Invitae

Personnel

Director: Swaroop Aradhya, PhD, FACMG, Lab Director
Director: Robert Daber, PhD, Lab Director
Director: Kingshuk Das, MD, Lab Director
Director: Seyed Ali Hosseini, PhD, MD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Email: seyedali.hosseini@invitae.com

Conditions and tests

4877 conditions/phenotypes with 349 tests
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11p partial monosomy syndrome16 tests
2-aminoadipic 2-oxoadipic aciduria5 tests
2-hydroxyglutaric aciduria4 tests
22q partial monosomy1 test
3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
3-hydroxy-3-methylglutaryl-CoA synthase deficiency6 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency9 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency9 tests
3-methylglutaconic aciduria type 18 tests
3-Methylglutaconic aciduria type 211 tests
3-Methylglutaconic aciduria type 39 tests
3-methylglutaconic aciduria type 57 tests
3-methylglutaconic aciduria type 88 tests
3-methylglutaconic aciduria type 99 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome9 tests
3-methylglutaconic aciduria, type VIIB10 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3 tests
3M syndrome 11 test
3M syndrome 21 test
3M syndrome 31 test
46,XX sex reversal 12 tests
46,XX sex reversal 41 test
46,xx sex reversal 51 test
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 13 tests
46,XY sex reversal 111 test
46,XY sex reversal 27 tests
46,XY sex reversal 31 test
46,XY sex reversal 51 test
46,XY sex reversal 61 test
46,XY sex reversal 71 test
46,XY sex reversal 92 tests
4p partial monosomy syndrome3 tests
5-Oxoprolinase deficiency3 tests
5p partial monosomy syndrome2 tests
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency9 tests
Aarskog syndrome1 test
ABCD syndrome3 tests
Abdominal obesity-metabolic syndrome 31 test
Abetalipoproteinaemia4 tests
Ablepharon macrostomia syndrome1 test
Abortive cerebellar ataxia6 tests
ABri amyloidosis1 test
Acetyl-CoA: carboxylase deficiency1 test
Acheiropodia1 test
Achondrogenesis type II5 tests
Achondrogenesis, type IA4 tests
Achondrogenesis, type IB7 tests
Achondroplasia3 tests
Achromatopsia 22 tests
Achromatopsia 36 tests
Achromatopsia 42 tests
Achromatopsia 72 tests
Acne inversa, familial, 12 tests
Acne inversa, familial, 22 tests
Acne inversa, familial, 31 test
Acquired hemoglobin H disease6 tests
Acquired polycythemia vera2 tests
Acrocallosal syndrome8 tests
Acrocapitofemoral dysplasia2 tests
Acrocephalosyndactyly type I4 tests
Acrodysostosis 1 with or without hormone resistance7 tests
Acrodysostosis 2 with or without hormone resistance4 tests
Acroerythrokeratoderma1 test
Acrofacial dysostosis Cincinnati type2 tests
Acrokeratosis verruciformis of Hopf1 test
Acromelic frontonasal dysostosis3 tests
Acromesomelic dysplasia 1, Maroteaux type3 tests
Acromesomelic dysplasia 2B3 tests
Acromesomelic dysplasia 2C, Hunter-Thompson type3 tests
Acromesomelic dysplasia 32 tests
Acromicric dysplasia8 tests
Acroosteolysis-keloid-like lesions-premature aging syndrome2 tests
ACTH-independent macronodular adrenal hyperplasia 19 tests
Actin accumulation myopathy3 tests
Action myoclonus-renal failure syndrome3 tests
Aculeiform cataract1 test
Acute febrile neutrophilic dermatosis9 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3 tests
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acute intermittent porphyria10 tests
Acute lymphoid leukemia10 tests
Acute myeloid leukemia29 tests
Acyl-CoA dehydrogenase 9 deficiency7 tests
Acyl-CoA oxidase deficiency7 tests
Adams-Oliver syndrome1 test
Adams-Oliver syndrome 13 tests
Adams-Oliver syndrome 24 tests
Adams-Oliver syndrome 33 tests
Adams-Oliver syndrome 45 tests
Adams-Oliver syndrome 57 tests
Adams-Oliver syndrome 63 tests
ADan amyloidosis1 test
Adenine phosphoribosyltransferase deficiency4 tests
Adenosine kinase deficiency7 tests
Adenylosuccinate lyase deficiency8 tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder5 tests
Adrenocortical carcinoma, hereditary12 tests
Adrenoleukodystrophy11 tests
Adult hypophosphatasia7 tests
Adult polyglucosan body disease7 tests
ADULT syndrome7 tests
Adult-onset foveomacular vitelliform dystrophy1 test
Adult-onset proximal spinal muscular atrophy, autosomal dominant3 tests
Agammaglobulinemia 2, autosomal recessive3 tests
Agammaglobulinemia 3, autosomal recessive3 tests
Agammaglobulinemia 4, autosomal recessive3 tests
Agammaglobulinemia 5, autosomal dominant3 tests
Agammaglobulinemia 6, autosomal recessive3 tests
Agammaglobulinemia 7, autosomal recessive11 tests
Agammaglobulinemia 8, autosomal dominant3 tests
Age related macular degeneration 11 test
Age related macular degeneration 111 test
Age related macular degeneration 136 tests
Age related macular degeneration 144 tests
Age related macular degeneration 153 tests
Age related macular degeneration 23 tests
Age related macular degeneration 46 tests
Age related macular degeneration 54 tests
Age related macular degeneration 62 tests
Age related macular degeneration 72 tests
Age related macular degeneration 94 tests
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome3 tests
Agenesis of the corpus callosum with peripheral neuropathy4 tests
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome4 tests
AICA-ribosiduria1 test
Aicardi-Goutieres syndrome 112 tests
Aicardi-Goutieres syndrome 211 tests
Aicardi-Goutieres syndrome 39 tests
Aicardi-Goutieres syndrome 49 tests
Aicardi-Goutieres syndrome 59 tests
Aicardi-Goutieres syndrome 68 tests
Aicardi-Goutieres syndrome 78 tests
Al-Gazali syndrome5 tests
Alacrima, achalasia, and intellectual disability syndrome2 tests
Alagille syndrome due to a JAG1 point mutation10 tests
Alagille syndrome due to a NOTCH2 point mutation12 tests
Alazami-Yuan syndrome1 test
Alcohol dependence3 tests
ALDH18A1-related de Barsy syndrome9 tests
Aldosterone-producing adenoma with seizures and neurological abnormalities6 tests
Alexander disease4 tests
ALG1-congenital disorder of glycosylation7 tests
ALG11-congenital disorder of glycosylation2 tests
ALG12-congenital disorder of glycosylation5 tests
ALG2-congenital disorder of glycosylation3 tests
ALG3-congenital disorder of glycosylation4 tests
ALG6-congenital disorder of glycosylation 1C9 tests
ALG8 congenital disorder of glycosylation7 tests
ALG9 congenital disorder of glycosylation6 tests
Alkaline ceramidase 3 deficiency1 test
Alkaptonuria2 tests
Allan-Herndon-Dudley syndrome3 tests
Alopecia universalis congenita1 test
Alopecia-intellectual disability syndrome 41 test
alpha Thalassemia5 tests
Alpha thalassemia-X-linked intellectual disability syndrome8 tests
Alpha-1-antitrypsin deficiency3 tests
Alpha-methylacyl-CoA racemase deficiency9 tests
Alpha-N-acetylgalactosaminidase deficiency type 16 tests
Alpha-N-acetylgalactosaminidase deficiency type 26 tests
Alpha-thalassemia/intellectual disability syndrome2 tests
Alstrom syndrome10 tests
Alternating hemiplegia of childhood 13 tests
Alternating hemiplegia of childhood 27 tests
Alveolar capillary dysplasia with pulmonary venous misalignment1 test
Alveolar rhabdomyosarcoma2 tests
Alzheimer disease5 tests
Alzheimer disease 32 tests
Alzheimer disease 42 tests
Alzheimer disease type 12 tests
Amelocerebrohypohidrotic syndrome1 test
Amelogenesis imperfecta type 1A2 tests
Amelogenesis imperfecta type 1G3 tests
Aminoacylase 1 deficiency1 test
Aminoglycoside-induced deafness3 tests
Amish lethal microcephaly7 tests
Amitriptyline response1 test
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis type 19 tests
Amyotrophic lateral sclerosis type 104 tests
Amyotrophic lateral sclerosis type 117 tests
Amyotrophic lateral sclerosis type 123 tests
Amyotrophic lateral sclerosis type 155 tests
Amyotrophic lateral sclerosis type 162 tests
Amyotrophic lateral sclerosis type 182 tests
Amyotrophic lateral sclerosis type 192 tests
Amyotrophic lateral sclerosis type 2, juvenile4 tests
Amyotrophic lateral sclerosis type 212 tests
Amyotrophic lateral sclerosis type 232 tests
Amyotrophic lateral sclerosis type 43 tests
Amyotrophic lateral sclerosis type 59 tests
Amyotrophic lateral sclerosis type 64 tests
Amyotrophic lateral sclerosis type 84 tests
Amyotrophic lateral sclerosis type 92 tests
Amyotrophic lateral sclerosis, susceptibility to, 242 tests
Amyotrophic lateral sclerosis, susceptibility to, 257 tests
Analbuminemia1 test
Anauxetic dysplasia 19 tests
Anauxetic dysplasia 22 tests
Andersen Tawil syndrome9 tests
Androgen resistance syndrome3 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency14 tests
Aneurysm-osteoarthritis syndrome6 tests
Angelman syndrome5 tests
Angelman syndrome-like1 test
Angioedema, hereditary, 41 test
Aniridia 116 tests
Aniridia 21 test
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome7 tests
Annular epidermolytic ichthyosis2 tests
Anomaly of sex chromosome1 test
Anophthalmia-microphthalmia syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome8 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 37 tests
Anterior segment dysgenesis 44 tests
Anterior segment dysgenesis 63 tests
Anterior segment dysgenesis 73 tests
Anterior segment dysgenesis 81 test
Antley-Bixler syndrome1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis4 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis6 tests
Aortic aneurysm, familial thoracic 102 tests
Aortic aneurysm, familial thoracic 11, susceptibility to3 tests
Aortic aneurysm, familial thoracic 45 tests
Aortic aneurysm, familial thoracic 66 tests
Aortic aneurysm, familial thoracic 74 tests
Aortic aneurysm, familial thoracic 84 tests
Aortic aneurysm, familial thoracic 92 tests
Aortic valve disease 17 tests
Aortic valve disease 22 tests
Aplastic anemia20 tests
Apparent mineralocorticoid excess4 tests
Arginase deficiency13 tests
Arginine:glycine amidinotransferase deficiency15 tests
Argininosuccinate lyase deficiency12 tests
Ariboflavinosis6 tests
Aripiprazole response1 test
Aromatase deficiency3 tests
Aromatase excess syndrome3 tests
Arrhinia with choanal atresia and microphthalmia syndrome4 tests
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma10 tests
Arrhythmogenic right ventricular dysplasia 15 tests
Arrhythmogenic right ventricular dysplasia 108 tests
Arrhythmogenic right ventricular dysplasia 118 tests
Arrhythmogenic right ventricular dysplasia 129 tests
Arrhythmogenic right ventricular dysplasia 26 tests
Arrhythmogenic right ventricular dysplasia 58 tests
Arrhythmogenic right ventricular dysplasia 810 tests
Arrhythmogenic right ventricular dysplasia 98 tests
Arrhythmogenic right ventricular dysplasia, familial, 143 tests
Arterial calcification, generalized, of infancy, 14 tests
Arterial calcification, generalized, of infancy, 23 tests
Arterial tortuosity syndrome2 tests
Arteriohepatic dysplasia2 tests
Arthrogryposis multiplex congenita 3, myogenic type1 test
Arthrogryposis multiplex congenita 53 tests
Arthrogryposis multiplex congenita 65 tests
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development4 tests
Arthrogryposis, distal, IIa 112 tests
Arthrogryposis, distal, type 1A3 tests
Arthrogryposis, distal, type 2B33 tests
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis, renal dysfunction, and cholestasis 16 tests
Arthrogryposis, renal dysfunction, and cholestasis 25 tests
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Arts syndrome10 tests
Aspartylglucosaminuria10 tests
Asphyxiating thoracic dystrophy 24 tests
Asphyxiating thoracic dystrophy 34 tests
Asphyxiating thoracic dystrophy 49 tests
Asphyxiating thoracic dystrophy 58 tests
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2 tests
Ataxia - oculomotor apraxia type 43 tests
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia4 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome3 tests
Ataxia-pancytopenia syndrome6 tests
Ataxia-telangiectasia syndrome18 tests
Ataxia-telangiectasia-like disorder 14 tests
Ateleiotic dwarfism1 test
Atelosteogenesis type I2 tests
Atelosteogenesis type II8 tests
Atelosteogenesis type III2 tests
Atomoxetine response1 test
Atorvastatin response1 test
Atransferrinemia4 tests
Atrial conduction disease3 tests
Atrial fibrillation, familial, 108 tests
Atrial fibrillation, familial, 112 tests
Atrial fibrillation, familial, 125 tests
Atrial fibrillation, familial, 132 tests
Atrial fibrillation, familial, 182 tests
Atrial fibrillation, familial, 36 tests
Atrial fibrillation, familial, 42 tests
Atrial fibrillation, familial, 98 tests
Atrial septal defect1 test
Atrial septal defect 25 tests
Atrial septal defect 31 test
Atrial septal defect 44 tests
Atrial septal defect 59 tests
Atrial septal defect 76 tests
Atrial septal defect 92 tests
Atrial standstill 12 tests
Atrichia with papular lesions1 test
Atrioventricular septal defect 45 tests
Atrioventricular septal defect 52 tests
Atrioventricular septal defect and common atrioventricular junction11 tests
Atrioventricular septal defect, susceptibility to, 21 test
Atrophia bulborum hereditaria3 tests
Attenuated familial adenomatous polyposis7 tests
Atypical glycine encephalopathy6 tests
Atypical hemolytic-uremic syndrome with B factor anomaly4 tests
Atypical hemolytic-uremic syndrome with C3 anomaly4 tests
Atypical hemolytic-uremic syndrome with I factor anomaly6 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly4 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly6 tests
Au-Kline syndrome1 test
Auditory neuropathy, autosomal dominant 33 tests
Auriculocondylar syndrome 12 tests
Auriculocondylar syndrome 21 test
Auriculocondylar syndrome 31 test
Autism spectrum disorder1 test
Autism spectrum disorder - epilepsy - arthrogryposis syndrome3 tests
Autism spectrum disorder due to AUTS2 deficiency2 tests
Autism, susceptibility to, 154 tests
Autism, susceptibility to, X-linked 36 tests
Autoimmune disease, multisystem, infantile-onset, 26 tests
Autoimmune disease, susceptibility to, 63 tests
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome6 tests
Autoimmune interstitial lung disease-arthritis syndrome7 tests
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency8 tests
Autoimmune lymphoproliferative syndrome type 15 tests
Autoimmune lymphoproliferative syndrome type 2A4 tests
Autoimmune lymphoproliferative syndrome type 2B5 tests
Autoimmune lymphoproliferative syndrome type 47 tests
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD6 tests
Autoimmune thyroid disease, susceptibility to, 31 test
Autoinflammation with arthritis and dyskeratosis4 tests
Autoinflammation with episodic fever and lymphadenopathy5 tests
Autoinflammation, immune dysregulation, and eosinophilia5 tests
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation6 tests
Autoinflammatory syndrome, familial, Behcet-like3 tests
Autosomal chromosomal disorder1 test
Autosomal dominant Alport syndrome6 tests
Autosomal dominant aplasia and myelodysplasia5 tests
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant centronuclear myopathy7 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy3 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures4 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures6 tests
Autosomal dominant complex spastic paraplegia type 9B1 test
Autosomal dominant distal renal tubular acidosis6 tests
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome14 tests
Autosomal dominant hypocalcemia 18 tests
Autosomal dominant hypocalcemia 23 tests
Autosomal dominant hypophosphatemic rickets4 tests
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome5 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant Kenny-Caffey syndrome4 tests
Autosomal dominant keratitis6 tests
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome6 tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)5 tests
Autosomal dominant limb-girdle muscular dystrophy type 1F4 tests
Autosomal dominant limb-girdle muscular dystrophy type 1G3 tests
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency2 tests
Autosomal dominant mitochondrial myopathy with exercise intolerance7 tests
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 55 tests
Autosomal dominant nonsyndromic hearing loss 16 tests
Autosomal dominant nonsyndromic hearing loss 104 tests
Autosomal dominant nonsyndromic hearing loss 114 tests
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 136 tests
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 176 tests
Autosomal dominant nonsyndromic hearing loss 204 tests
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 234 tests
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 283 tests
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B2 tests
Autosomal dominant nonsyndromic hearing loss 362 tests
Autosomal dominant nonsyndromic hearing loss 3A6 tests
Autosomal dominant nonsyndromic hearing loss 3B4 tests
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 66 tests
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 654 tests
Autosomal dominant nonsyndromic hearing loss 661 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 692 tests
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant omodysplasia2 tests
Autosomal dominant Opitz G/BBB syndrome1 test
Autosomal dominant optic atrophy classic form6 tests
Autosomal dominant osteopetrosis 16 tests
Autosomal dominant osteopetrosis 27 tests
Autosomal dominant palmoplantar keratoderma and congenital alopecia10 tests
Autosomal dominant Parkinson disease 12 tests
Autosomal dominant Parkinson disease 42 tests
Autosomal dominant Parkinson disease 81 test
Autosomal dominant popliteal pterygium syndrome1 test
Autosomal dominant pseudohypoaldosteronism type 12 tests
Autosomal dominant Robinow syndrome 13 tests
Autosomal dominant Robinow syndrome 22 tests
Autosomal dominant Robinow syndrome 32 tests
Autosomal dominant spastic paraplegia type 91 test
Autosomal dominant striatal neurodegeneration type 11 test
Autosomal dominant vitreoretinochoroidopathy2 tests
Autosomal dominant wooly hair1 test
Autosomal recessive Alport syndrome6 tests
Autosomal recessive amelia1 test
Autosomal recessive ataxia due to ubiquinone deficiency7 tests
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive axonal neuropathy with neuromyotonia3 tests
Autosomal recessive bestrophinopathy2 tests
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome3 tests
Autosomal recessive complex spastic paraplegia type 9B8 tests
Autosomal recessive congenital ichthyosis 12 tests
Autosomal recessive congenital ichthyosis 101 test
Autosomal recessive congenital ichthyosis 111 test
Autosomal recessive congenital ichthyosis 21 test
Autosomal recessive congenital ichthyosis 31 test
Autosomal recessive congenital ichthyosis 4A2 tests
Autosomal recessive congenital ichthyosis 4B2 tests
Autosomal recessive congenital ichthyosis 51 test
Autosomal recessive congenital ichthyosis 61 test
Autosomal recessive congenital ichthyosis 81 test
Autosomal recessive congenital ichthyosis 91 test
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive cutis laxa type 2C3 tests
Autosomal recessive cutis laxa type 2D2 tests
Autosomal recessive distal renal tubular acidosis2 tests
Autosomal recessive distal spinal muscular atrophy 14 tests
Autosomal recessive distal spinal muscular atrophy 22 tests
Autosomal recessive DOPA responsive dystonia9 tests
Autosomal recessive early-onset Parkinson disease 231 test
Autosomal recessive early-onset Parkinson disease 62 tests
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive hypophosphatemic bone disease5 tests
Autosomal recessive inherited pseudoxanthoma elasticum7 tests
Autosomal recessive juvenile Parkinson disease 22 tests
Autosomal recessive Kenny-Caffey syndrome4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F10 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G11 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I15 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J13 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K10 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M15 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N10 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O11 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2R15 tests
Autosomal recessive limb-girdle muscular dystrophy type 2T4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Y3 tests
Autosomal recessive limb-girdle muscular dystrophy type R187 tests
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency2 tests
Autosomal recessive multiple pterygium syndrome1 test
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 124 tests
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 18A4 tests
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A7 tests
Autosomal recessive nonsyndromic hearing loss 1B4 tests
Autosomal recessive nonsyndromic hearing loss 24 tests
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 222 tests
Autosomal recessive nonsyndromic hearing loss 236 tests
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 32 tests
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 313 tests
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 412 tests
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 483 tests
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 536 tests
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 667 tests
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 72 tests
Autosomal recessive nonsyndromic hearing loss 704 tests
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 762 tests
Autosomal recessive nonsyndromic hearing loss 773 tests
Autosomal recessive nonsyndromic hearing loss 82 tests
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 864 tests
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 92 tests
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 973 tests
Autosomal recessive nonsyndromic hearing loss 982 tests
Autosomal recessive omodysplasia1 test
Autosomal recessive optic atrophy, OPA7 type3 tests
Autosomal recessive osteopetrosis 15 tests
Autosomal recessive osteopetrosis 24 tests
Autosomal recessive osteopetrosis 47 tests
Autosomal recessive osteopetrosis 55 tests
Autosomal recessive osteopetrosis 75 tests
Autosomal recessive osteopetrosis 84 tests
Autosomal recessive Parkinson disease 1410 tests
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive proximal renal tubular acidosis4 tests
Autosomal recessive pseudohypoaldosteronism type 12 tests
Autosomal recessive Robinow syndrome2 tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency4 tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency11 tests
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency6 tests
Autosomal recessive spastic paraplegia type 762 tests
Autosomal recessive spastic paraplegia type 7810 tests
Autosomal recessive spinocerebellar ataxia 103 tests
Autosomal recessive spinocerebellar ataxia 124 tests
Autosomal recessive spinocerebellar ataxia 131 test
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 181 test
Autosomal recessive spinocerebellar ataxia 21 test
Autosomal recessive spinocerebellar ataxia 201 test
Autosomal recessive spinocerebellar ataxia 74 tests
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type1 test
Autosomal systemic lupus erythematosus type 164 tests
Avascular necrosis of femoral head, primary, 15 tests
Avascular necrosis of femoral head, primary, 25 tests
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 14 tests
Axenfeld-Rieger syndrome type 38 tests
Axial spondylometaphyseal dysplasia2 tests
Ayme-Gripp syndrome3 tests
B4GALT1-congenital disorder of glycosylation3 tests
Bailey-Bloch congenital myopathy5 tests
Baller-Gerold syndrome5 tests
Band heterotopia of brain1 test
Bannayan-Riley-Ruvalcaba syndrome12 tests
BAP1-related tumor predisposition syndrome8 tests
Baraitser-Winter syndrome 112 tests
Baraitser-winter syndrome 25 tests
Barber-Say syndrome1 test
Bardet-Biedl syndrome3 tests
Bardet-Biedl syndrome 111 tests
Bardet-Biedl syndrome 109 tests
Bardet-Biedl syndrome 1113 tests
Bardet-Biedl syndrome 129 tests
Bardet-Biedl syndrome 1311 tests
Bardet-Biedl syndrome 1416 tests
Bardet-Biedl syndrome 158 tests
Bardet-Biedl syndrome 1610 tests
Bardet-Biedl syndrome 175 tests
Bardet-Biedl syndrome 185 tests
Bardet-Biedl syndrome 195 tests
Bardet-Biedl syndrome 211 tests
Bardet-Biedl syndrome 201 test
Bardet-biedl syndrome 213 tests
Bardet-Biedl syndrome 224 tests
Bardet-Biedl syndrome 39 tests
Bardet-Biedl syndrome 49 tests
Bardet-Biedl syndrome 59 tests
Bardet-Biedl syndrome 66 tests
Bardet-Biedl syndrome 79 tests
Bardet-Biedl syndrome 88 tests
Bardet-Biedl syndrome 99 tests
Barrett esophagus2 tests
Bartsocas-Papas syndrome 21 test
Bartter disease type 17 tests
Bartter disease type 25 tests
Bartter disease type 36 tests
Bartter disease type 4A5 tests
Bartter disease type 4B6 tests
Bartter disease type 53 tests
Basal cell carcinoma, susceptibility to, 112 tests
Basal cell carcinoma, susceptibility to, 711 tests
Basal ganglia calcification, idiopathic, 42 tests
Basal ganglia calcification, idiopathic, 62 tests
Basal laminar drusen6 tests
Beaded hair1 test
Beare-Stevenson cutis gyrata syndrome4 tests
Becker muscular dystrophy14 tests
Beckwith-Wiedemann syndrome18 tests
Benign concentric annular macular dystrophy1 test
Benign familial hematuria6 tests
Benign hereditary chorea3 tests
Benign recurrent intrahepatic cholestasis type 12 tests
Benign recurrent intrahepatic cholestasis type 22 tests
Bent bone dysplasia syndrome 13 tests
Bent bone dysplasia syndrome 21 test
BENTA disease5 tests
Bernard Soulier syndrome2 tests
Bernard-Soulier syndrome, type A2, autosomal dominant2 tests
beta Thalassemia1 test
Beta-D-mannosidosis6 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency6 tests
Beta-thalassemia HBB/LCRB3 tests
Beta-thalassemia-X-linked thrombocytopenia syndrome9 tests
Bethlem myopathy 1A7 tests
Bethlem myopathy 27 tests
Bietti crystalline corneoretinal dystrophy3 tests
Bifunctional peroxisomal enzyme deficiency7 tests
Bilateral frontoparietal polymicrogyria3 tests
Bilateral parasagittal parieto-occipital polymicrogyria7 tests
Bile acid conjugation defect 11 test
Bile acid malabsorption, primary, 13 tests
Bilirubin, serum level of, quantitative trait locus 12 tests
Biotin-responsive basal ganglia disease10 tests
Biotinidase deficiency14 tests
Birt-Hogg-Dube syndrome5 tests
Blau syndrome5 tests
Bleeding disorder, platelet-type, 13, susceptibility to2 tests
Bleeding disorder, platelet-type, 212 tests
Bleeding disorder, platelet-type, 241 test
Blepharocheilodontic syndrome 14 tests
Blepharophimosis - intellectual disability syndrome, MKB type7 tests
Blepharophimosis - intellectual disability syndrome, SBBYS type6 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
Blepharophimosis-impaired intellectual development syndrome1 test
BLOOD GROUP, EMM SYSTEM1 test
Blood group, Gerbich system2 tests
BLOOD GROUP--DIEGO SYSTEM6 tests
BLOOD GROUP--FROESE6 tests
BLOOD GROUP--LUTHERAN INHIBITOR3 tests
BLOOD GROUP--SWANN SYSTEM6 tests
BLOOD GROUP--WALDNER TYPE6 tests
BLOOD GROUP--WRIGHT ANTIGEN6 tests
Bloom syndrome13 tests
Blue color blindness1 test
BNAR syndrome4 tests
Body mass index quantitative trait locus 123 tests
Body mass index quantitative trait locus 141 test
Body mass index quantitative trait locus 181 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201 test
Body mass index quantitative trait locus 41 test
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
Bohring-Opitz syndrome3 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone marrow failure syndrome 35 tests
Bone marrow failure syndrome 46 tests
Bone marrow failure syndrome 511 tests
Bone mineral density quantitative trait locus 16 tests
Bone mineral density quantitative trait locus 182 tests
Bone osteosarcoma14 tests
Boomerang dysplasia2 tests
Borjeson-Forssman-Lehmann syndrome5 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome3 tests
Bothnia retinal dystrophy4 tests
Brachydactyly type A11 test
Brachydactyly type A1A1 test
Brachydactyly type A1C3 tests
Brachydactyly type A1D2 tests
Brachydactyly type B12 tests
Brachydactyly type B24 tests
Brachydactyly type C3 tests
Brachydactyly type D1 test
Brachydactyly type E11 test
Brachydactyly type E22 tests
Brachydactyly-arterial hypertension syndrome1 test
Brachydactyly-elbow wrist dysplasia syndrome1 test
Brachydactyly-syndactyly syndrome1 test
Brachyolmia-amelogenesis imperfecta syndrome4 tests
Brachyrachia (short spine dysplasia)5 tests
Bradyopsia2 tests
Brain abnormalities, neurodegeneration, and dysosteosclerosis3 tests
Brain small vessel disease 1 with or without ocular anomalies14 tests
Brain small vessel disease 31 test
Brain-lung-thyroid syndrome3 tests
Branched-chain keto acid dehydrogenase kinase deficiency2 tests
Branchiooculofacial syndrome3 tests
Branchiootic syndrome 14 tests
Branchiootic syndrome 34 tests
Branchiootorenal syndrome 14 tests
Branchiootorenal syndrome 21 test
Breast and/or ovarian cancer2 tests
Breast cancer, early-onset8 tests
Breast cancer, familial male3 tests
Breast cancer, susceptibility to10 tests
Breast lobular carcinoma8 tests
Breast neoplasm11 tests
Breast-ovarian cancer, familial, susceptibility to, 118 tests
Breast-ovarian cancer, familial, susceptibility to, 221 tests
Breast-ovarian cancer, familial, susceptibility to, 39 tests
Breast-ovarian cancer, familial, susceptibility to, 46 tests
Brittle cornea syndrome 14 tests
Brittle cornea syndrome 22 tests
Brody myopathy3 tests
Bronchiectasis with or without elevated sweat chloride 111 tests
Bronchiectasis with or without elevated sweat chloride 22 tests
Bronchiectasis with or without elevated sweat chloride 32 tests
Brown-Vialetto-van Laere syndrome 19 tests
Brown-Vialetto-van Laere syndrome 29 tests
Bruck syndrome 13 tests
Bruck syndrome 22 tests
Brugada syndrome1 test
Brugada syndrome 19 tests
Brugada syndrome 23 tests
Brugada syndrome 39 tests
Brugada syndrome 43 tests
Brugada syndrome 52 tests
Brugada syndrome 88 tests
Brunner syndrome4 tests
Budd-Chiari syndrome6 tests
Bullous ichthyosiform erythroderma2 tests
C1 inhibitor deficiency4 tests
C1Q deficiency3 tests
Café-au-lait macules with pulmonary stenosis14 tests
Calvarial doughnut lesions-bone fragility syndrome2 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome3 tests
Camptomelic dysplasia4 tests
Camptosynpolydactyly, complex1 test
Candidiasis, familial, 62 tests
Candidiasis, familial, 82 tests
Candidiasis, familial, 92 tests
Capillary infantile hemangioma1 test
Capillary malformation-arteriovenous malformation 15 tests
Capillary malformation-arteriovenous malformation 21 test
CARASIL syndrome2 tests
Carcinoid tumor of intestine5 tests
Carcinoma of cervix1 test
Carcinoma of colon12 tests
Carcinoma of pancreas26 tests
Cardiac anomalies - developmental delay - facial dysmorphism syndrome3 tests
Cardiac arrhythmia4 tests
Cardiac arrhythmia, ankyrin-B-related1 test
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2 tests
Cardiac valvular defect, developmental1 test
Cardiac valvular dysplasia, X-linked9 tests
Cardio-facio-cutaneous syndrome1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 19 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 25 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 31 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
Cardiofaciocutaneous syndrome 17 tests
Cardiofaciocutaneous syndrome 29 tests
Cardiofaciocutaneous syndrome 39 tests
Cardiofaciocutaneous syndrome 48 tests
Cardiomyopathy, dilated, 2c3 tests
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis10 tests
Cardiomyopathy, familial hypertrophic 274 tests
Cardiomyopathy, familial restrictive, 19 tests
Cardiomyopathy, familial restrictive, 39 tests
Cardiomyopathy-hypotonia-lactic acidosis syndrome3 tests
Cardiospondylocarpofacial syndrome1 test
Carney complex5 tests
Carney complex, type 112 tests
Carney-Stratakis syndrome14 tests
Carnitine acylcarnitine translocase deficiency8 tests
Carnitine palmitoyl transferase 1A deficiency9 tests
Carnitine palmitoyl transferase II deficiency, myopathic form17 tests
Carnitine palmitoyl transferase II deficiency, neonatal form17 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form17 tests
Carnitine palmitoyltransferase II deficiency1 test
Carotid intimal medial thickness 12 tests
Carpal tunnel syndrome 14 tests
Carpal tunnel syndrome 21 test
Carvedilol response1 test
Cataract1 test
Cataract 1 multiple types2 tests
Cataract 10 multiple types1 test
Cataract 11 multiple types2 tests
Cataract 12 multiple types1 test
Cataract 13 with adult I phenotype1 test
Cataract 15 multiple types1 test
Cataract 16 multiple types8 tests
Cataract 17 multiple types1 test
Cataract 181 test
Cataract 20 multiple types1 test
Cataract 21 multiple types3 tests
Cataract 22 multiple types1 test
Cataract 231 test
Cataract 331 test
Cataract 34 multiple types3 tests
Cataract 385 tests
Cataract 402 tests
Cataract 416 tests
Cataract 441 test
Cataract 5 multiple types1 test
Cataract 9 multiple types2 tests
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome3 tests
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY3 tests
Catecholaminergic polymorphic ventricular tachycardia1 test
Catecholaminergic polymorphic ventricular tachycardia 110 tests
Catecholaminergic polymorphic ventricular tachycardia 27 tests
Catecholaminergic polymorphic ventricular tachycardia 45 tests
Catecholaminergic polymorphic ventricular tachycardia 56 tests
Catel-Manzke syndrome3 tests
CBL-related disorder10 tests
CCDC115-CDG4 tests
CDC73-Related Disorders3 tests
CEDNIK syndrome4 tests
Celecoxib response1 test
Celiac disease, susceptibility to, 38 tests
Cenani-Lenz syndactyly syndrome5 tests
Centra precocious puberty 11 test
Central core myopathy10 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42 tests
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome7 tests
Cerebellar ataxia-hypogonadism syndrome1 test
Cerebellar atrophy with seizures and variable developmental delay1 test
Cerebellar atrophy, developmental delay, and seizures5 tests
Cerebellar atrophy, visual impairment, and psychomotor retardation;3 tests
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1 test
Cerebral amyloid angiopathy, APP-related3 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 22 tests
Cerebral arteriovenous malformation7 tests
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 11 test
Cerebral cavernous malformation 22 tests
Cerebral cavernous malformation 32 tests
Cerebral creatine deficiency syndrome1 test
Cerebral folate transport deficiency7 tests
Cerebral palsy, spastic quadriplegic, 23 tests
Cerebral palsy, spastic quadriplegic, 31 test
Cerebro-costo-mandibular syndrome2 tests
Cerebrooculofacioskeletal syndrome 14 tests
Cerebrooculofacioskeletal syndrome 28 tests
Cerebrooculofacioskeletal syndrome 31 test
Cerebrooculofacioskeletal syndrome 41 test
Cerebroretinal microangiopathy with calcifications and cysts 18 tests
Cerebroretinal microangiopathy with calcifications and cysts 27 tests
Cernunnos-XLF deficiency3 tests
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A10 tests
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)10 tests
Cervical cancer2 tests
CFHR5 deficiency2 tests
Channelopathy-associated congenital insensitivity to pain, autosomal recessive3 tests
Char syndrome2 tests
Charcot-Marie-Tooth disease axonal type 2C5 tests
Charcot-Marie-Tooth disease axonal type 2CC2 tests
Charcot-Marie-Tooth disease axonal type 2F3 tests
Charcot-Marie-Tooth disease axonal type 2K4 tests
Charcot-Marie-Tooth disease axonal type 2L3 tests
Charcot-Marie-Tooth disease axonal type 2O6 tests
Charcot-Marie-Tooth disease axonal type 2P2 tests
Charcot-Marie-Tooth disease axonal type 2Q5 tests
Charcot-Marie-Tooth disease axonal type 2S4 tests
Charcot-Marie-Tooth disease axonal type 2T2 tests
Charcot-Marie-Tooth disease axonal type 2V13 tests
Charcot-Marie-Tooth disease axonal type 2X8 tests
Charcot-Marie-Tooth disease axonal type 2Z4 tests
Charcot-Marie-Tooth disease dominant intermediate B7 tests
Charcot-Marie-Tooth disease dominant intermediate D4 tests
Charcot-Marie-Tooth disease dominant intermediate E6 tests
Charcot-Marie-Tooth disease dominant intermediate F2 tests
Charcot-Marie-Tooth disease recessive intermediate A4 tests
Charcot-Marie-Tooth disease recessive intermediate C4 tests
Charcot-Marie-Tooth disease recessive intermediate D3 tests
Charcot-Marie-Tooth disease type 1B4 tests
Charcot-Marie-Tooth disease type 1C2 tests
Charcot-Marie-Tooth disease type 1D2 tests
Charcot-Marie-Tooth disease type 1E4 tests
Charcot-Marie-Tooth disease type 1F2 tests
Charcot-Marie-Tooth disease type 2A24 tests
Charcot-Marie-Tooth disease type 2B2 tests
Charcot-Marie-Tooth disease type 2B120 tests
Charcot-Marie-Tooth disease type 2B25 tests
Charcot-Marie-Tooth disease type 2E2 tests
Charcot-Marie-Tooth disease type 2I4 tests
Charcot-Marie-Tooth disease type 2J4 tests
Charcot-Marie-Tooth disease type 2R2 tests
Charcot-Marie-Tooth disease type 2Y5 tests
Charcot-Marie-Tooth disease type 4A4 tests
Charcot-Marie-Tooth disease type 4B12 tests
Charcot-Marie-Tooth disease type 4B23 tests
Charcot-Marie-Tooth disease type 4B32 tests
Charcot-Marie-Tooth disease type 4C4 tests
Charcot-Marie-Tooth disease type 4D5 tests
Charcot-Marie-Tooth disease type 4E2 tests
Charcot-Marie-Tooth disease type 4F2 tests
Charcot-Marie-Tooth disease type 4G5 tests
Charcot-Marie-Tooth disease type 4H2 tests
Charcot-Marie-Tooth disease type 4J7 tests
Charcot-Marie-Tooth disease type 4K8 tests
Charcot-Marie-Tooth disease X-linked dominant 15 tests
Charcot-Marie-Tooth disease X-linked dominant 64 tests
Charcot-Marie-Tooth disease X-linked recessive 43 tests
Charcot-Marie-Tooth disease X-linked recessive 510 tests
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;4 tests
Charcot-Marie-Tooth disease, axonal, IIa 2II1 test
Charcot-marie-tooth disease, axonal, type 2DD3 tests
Charcot-Marie-Tooth disease, axonal, type 2EE8 tests
Charcot-Marie-Tooth disease, axonal, Type 2HH1 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive4 tests
Charcot-Marie-Tooth disease, demyelinating, type 1G2 tests
Charcot-Marie-Tooth disease, dominant intermediate G2 tests
Charcot-Marie-Tooth disease, type IA4 tests
CHARGE association13 tests
Charlevoix-Saguenay spastic ataxia4 tests
Chilblain lupus 112 tests
Chilblain lupus 29 tests
Child syndrome4 tests
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency6 tests
Childhood hypophosphatasia7 tests
Childhood onset GLUT1 deficiency syndrome 211 tests
CHIME syndrome3 tests
Chitotriosidase deficiency2 tests
Cholestanol storage disease19 tests
Cholestasis, intrahepatic, of pregnancy, 12 tests
Cholestasis, intrahepatic, of pregnancy, 33 tests
Cholestasis, progressive familial intrahepatic, 121 test
Cholestasis, progressive familial intrahepatic, 42 tests
Cholestasis, progressive familial intrahepatic, 52 tests
Chondrocalcinosis 21 test
Chondrodysplasia Blomstrand type3 tests
Chondrodysplasia punctata 2 X-linked dominant3 tests
Chondrosarcoma5 tests
Chorea, childhood-onset, with psychomotor retardation1 test
Chorea-acanthocytosis5 tests
Choroid plexus papilloma11 tests
Choroidal dystrophy, central areolar 22 tests
Choroidal dystrophy, central areolar, 13 tests
Choroideremia3 tests
Christianson syndrome4 tests
Chromosome 11, deletion 11p1 test
Chromosome 11, partial trisomy 11q1 test
Chromosome 11q trisomy1 test
Chromosome 13q trisomy1 test
Chromosome 14 deletion1 test
Chromosome 14 trisomy1 test
Chromosome 15q, tetrasomy1 test
Chromosome 15q11.2 deletion syndrome1 test
Chromosome 16 trisomy1 test
Chromosome 17p deletion1 test
Chromosome 1p32-p31 deletion syndrome2 tests
Chromosome 1p36 deletion syndrome1 test
Chromosome 1q deletion1 test
Chromosome 1q21.1 deletion syndrome3 tests
Chromosome 2p16.3 deletion syndrome3 tests
Chromosome 2q32-q33 deletion syndrome4 tests
Chromosome 3, monosomy 3p14 p111 test
Chromosome 4 short arm deletion1 test
Chromosome 4, Trisomy 4p1 test
Chromosome 5, trisomy 5p1 test
Chromosome 7, monosomy1 test
Chromosome 8, monosomy 8p1 test
Chromosome 9, trisomy 9p1 test
Chromosome 9, trisomy 9q1 test
Chromosome 9p deletion syndrome1 test
Chromosome Xq28 duplication syndrome2 tests
Chronic infantile neurological, cutaneous and articular syndrome6 tests
Chronic myelogenous leukemia, BCR-ABL1 positive1 test
Chudley-McCullough syndrome2 tests
Chuvash polycythemia8 tests
Chylomicron retention disease6 tests
Chédiak-Higashi syndrome11 tests
Ciliary dyskinesia, primary, 373 tests
Ciliary dyskinesia, primary, 393 tests
Ciliary dyskinesia, primary, 403 tests
Ciliary dyskinesia, primary, 423 tests
Citalopram response1 test
Citrin deficiency2 tests
Citrullinemia1 test
Citrullinemia type I12 tests
Citrullinemia type II2 tests
Citrullinemia, type II, adult-onset10 tests
CK syndrome4 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency3 tests
Classic dopamine transporter deficiency syndrome7 tests
Classic Hodgkin lymphoma1 test
Classic homocystinuria15 tests
Cleft lip/palate-ectodermal dysplasia syndrome2 tests
Cleidocranial dysostosis1 test
Clopidogrel response1 test
Clozapine response1 test
Clubfoot1 test
COACH syndrome1 test
COACH syndrome 19 tests
COACH syndrome 28 tests
COACH syndrome 35 tests
Cobalamin C disease16 tests
Cobblestone lissencephaly without muscular or ocular involvement2 tests
Cockayne syndrome type 14 tests
Cockayne syndrome type 24 tests
Cocoon syndrome2 tests
CODAS syndrome4 tests
Codeine response1 test
Coenzyme Q10 deficiency, primary, 110 tests
Coenzyme Q10 deficiency, primary, 39 tests
Coffin-Lowry syndrome6 tests
Coffin-Siris syndrome 14 tests
Coffin-Siris syndrome 55 tests
Coffin-Siris syndrome 74 tests
COG1 congenital disorder of glycosylation3 tests
COG4-congenital disorder of glycosylation2 tests
COG5-congenital disorder of glycosylation3 tests
COG6-ongenital disorder of glycosylation3 tests
COG7 congenital disorder of glycosylation6 tests
COG8-congenital disorder of glycosylation2 tests
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome5 tests
Cognitive impairment with or without cerebellar ataxia4 tests
Cohen syndrome11 tests
Cohen-Gibson syndrome1 test
Cold-induced sweating syndrome 11 test
Cole-Carpenter syndrome 12 tests
Cole-Carpenter syndrome 24 tests
Coloboma of optic nerve6 tests
Coloboma, ocular, autosomal dominant5 tests
Coloboma, ocular, autosomal recessive1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness5 tests
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome3 tests
Colorectal cancer28 tests
Colorectal cancer, hereditary nonpolyposis, type 225 tests
Colorectal cancer, hereditary nonpolyposis, type 611 tests
Colorectal cancer, susceptibility to, 1010 tests
Colorectal cancer, susceptibility to, 1210 tests
Colton Blood group system1 test
Combined deficiency of sialidase AND beta galactosidase6 tests
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia6 tests
Combined immunodeficiency due to CD3gamma deficiency6 tests
Combined immunodeficiency due to DOCK8 deficiency8 tests
Combined immunodeficiency due to GINS1 deficiency3 tests
Combined immunodeficiency due to LRBA deficiency7 tests
Combined immunodeficiency due to MALT1 deficiency3 tests
Combined immunodeficiency due to moesin deficiency4 tests
Combined immunodeficiency due to ORAI1 deficiency6 tests
Combined immunodeficiency due to OX40 deficiency3 tests
Combined immunodeficiency due to partial RAG1 deficiency8 tests
Combined immunodeficiency due to STIM1 deficiency9 tests
Combined immunodeficiency due to STK4 deficiency6 tests
Combined immunodeficiency due to ZAP70 deficiency6 tests
Combined immunodeficiency with skin granulomas8 tests
Combined immunodeficiency, X-linked9 tests
Combined malonic and methylmalonic acidemia8 tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 13 tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 23 tests
Combined oxidative phosphorylation defect type 115 tests
Combined oxidative phosphorylation defect type 134 tests
Combined oxidative phosphorylation defect type 145 tests
Combined oxidative phosphorylation defect type 152 tests
Combined oxidative phosphorylation defect type 174 tests
Combined oxidative phosphorylation defect type 22 tests
Combined oxidative phosphorylation defect type 202 tests
Combined oxidative phosphorylation defect type 212 tests
Combined oxidative phosphorylation defect type 232 tests
Combined oxidative phosphorylation defect type 243 tests
Combined oxidative phosphorylation defect type 253 tests
Combined oxidative phosphorylation defect type 264 tests
Combined oxidative phosphorylation defect type 273 tests
Combined oxidative phosphorylation defect type 301 test
Combined oxidative phosphorylation defect type 43 tests
Combined oxidative phosphorylation defect type 72 tests
Combined oxidative phosphorylation defect type 82 tests
Combined oxidative phosphorylation defect type 91 test
Combined oxidative phosphorylation deficiency 192 tests
Combined oxidative phosphorylation deficiency 281 test
Combined oxidative phosphorylation deficiency 291 test
Combined oxidative phosphorylation deficiency 322 tests
Combined oxidative phosphorylation deficiency 331 test
Combined oxidative phosphorylation deficiency 341 test
Combined oxidative phosphorylation deficiency 351 test
Combined oxidative phosphorylation deficiency 361 test
Combined oxidative phosphorylation deficiency 381 test
Combined oxidative phosphorylation deficiency 392 tests
Combined oxidative phosphorylation deficiency 402 tests
Combined oxidative phosphorylation deficiency 442 tests
Combined oxidative phosphorylation deficiency 452 tests
Combined oxidative phosphorylation deficiency 461 test
Combined oxidative phosphorylation deficiency 482 tests
Combined PSAP deficiency6 tests
Complement component 2 deficiency3 tests
Complement component 3 deficiency4 tests
Complement component 5 deficiency3 tests
Complement component 6 deficiency3 tests
Complement component 7 deficiency3 tests
Complement component 9 deficiency3 tests
Complement component C1s deficiency4 tests
Complement factor b deficiency4 tests
Complete trisomy 13 syndrome2 tests
Complete trisomy 20 syndrome1 test
Complete trisomy 21 syndrome12 tests
Complex cortical dysplasia with other brain malformations 13 tests
Complex cortical dysplasia with other brain malformations 32 tests
Complex cortical dysplasia with other brain malformations 42 tests
Complex cortical dysplasia with other brain malformations 54 tests
Complex cortical dysplasia with other brain malformations 71 test
Compton-North congenital myopathy3 tests
Cone dystrophy 31 test
Cone dystrophy 42 tests
Cone dystrophy with supernormal rod response2 tests
Cone-rod dystrophy 101 test
Cone-rod dystrophy 112 tests
Cone-rod dystrophy 122 tests
Cone-rod dystrophy 132 tests
Cone-rod dystrophy 151 test
Cone-rod dystrophy 163 tests
Cone-rod dystrophy 181 test
Cone-rod dystrophy 191 test
Cone-rod dystrophy 22 tests
Cone-rod dystrophy 201 test
Cone-rod dystrophy 212 tests
Cone-rod dystrophy 33 tests
Cone-rod dystrophy 51 test
Cone-rod dystrophy 63 tests
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod dystrophy and hearing loss 12 tests
Cone-rod dystrophy and hearing loss 23 tests
Cone-rod synaptic disorder, congenital nonprogressive2 tests
Congenital absence of salivary gland2 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency4 tests
Congenital adrenal hypoplasia, X-linked7 tests
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency4 tests
Congenital afibrinogenemia1 test
Congenital amegakaryocytic thrombocytopenia6 tests
Congenital anomalies of kidney and urinary tract 12 tests
Congenital anomalies of kidney and urinary tract 21 test
Congenital anomalies of kidney and urinary tract 32 tests
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation10 tests
Congenital bile acid synthesis defect 12 tests
Congenital bile acid synthesis defect 21 test
Congenital bile acid synthesis defect 37 tests
Congenital bile acid synthesis defect 49 tests
Congenital bile acid synthesis defect 52 tests
Congenital bile acid synthesis defect 62 tests
Congenital brain dysgenesis due to glutamine synthetase deficiency4 tests
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome4 tests
Congenital central hypoventilation1 test
Congenital chromosomal disease1 test
Congenital contractural arachnodactyly2 tests
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital defect of folate absorption7 tests
Congenital diarrhea 5 with tufting enteropathy8 tests
Congenital diarrhea 63 tests
Congenital diarrhea 7 with exudative enteropathy4 tests
Congenital disorder of deglycosylation7 tests
Congenital disorder of deglycosylation 13 tests
Congenital disorder of glycosylation1 test
Congenital disorder of glycosylation type 1E7 tests
Congenital disorder of glycosylation type Ir3 tests
Congenital disorder of glycosylation with defective fucosylation 12 tests
Congenital disorder of glycosylation, type IAA4 tests
Congenital disorder of glycosylation, type ICC9 tests
Congenital disorder of glycosylation, type IIq2 tests
Congenital disorder of glycosylation, type IIr6 tests
Congenital disorder of glycosylation, type IIw5 tests
Congenital dyserythropoietic anemia type 43 tests
Congenital dyserythropoietic anemia, type II6 tests
Congenital generalized lipodystrophy type 12 tests
Congenital generalized lipodystrophy type 27 tests
Congenital generalized lipodystrophy type 33 tests
Congenital glucose-galactose malabsorption5 tests
Congenital heart block1 test
Congenital heart defects and skeletal malformations syndrome1 test
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2 tests
Congenital heart defects, multiple types, 22 tests
Congenital heart defects, multiple types, 42 tests
Congenital heart defects, multiple types, 53 tests
Congenital heart defects, multiple types, 62 tests
Congenital heart disease1 test
Congenital hepatic fibrosis1 test
Congenital hereditary endothelial dystrophy of cornea3 tests
Congenital hyperammonemia, type I12 tests
Congenital hypotrichosis with juvenile macular dystrophy4 tests
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome5 tests
Congenital insensitivity to pain-hypohidrosis syndrome2 tests
Congenital isolated adrenocorticotropic hormone deficiency2 tests
Congenital lactase deficiency3 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type3 tests
Congenital lipoid adrenal hyperplasia due to STAR deficency2 tests
Congenital long QT syndrome1 test
Congenital malabsorptive diarrhea 44 tests
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome10 tests
Congenital microvillous atrophy4 tests
Congenital multicore myopathy with external ophthalmoplegia10 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency4 tests
Congenital muscular dystrophy due to LMNA mutation19 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy7 tests
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome2 tests
Congenital muscular hypertrophy-cerebral syndrome7 tests
Congenital myasthenic syndrome 103 tests
Congenital myasthenic syndrome 115 tests
Congenital myasthenic syndrome 124 tests
Congenital myasthenic syndrome 136 tests
Congenital myasthenic syndrome 143 tests
Congenital myasthenic syndrome 154 tests
Congenital myasthenic syndrome 168 tests
Congenital myasthenic syndrome 175 tests
Congenital myasthenic syndrome 181 test
Congenital myasthenic syndrome 192 tests
Congenital myasthenic syndrome 1A2 tests
Congenital myasthenic syndrome 204 tests
Congenital myasthenic syndrome 212 tests
Congenital myasthenic syndrome 2A2 tests
Congenital myasthenic syndrome 2C2 tests
Congenital myasthenic syndrome 3A2 tests
Congenital myasthenic syndrome 3B2 tests
Congenital myasthenic syndrome 3C2 tests
Congenital myasthenic syndrome 4A5 tests
Congenital myasthenic syndrome 4B5 tests
Congenital myasthenic syndrome 4C7 tests
Congenital myasthenic syndrome 52 tests
Congenital myasthenic syndrome 72 tests
Congenital myasthenic syndrome 82 tests
Congenital myasthenic syndrome 93 tests
Congenital myopathy 233 tests
Congenital myopathy 4A, autosomal dominant5 tests
Congenital myopathy 4B, autosomal recessive3 tests
Congenital myopathy with fiber type disproportion10 tests
Congenital myopathy with internal nuclei and atypical cores3 tests
Congenital myotonia, autosomal dominant form6 tests
Congenital myotonia, autosomal recessive form6 tests
Congenital neutropenia-myelofibrosis-nephromegaly syndrome5 tests
Congenital primary aphakia3 tests
Congenital prothrombin deficiency4 tests
Congenital reticular ichthyosiform erythroderma2 tests
Congenital secretory diarrhea, chloride type4 tests
Congenital secretory sodium diarrhea 33 tests
Congenital secretory sodium diarrhea 83 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome8 tests
Congenital stationary night blindness 1A2 tests
Congenital stationary night blindness 1B2 tests
Congenital stationary night blindness 1C2 tests
Congenital stationary night blindness 1D2 tests
Congenital stationary night blindness 1E2 tests
Congenital stationary night blindness 1F2 tests
Congenital stationary night blindness 1G2 tests
Congenital stationary night blindness 1H2 tests
Congenital stationary night blindness 2A2 tests
Congenital stationary night blindness autosomal dominant 12 tests
Congenital stationary night blindness autosomal dominant 22 tests
Congenital stationary night blindness autosomal dominant 32 tests
Congenital stromal corneal dystrophy1 test
Conotruncal heart malformations14 tests
Constitutional megaloblastic anemia with severe neurologic disease6 tests
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A3 tests
Contractures, pterygia, and variable skeletal fusions syndrome 1B3 tests
COPD, severe early onset4 tests
Cornea plana 22 tests
Corneal dystrophy, Fuchs endothelial, 12 tests
Corneal dystrophy, Fuchs endothelial, 34 tests
Corneal dystrophy, Fuchs endothelial, 43 tests
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, lattice type 3A1 test
Corneal dystrophy, Meesmann, 11 test
Corneal dystrophy, Meesmann, 21 test
Corneal dystrophy, posterior polymorphous, 43 tests
Corneal dystrophy-perceptive deafness syndrome3 tests
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome4 tests
Cornelia de Lange syndrome 13 tests
Cornelia de Lange syndrome 33 tests
Cornelia de Lange syndrome 44 tests
Cornelia de Lange syndrome 54 tests
Coronary artery disease, autosomal dominant 22 tests
Corpus callosum agenesis-abnormal genitalia syndrome9 tests
Cortical dysplasia, complex, with other brain malformations 102 tests
Cortical dysplasia-focal epilepsy syndrome5 tests
Corticosterone 18-monooxygenase deficiency3 tests
Corticosterone methyloxidase type 2 deficiency3 tests
Cortisone reductase deficiency 11 test
Costello syndrome9 tests
Cowden syndrome10 tests
Cowden syndrome 119 tests
Cowden syndrome 34 tests
Cowden syndrome 76 tests
Coxopodopatellar syndrome1 test
Craniodiaphyseal dysplasia, autosomal dominant1 test
Cranioectodermal dysplasia2 tests
Cranioectodermal dysplasia 15 tests
Cranioectodermal dysplasia 23 tests
Cranioectodermal dysplasia 34 tests
Cranioectodermal dysplasia 48 tests
Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
Craniofacial dysplasia - osteopenia syndrome1 test
Craniofacial-deafness-hand syndrome2 tests
Craniofrontonasal syndrome1 test
Craniolenticulosutural dysplasia2 tests
Craniometaphyseal dysplasia, autosomal dominant1 test
Craniometaphyseal dysplasia, autosomal recessive10 tests
Craniosynostosis 22 tests
Craniosynostosis 41 test
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis 62 tests
Craniosynostosis 72 tests
Craniosynostosis syndrome1 test
Creatine transporter deficiency12 tests
Crigler-Najjar syndrome type 12 tests
Crigler-Najjar syndrome, type II2 tests
Cromer blood group system6 tests
Crouzon syndrome4 tests
Crouzon syndrome-acanthosis nigricans syndrome4 tests
Cryohydrocytosis6 tests
Cryptosporidiosis-chronic cholangitis-liver disease syndrome5 tests
Currarino triad3 tests
Curry-Hall syndrome9 tests
Cutaneous leiomyoma1 test
Cutaneous mastocytosis4 tests
Cutaneous porphyria2 tests
Cutis laxa with osteodystrophy4 tests
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1 test
Cutis laxa, autosomal dominant 12 tests
Cutis laxa, autosomal dominant 23 tests
Cutis laxa, autosomal dominant 310 tests
Cutis laxa, autosomal recessive, type 1A3 tests
Cutis laxa, autosomal recessive, type 1B1 test
Cutis laxa, X-linked13 tests
Cyclical neutropenia8 tests
Cyclosporine response1 test
CYP2C19-related poor drug metabolism1 test
Cystic fibrosis18 tests
Cystic leukoencephalopathy without megalencephaly2 tests
Cystinosis2 tests
Cystinuria3 tests
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder2 tests
D,L-2-hydroxyglutaric aciduria1 test
D-2-hydroxyglutaric aciduria 15 tests
D-2-hydroxyglutaric aciduria 24 tests
D-Glyceric aciduria2 tests
Dalmatian hypouricemia3 tests
Danon disease13 tests
DDX41-related hematologic malignancy predisposition syndrome3 tests
DE SANCTIS-CACCHIONE SYNDROME4 tests
Deafness dystonia syndrome4 tests
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, congenital heart defects, and posterior embryotoxon8 tests
Deafness, X-linked 53 tests
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome6 tests
Deafness-lymphedema-leukemia syndrome11 tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase5 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase8 tests
Deficiency of acetyl-CoA acetyltransferase12 tests
Deficiency of alpha-mannosidase11 tests
Deficiency of aromatic-L-amino-acid decarboxylase10 tests
Deficiency of beta-ureidopropionase1 test
Deficiency of bisphosphoglycerate mutase2 tests
Deficiency of butyryl-CoA dehydrogenase6 tests
Deficiency of cytochrome-b5 reductase2 tests
Deficiency of ferroxidase7 tests
Deficiency of galactokinase5 tests
Deficiency of guanidinoacetate methyltransferase10 tests
Deficiency of hyaluronoglucosaminidase5 tests
Deficiency of hydroxymethylglutaryl-CoA lyase13 tests
Deficiency of iodide peroxidase1 test
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of malonyl-CoA decarboxylase10 tests
Deficiency of phosphoserine phosphatase6 tests
Deficiency of steroid 11-beta-monooxygenase3 tests
Deficiency of steroid 17-alpha-monooxygenase3 tests
Deficiency of transaldolase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase8 tests
Dehydrated hereditary stomatocytosis 22 tests
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
Dejerine-Sottas disease4 tests
Deletion of long arm of chromosome 131 test
Delpire-McNeill syndrome2 tests
Dent disease1 test
Dent disease type 16 tests
Dent disease type 210 tests
Denticles1 test
Dentin dysplasia type I1 test
Dentinogenesis imperfecta type 21 test
Dentinogenesis imperfecta type 31 test
Dermatofibrosis lenticularis disseminata2 tests
Dermatopathia pigmentosa reticularis2 tests
Desbuquois dysplasia 14 tests
Desbuquois dysplasia 23 tests
Desmin-related myofibrillar myopathy13 tests
Desmoid disease, hereditary14 tests
Desmosterolosis2 tests
Developmental and epileptic encephalopathy 1011 test
Developmental and epileptic encephalopathy 31B1 test
Developmental and epileptic encephalopathy 6B1 test
Developmental and epileptic encephalopathy 891 test
Developmental and epileptic encephalopathy 942 tests
Developmental and epileptic encephalopathy 981 test
Developmental and epileptic encephalopathy 991 test
Developmental and epileptic encephalopathy, 110 tests
Developmental and epileptic encephalopathy, 113 tests
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 135 tests
Developmental and epileptic encephalopathy, 145 tests
Developmental and epileptic encephalopathy, 153 tests
Developmental and epileptic encephalopathy, 164 tests
Developmental and epileptic encephalopathy, 175 tests
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 193 tests
Developmental and epileptic encephalopathy, 25 tests
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 232 tests
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 256 tests
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 275 tests
Developmental and epileptic encephalopathy, 284 tests
Developmental and epileptic encephalopathy, 32 tests
Developmental and epileptic encephalopathy, 301 test
Developmental and epileptic encephalopathy, 311 test
Developmental and epileptic encephalopathy, 324 tests
Developmental and epileptic encephalopathy, 332 tests
Developmental and epileptic encephalopathy, 342 tests
Developmental and epileptic encephalopathy, 353 tests
Developmental and epileptic encephalopathy, 366 tests
Developmental and epileptic encephalopathy, 372 tests
Developmental and epileptic encephalopathy, 394 tests
Developmental and epileptic encephalopathy, 46 tests
Developmental and epileptic encephalopathy, 413 tests
Developmental and epileptic encephalopathy, 426 tests
Developmental and epileptic encephalopathy, 434 tests
Developmental and epileptic encephalopathy, 442 tests
Developmental and epileptic encephalopathy, 453 tests
Developmental and epileptic encephalopathy, 462 tests
Developmental and epileptic encephalopathy, 472 tests
Developmental and epileptic encephalopathy, 481 test
Developmental and epileptic encephalopathy, 491 test
Developmental and epileptic encephalopathy, 54 tests
Developmental and epileptic encephalopathy, 506 tests
Developmental and epileptic encephalopathy, 512 tests
Developmental and epileptic encephalopathy, 522 tests
Developmental and epileptic encephalopathy, 533 tests
Developmental and epileptic encephalopathy, 543 tests
Developmental and epileptic encephalopathy, 554 tests
Developmental and epileptic encephalopathy, 562 tests
Developmental and epileptic encephalopathy, 583 tests
Developmental and epileptic encephalopathy, 593 tests
Developmental and epileptic encephalopathy, 624 tests
Developmental and epileptic encephalopathy, 631 test
Developmental and epileptic encephalopathy, 643 tests
Developmental and epileptic encephalopathy, 652 tests
Developmental and epileptic encephalopathy, 662 tests
Developmental and epileptic encephalopathy, 683 tests
Developmental and epileptic encephalopathy, 693 tests
Developmental and epileptic encephalopathy, 73 tests
Developmental and epileptic encephalopathy, 731 test
Developmental and epileptic encephalopathy, 743 tests
Developmental and epileptic encephalopathy, 752 tests
Developmental and epileptic encephalopathy, 774 tests
Developmental and epileptic encephalopathy, 783 tests
Developmental and epileptic encephalopathy, 87 tests
Developmental and epileptic encephalopathy, 804 tests
Developmental and epileptic encephalopathy, 815 tests
Developmental and epileptic encephalopathy, 825 tests
Developmental and epileptic encephalopathy, 85, with or without midline brain defects7 tests
Developmental and epileptic encephalopathy, 93 tests
Developmental cataract1 test
Developmental delay1 test
Developmental delay and seizures with or without movement abnormalities8 tests
Developmental delay with or without dysmorphic facies and autism4 tests
Developmental delay with variable intellectual impairment and behavioral abnormalities2 tests
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1 test
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1 test
Developmental malformations-deafness-dystonia syndrome11 tests
Dextromethorphan response1 test
Diabetes insipidus, nephrogenic, autosomal4 tests
Diabetes insipidus, nephrogenic, X-linked4 tests
Diabetes mellitus type 17 tests
Diabetes mellitus, ketosis-prone1 test
Diabetes mellitus, permanent neonatal 23 tests
Diabetes mellitus, permanent neonatal 35 tests
Diabetes mellitus, permanent neonatal 41 test
Diabetes mellitus, transient neonatal, 11 test
Diabetes mellitus, transient neonatal, 25 tests
Diabetes mellitus, transient neonatal, 33 tests
Diamond-Blackfan anemia 14 tests
Diamond-Blackfan anemia 104 tests
Diamond-Blackfan anemia 114 tests
Diamond-Blackfan anemia 123 tests
Diamond-Blackfan anemia 133 tests
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 161 test
Diamond-Blackfan anemia 171 test
Diamond-Blackfan anemia 181 test
Diamond-Blackfan anemia 191 test
Diamond-Blackfan anemia 201 test
Diamond-Blackfan anemia 34 tests
Diamond-Blackfan anemia 54 tests
Diamond-Blackfan anemia 65 tests
Diamond-Blackfan anemia 75 tests
Diamond-Blackfan anemia 84 tests
Diamond-Blackfan anemia 94 tests
Diaphanospondylodysostosis1 test
Diaphragmatic hernia 32 tests
Diaphyseal dysplasia7 tests
Diarrhea 10, protein-losing enteropathy type2 tests
Diarrhea 93 tests
Diastrophic dysplasia7 tests
DICER1-related tumor predisposition3 tests
Diencephalic-mesencephalic junction dysplasia syndrome 12 tests
Diffuse nonepidermolytic palmoplantar keratoderma2 tests
DiGeorge syndrome10 tests
Dihydropteridine reductase deficiency10 tests
Dilated cardiomyopathy 1A20 tests
Dilated cardiomyopathy 1AA8 tests
Dilated cardiomyopathy 1BB8 tests
Dilated cardiomyopathy 1C2 tests
Dilated cardiomyopathy 1D9 tests
Dilated cardiomyopathy 1DD8 tests
Dilated cardiomyopathy 1E8 tests
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF9 tests
Dilated cardiomyopathy 1G13 tests
Dilated cardiomyopathy 1GG11 tests
Dilated cardiomyopathy 1HH13 tests
Dilated cardiomyopathy 1I13 tests
Dilated cardiomyopathy 1II7 tests
Dilated cardiomyopathy 1J4 tests
Dilated cardiomyopathy 1KK3 tests
Dilated cardiomyopathy 1L10 tests
Dilated cardiomyopathy 1M6 tests
Dilated cardiomyopathy 1NN7 tests
Dilated cardiomyopathy 1O5 tests
Dilated cardiomyopathy 1P8 tests
Dilated cardiomyopathy 1R8 tests
Dilated cardiomyopathy 1S10 tests
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy 1V1 test
Dilated cardiomyopathy 1W6 tests
Dilated cardiomyopathy 1X15 tests
Dilated cardiomyopathy 1Y7 tests
Dilated cardiomyopathy 1Z7 tests
Dilated cardiomyopathy 2A9 tests
Dilated cardiomyopathy 3B14 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome20 tests
Disorder due cytochrome p450 CYP1A21 test
Disorder due cytochrome p450 CYP2C19 variant1 test
Disorder due cytochrome p450 CYP2C9 variant1 test
Disorder due cytochrome p450 CYP2D6 variant1 test
Disorder due cytochrome p450 CYP3A41 test
Disorder due cytochrome p450 CYP3A5 variant1 test
Disorder of amino acid metabolism1 test
Disorder of fatty acid metabolism8 tests
Disorder of organic acid metabolism3 tests
Disorder of the urea cycle metabolism5 tests
Distal myopathy with anterior tibial onset6 tests
Distal myopathy with posterior leg and anterior hand involvement11 tests
Distal myopathy, Tateyama type7 tests
Distal trisomy 6q1 test
Distichiasis-lymphedema syndrome2 tests
DK1-congenital disorder of glycosylation7 tests
DNA ligase IV deficiency9 tests
DOCK2 deficiency3 tests
Dominant beta-thalassemia3 tests
Dominant dystrophic epidermolysis bullosa with absence of skin6 tests
Donnai-Barrow syndrome8 tests
DOORS syndrome4 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency10 tests
Dowling-Degos disease 11 test
Dowling-Degos disease 22 tests
Dowling-Degos disease 45 tests
Doyne honeycomb retinal dystrophy2 tests
DPAGT1-congenital disorder of glycosylation6 tests
DPM3-congenital disorder of glycosylation7 tests
Drash syndrome12 tests
Duane retraction syndrome 3 with or without deafness2 tests
Duane-radial ray syndrome3 tests
Dubin-Johnson syndrome2 tests
Duchenne muscular dystrophy14 tests
Duloxetine response1 test
Dyggve-Melchior-Clausen syndrome1 test
DYRK1A-related intellectual disability syndrome5 tests
Dyschromatosis universalis hereditaria 31 test
Dyskeratosis congenita1 test
Dyskeratosis congenita, autosomal dominant 112 tests
Dyskeratosis congenita, autosomal dominant 212 tests
Dyskeratosis congenita, autosomal dominant 38 tests
Dyskeratosis congenita, autosomal dominant 66 tests
Dyskeratosis congenita, autosomal recessive 16 tests
Dyskeratosis congenita, autosomal recessive 26 tests
Dyskeratosis congenita, autosomal recessive 35 tests
Dyskeratosis congenita, autosomal recessive 513 tests
Dyskeratosis congenita, autosomal recessive 68 tests
Dyskeratosis congenita, X-linked13 tests
Dyskinesia with orofacial involvement, autosomal dominant2 tests
Dyslexia, susceptibility to, 13 tests
Dysmorphic features1 test
Dystonia 127 tests
Dystonia 163 tests
Dystonia 242 tests
Dystonia 252 tests
Dystonia 277 tests
Dystonia 28, childhood-onset3 tests
Dystonia 321 test
Dystonia 512 tests
Dystonia 911 tests
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities4 tests
Early-onset autosomal dominant Alzheimer disease1 test
Early-onset generalized limb-onset dystonia3 tests
Early-onset myopathy with fatal cardiomyopathy13 tests
Early-onset Parkinson disease 203 tests
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2 tests
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2 tests
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome2 tests
EAST syndrome8 tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type1 test
Ectodermal dysplasia 13, hair/tooth type1 test
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2 tests
Ectodermal dysplasia 4, hair/nail type1 test
Ectodermal dysplasia 7, hair/nail type1 test
Ectodermal dysplasia and immunodeficiency 25 tests
Ectodermal dysplasia-syndactyly syndrome 12 tests
Ectopia lentis 1, isolated, autosomal dominant8 tests
Ectopia lentis 2, isolated, autosomal recessive2 tests
Ectopia lentis et pupillae2 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 37 tests
Eculizumab, poor response to3 tests
EDICT syndrome1 test
EEM syndrome4 tests
EGFR-related lung cancer1 test
Ehlers-Danlos syndrome progeroid type3 tests
Ehlers-Danlos syndrome, arthrochalasia type4 tests
Ehlers-danlos syndrome, arthrochalasia type, 24 tests
Ehlers-Danlos syndrome, cardiac valvular type4 tests
Ehlers-Danlos syndrome, classic type, 16 tests
Ehlers-Danlos syndrome, classic type, 26 tests
Ehlers-Danlos syndrome, classic-like, 21 test
Ehlers-Danlos syndrome, dermatosparaxis type2 tests
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type5 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 14 tests
Ehlers-Danlos syndrome, musculocontractural type 15 tests
Ehlers-Danlos syndrome, musculocontractural type 23 tests
Ehlers-Danlos syndrome, periodontal type 24 tests
Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 13 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 25 tests
Ehlers-Danlos syndrome, type 48 tests
Eichsfeld type congenital muscular dystrophy3 tests
Eiken syndrome3 tests
Elevated circulating creatine kinase concentration7 tests
Elliptocytosis 12 tests
Elliptocytosis 22 tests
Elliptocytosis 32 tests
Ellis-van Creveld syndrome9 tests
Emery-Dreifuss muscular dystrophy 1, X-linked3 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant20 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive19 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant8 tests
Encephalocraniocutaneous lipomatosis6 tests
Encephalopathy due to defective mitochondrial and peroxisomal fission 22 tests
Encephalopathy due to GLUT1 deficiency11 tests
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 83 tests
Encephalopathy, acute, infection-induced, susceptibility to, 416 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 15 tests
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities6 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 13 tests
Encephalopathy, progressive, with amyotrophy and optic atrophy4 tests
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome4 tests
Endemic goiter1 test
Endometrial carcinoma16 tests
Endometrium neoplasm5 tests
Enhanced S-cone syndrome2 tests
Enterokinase deficiency2 tests
Epidermal nevus11 tests
Epidermodysplasia verruciformis, susceptibility to, 12 tests
Epidermodysplasia verruciformis, susceptibility to, 22 tests
Epidermodysplasia verruciformis, susceptibility to, 32 tests
Epidermodysplasia verruciformis, susceptibility to, 44 tests
Epidermolysis bullosa1 test
Epidermolysis bullosa pruriginosa6 tests
Epidermolysis bullosa simplex 1A, generalized severe2 tests
Epidermolysis bullosa simplex 1C, localized4 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2 tests
Epidermolysis bullosa simplex 2A, generalized severe1 test
Epidermolysis bullosa simplex 2B, generalized intermediate1 test
Epidermolysis bullosa simplex 2C, localized1 test
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive1 test
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency3 tests
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy4 tests
Epidermolysis bullosa simplex 5C, with pyloric atresia4 tests
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1 test
Epidermolysis bullosa simplex 7, with nephropathy and deafness5 tests
Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
Epidermolysis bullosa simplex with migratory circinate erythema1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolysis bullosa simplex with nail dystrophy4 tests
Epidermolysis bullosa simplex, Koebner type2 tests
Epidermolysis bullosa simplex, Ogna type4 tests
Epidermolysis bullosa, junctional 2A, intermediate1 test
Epidermolysis bullosa, junctional 2B, severe1 test
Epidermolysis bullosa, junctional 3A, intermediate1 test
Epidermolysis bullosa, junctional 3B, severe1 test
Epidermolysis bullosa, junctional 4, intermediate1 test
Epidermolysis bullosa, junctional 5A, intermediate2 tests
Epidermolysis bullosa, junctional 6, with pyloric atresia2 tests
Epidermolytic palmoplantar keratoderma2 tests
Epilepsy, childhood absence 22 tests
Epilepsy, childhood absence, susceptibility to, 54 tests
Epilepsy, childhood absence, susceptibility to, 62 tests
Epilepsy, familial adult myoclonic, 51 test
Epilepsy, familial focal, with variable foci 12 tests
Epilepsy, familial focal, with variable foci 32 tests
Epilepsy, familial focal, with variable foci 44 tests
Epilepsy, familial temporal lobe, 13 tests
Epilepsy, idiopathic generalized, susceptibility to, 113 tests
Epilepsy, idiopathic generalized, susceptibility to, 1211 tests
Epilepsy, idiopathic generalized, susceptibility to, 133 tests
Epilepsy, idiopathic generalized, susceptibility to, 142 tests
Epilepsy, idiopathic generalized, susceptibility to, 151 test
Epilepsy, idiopathic generalized, susceptibility to, 165 tests
Epilepsy, idiopathic generalized, susceptibility to, 183 tests
Epilepsy, idiopathic generalized, susceptibility to, 88 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders2 tests
Epileptic encephalopathy, infantile or early childhood, 14 tests
Epileptic encephalopathy, infantile or early childhood, 22 tests
Epileptic encephalopathy, infantile or early childhood, 32 tests
Epiphyseal dysplasia, multiple, 25 tests
Epiphyseal dysplasia, multiple, 35 tests
Epiphyseal dysplasia, multiple, 65 tests
Epiphyseal dysplasia, multiple, 74 tests
Episodic ataxia type 14 tests
Episodic ataxia type 26 tests
Episodic ataxia type 64 tests
Episodic ataxia, type 93 tests
Episodic kinesigenic dyskinesia 14 tests
Epithelial basement membrane dystrophy1 test
Epithelial recurrent erosion dystrophy3 tests
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Erythrocytosis, familial, 63 tests
Erythrocytosis, familial, 73 tests
Erythrokeratodermia variabilis et progressiva 12 tests
Erythrokeratodermia variabilis et progressiva 21 test
Erythrokeratodermia variabilis et progressiva 310 tests
Erythrokeratodermia variabilis et progressiva 41 test
Erythrokeratodermia variabilis et progressiva 51 test
Erythrokeratodermia variabilis et progressiva 62 tests
Essential hypertension4 tests
Essential hypertension, genetic3 tests
Ethylmalonic encephalopathy10 tests
Euthyroid goiter9 tests
Exercise intolerance, riboflavin-responsive1 test
Exercise-induced hyperinsulinism4 tests
Exostoses, multiple, type 11 test
Exostoses, multiple, type 24 tests
Exudative vitreoretinopathy 16 tests
Exudative vitreoretinopathy 2, X-linked3 tests
Exudative vitreoretinopathy 46 tests
Exudative vitreoretinopathy 51 test
Exudative vitreoretinopathy 61 test
Exudative vitreoretinopathy 74 tests
Fabry disease20 tests
Fabry disease, cardiac variant1 test
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1 test
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome7 tests
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1 test
Facioscapulohumeral muscular dystrophy 24 tests
Facioscapulohumeral muscular dystrophy 4, digenic1 test
Factor H deficiency6 tests
Factor I deficiency6 tests
Factor V deficiency4 tests
Factor XII deficiency disease1 test
FADD-related immunodeficiency5 tests
Familial acute necrotizing encephalopathy5 tests
Familial adenomatous polyposis 115 tests
Familial adenomatous polyposis 211 tests
Familial adenomatous polyposis 34 tests
Familial adenomatous polyposis 42 tests
Familial amyloid nephropathy with urticaria AND deafness6 tests
Familial amyloid neuropathy10 tests
Familial aplasia of the vermis3 tests
Familial apolipoprotein C-II deficiency2 tests
Familial atrial myxoma7 tests
Familial atrioventricular septal defect1 test
Familial benign flecked retina1 test
Familial benign pemphigus1 test
Familial cancer of breast35 tests
Familial cold autoinflammatory syndrome 16 tests
Familial cold autoinflammatory syndrome 24 tests
Familial cold autoinflammatory syndrome 36 tests
Familial cold autoinflammatory syndrome 47 tests
Familial colorectal cancer12 tests
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome3 tests
Familial digital arthropathy-brachydactyly5 tests
Familial dysautonomia7 tests
Familial dysfibrinogenemia1 test
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial episodic pain syndrome with predominantly lower limb involvement2 tests
Familial expansile osteolysis5 tests
Familial gestational hyperthyroidism1 test
Familial hemophagocytic lymphohistiocytosis 28 tests
Familial hemophagocytic lymphohistiocytosis 36 tests
Familial hemophagocytic lymphohistiocytosis 46 tests
Familial hemophagocytic lymphohistiocytosis 512 tests
Familial hyperaldosteronism type II3 tests
Familial hyperaldosteronism type III1 test
Familial hypercholesterolemia1 test
Familial hyperthyroidism due to mutations in TSH receptor1 test
Familial hypobetalipoproteinemia 16 tests
Familial hypobetalipoproteinemia 21 test
Familial hypocalciuric hypercalcemia 18 tests
Familial hypocalciuric hypercalcemia 23 tests
Familial hypocalciuric hypercalcemia 31 test
Familial hypokalemia-hypomagnesemia6 tests
Familial idiopathic hypercalciuria2 tests
Familial infantile bilateral striatal necrosis1 test
Familial infantile myasthenia5 tests
Familial infantile myoclonic epilepsy4 tests
Familial isolated congenital asplenia2 tests
Familial isolated deficiency of vitamin E5 tests
Familial juvenile hyperuricemic nephropathy type 16 tests
Familial juvenile hyperuricemic nephropathy type 25 tests
Familial Mediterranean fever10 tests
Familial Mediterranean fever, autosomal dominant10 tests
Familial medullary thyroid carcinoma11 tests
Familial melanoma4 tests
Familial meningioma19 tests
Familial multiple polyposis syndrome9 tests
Familial ovarian carcinoma6 tests
Familial pancreatic carcinoma4 tests
Familial partial lipodystrophy, Dunnigan type20 tests
Familial porphyria cutanea tarda6 tests
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome1 test
Familial prostate carcinoma1 test
Familial pseudohyperkalemia1 test
Familial pulmonary capillary hemangiomatosis1 test
Familial scaphocephaly syndrome, McGillivray type3 tests
Familial spontaneous pneumothorax5 tests
Familial steroid-resistant nephrotic syndrome with sensorineural deafness8 tests
Familial temporal lobe epilepsy 73 tests
Familial thyroid dyshormonogenesis 11 test
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type7 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets6 tests
Fanconi anemia complementation group A6 tests
Fanconi anemia complementation group B5 tests
Fanconi anemia complementation group C6 tests
Fanconi anemia complementation group D110 tests
Fanconi anemia complementation group D24 tests
Fanconi anemia complementation group E5 tests
Fanconi anemia complementation group F4 tests
Fanconi anemia complementation group G4 tests
Fanconi anemia complementation group I5 tests
Fanconi anemia complementation group J8 tests
Fanconi anemia complementation group L5 tests
Fanconi anemia complementation group N12 tests
Fanconi anemia complementation group O7 tests
Fanconi anemia complementation group P5 tests
Fanconi anemia complementation group Q3 tests
Fanconi anemia complementation group R1 test
Fanconi anemia complementation group T3 tests
Fanconi anemia complementation group U1 test
Fanconi anemia complementation group V2 tests
Fanconi anemia, complementation group S8 tests
Fanconi anemia, complementation group W2 tests
Fanconi renotubular syndrome 114 tests
Fanconi renotubular syndrome 27 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
Fanconi renotubular syndrome 52 tests
Fanconi-Bickel syndrome7 tests
Farber lipogranulomatosis12 tests
Fatal familial insomnia2 tests
Fatal infantile hypertonic myofibrillar myopathy7 tests
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 36 tests
Fatty acyl-CoA reductase 1 deficiency3 tests
Febrile seizures, familial, 44 tests
Febrile seizures, familial, 81 test
Feingold syndrome type 12 tests
Fetal akinesia deformation sequence 13 tests
Fetal akinesia deformation sequence 25 tests
Fetal akinesia deformation sequence 33 tests
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies1 test
Fetal akinesia-cerebral and retinal hemorrhage syndrome7 tests
Fetal hemoglobin quantitative trait locus 63 tests
FG syndrome1 test
FG syndrome 16 tests
FG syndrome 29 tests
FG syndrome 44 tests
Fibrochondrogenesis 15 tests
Fibrochondrogenesis 26 tests
Fibromatosis, gingival, 16 tests
Fibromuscular dysplasia, multifocal3 tests
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement3 tests
Fibrous dysplasia of jaw3 tests
Filippi syndrome2 tests
Finnish congenital nephrotic syndrome6 tests
Fish-eye disease4 tests
Fleck corneal dystrophy1 test
Floating-Harbor syndrome4 tests
Fluoxetine response1 test
Focal dermal hypoplasia3 tests
Focal facial dermal dysplasia type III1 test
Focal segmental glomerulosclerosis 13 tests
Focal segmental glomerulosclerosis 23 tests
Focal segmental glomerulosclerosis 3, susceptibility to3 tests
Focal segmental glomerulosclerosis 4, susceptibility to3 tests
Focal segmental glomerulosclerosis 56 tests
Focal segmental glomerulosclerosis 63 tests
Focal segmental glomerulosclerosis 77 tests
Focal segmental glomerulosclerosis 84 tests
Focal segmental glomerulosclerosis 94 tests
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1 test
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome4 tests
Foveal hypoplasia 16 tests
Fowler syndrome1 test
Fragile X syndrome5 tests
Fragile X-associated tremor/ataxia syndrome4 tests
Frank-Ter Haar syndrome2 tests
Fraser syndrome 16 tests
Fraser syndrome 26 tests
Fraser syndrome 35 tests
Frasier syndrome12 tests
Freeman-Sheldon syndrome3 tests
Frontometaphyseal dysplasia 19 tests
Frontometaphyseal dysplasia 21 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome2 tests
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny1 test
Frontotemporal dementia4 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 28 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 311 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 44 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 66 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 73 tests
Fructose-biphosphatase deficiency5 tests
Fucosidosis9 tests
Fuhrmann syndrome1 test
Fumarase deficiency14 tests
G6PD deficiency1 test
Galactosemia 42 tests
Galactosylceramide beta-galactosidase deficiency14 tests
Gallbladder disease 45 tests
Galloway-Mowat syndrome 14 tests
Galloway-Mowat syndrome 102 tests
Galloway-Mowat syndrome 2, X-linked3 tests
Galloway-Mowat syndrome 33 tests
Galloway-Mowat syndrome 43 tests
Galloway-Mowat syndrome 52 tests
Galloway-Mowat syndrome 62 tests
Galloway-Mowat syndrome 73 tests
Galloway-Mowat syndrome 82 tests
Gamma-aminobutyric acid transaminase deficiency6 tests
Gamma-glutamylcysteine synthetase deficiency4 tests
GAPO syndrome1 test
Gardner syndrome8 tests
Gastric adenocarcinoma and proximal polyposis of the stomach6 tests
Gastric cancer9 tests
Gastrointestinal stromal tumor15 tests
Gaucher disease1 test
Gaucher disease due to saposin C deficiency6 tests
Gaucher disease perinatal lethal5 tests
Gaucher disease type I5 tests
Gaucher disease type II5 tests
Gaucher disease type III5 tests
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome5 tests
GCGR-related hyperglucagonemia1 test
Geleophysic dysplasia 28 tests
Geleophysic dysplasia 34 tests
Generalized dominant dystrophic epidermolysis bullosa6 tests
Generalized epilepsy with febrile seizures plus, type 12 tests
Generalized epilepsy with febrile seizures plus, type 101 test
Generalized epilepsy with febrile seizures plus, type 24 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy with febrile seizures plus, type 91 test
Generalized epilepsy-paroxysmal dyskinesia syndrome5 tests
Generalized juvenile polyposis/juvenile polyposis coli10 tests
Generalized pustular psoriasis3 tests
Genitopatellar syndrome6 tests
Genitourinary and/or brain malformation syndrome1 test
Germ cell tumor of testis14 tests
Geroderma osteodysplastica6 tests
Gerstmann-Straussler-Scheinker syndrome2 tests
Ghosal hematodiaphyseal dysplasia1 test
Giant axonal neuropathy 12 tests
Gilbert syndrome2 tests
Gillespie syndrome5 tests
Gillessen-Kaesbach-Nishimura syndrome5 tests
Glanzmann thrombasthenia 12 tests
Glanzmann thrombasthenia 21 test
Glaucoma 1, open angle, A1 test
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G1 test
Glaucoma 3, primary congenital, D4 tests
Glaucoma 3, primary congenital, E1 test
Glaucoma 3, primary infantile, B6 tests
Glaucoma 3A3 tests
Glaucoma, normal tension, susceptibility to8 tests
Glaucoma, primary closed-angle4 tests
Glioma1 test
Glioma susceptibility 112 tests
Glioma susceptibility 213 tests
Glioma susceptibility 310 tests
Glioma susceptibility 95 tests
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome8 tests
Glomerulopathy with fibronectin deposits 24 tests
Glucocorticoid deficiency 42 tests
Glucocorticoid deficiency with achalasia3 tests
Glucocorticoid resistance1 test
Glucocorticoid-remediable aldosteronism3 tests
Glucose-6-phosphate transport defect16 tests
Glutamate formiminotransferase deficiency3 tests
Glutaric aciduria, type 19 tests
Glutaryl-CoA oxidase deficiency2 tests
Glutathione synthetase deficiency with 5-oxoprolinuria6 tests
Glutathione synthetase deficiency without 5-oxoprolinuria8 tests
Glycine N-methyltransferase deficiency4 tests
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency6 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency5 tests
Glycogen storage disease due to muscle beta-enolase deficiency4 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency6 tests
Glycogen storage disease IXa12 tests
Glycogen storage disease IXb5 tests
Glycogen storage disease IXc3 tests
Glycogen storage disease IXd4 tests
Glycogen storage disease type III8 tests
Glycogen storage disease type X4 tests
Glycogen storage disease XV5 tests
Glycogen storage disease, type II20 tests
Glycogen storage disease, type IV8 tests
Glycogen storage disease, type V3 tests
Glycogen storage disease, type VI2 tests
Glycogen storage disease, type VII7 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
Glycosylphosphatidylinositol biosynthesis defect 153 tests
Glycosylphosphatidylinositol biosynthesis defect 162 tests
Glycosylphosphatidylinositol biosynthesis defect 213 tests
GM1 gangliosidosis type 211 tests
GM1 gangliosidosis type 311 tests
GM3 synthase deficiency6 tests
Gnathodiaphyseal dysplasia7 tests
GNE myopathy8 tests
GNPTG-mucolipidosis5 tests
Gonadotropin-independent familial sexual precocity1 test
Gordon syndrome1 test
Gorlin syndrome10 tests
GRACILE syndrome7 tests
Graft-versus-host disease, susceptibility to5 tests
Granulocytopenia with immunoglobulin abnormality3 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative7 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 27 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 36 tests
Granulomatous disease, chronic, X-linked7 tests
Grebe syndrome3 tests
Greenberg dysplasia1 test
Greig cephalopolysyndactyly syndrome5 tests
Griscelli syndrome type 12 tests
Griscelli syndrome type 28 tests
Griscelli syndrome type 32 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions3 tests
Groenouw corneal dystrophy type I1 test
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1 test
Growth delay due to insulin-like growth factor I resistance1 test
Growth delay due to insulin-like growth factor type 1 deficiency1 test
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant4 tests
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive4 tests
GTP cyclohydrolase I deficiency8 tests
GTP cyclohydrolase I deficiency with hyperphenylalaninemia4 tests
Guillain-Barre syndrome, familial4 tests
Guttmacher syndrome4 tests
H syndrome6 tests
Haim-Munk syndrome6 tests
Hair morphology 11 test
Hajdu-Cheney syndrome11 tests
Hamartoma of hypothalamus3 tests
Hand-foot-genital syndrome4 tests
Hao-Fountain syndrome2 tests
Harderoporphyria4 tests
Hartsfield-Bixler-Demyer syndrome6 tests
Hashimoto thyroiditis8 tests
Hawkinsinuria3 tests
Hb SS disease4 tests
Hearing loss, autosomal dominant 34, with or without inflammation6 tests
Hearing loss, autosomal dominant 375 tests
Hearing loss, autosomal dominant 715 tests
Hearing loss, autosomal dominant 721 test
Hearing loss, autosomal dominant 754 tests
Hearing loss, autosomal dominant 782 tests
Hearing loss, autosomal dominant 802 tests
Hearing loss, autosomal dominant 811 test
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1071 test
Hearing loss, autosomal recessive 1081 test
Hearing loss, autosomal recessive 1101 test
Hearing loss, autosomal recessive 1131 test
Hearing loss, autosomal recessive 573 tests
Hearing loss, autosomal recessive 943 tests
Hearing loss, autosomal recessive 991 test
Hearing loss, X-linked 110 tests
Hearing loss, X-linked 43 tests
Hearing loss, X-linked 64 tests
Heart defect - tongue hamartoma - polysyndactyly syndrome6 tests
Heart, malformation of1 test
Heart-hand syndrome, Slovenian type20 tests
Heimler syndrome 113 tests
Heimler syndrome 216 tests
Heinz body anemia3 tests
Helicobacter pylori infection, susceptibility to2 tests
Helicoid peripapillary chorioretinal degeneration1 test
Hematologic neoplasm1 test
Heme oxygenase 1 deficiency4 tests
Hemochromatosis type 16 tests
Hemochromatosis type 2A4 tests
Hemochromatosis type 2B4 tests
Hemochromatosis type 35 tests
Hemochromatosis type 43 tests
Hemochromatosis type 52 tests
Hemoglobin H disease3 tests
Hemoglobin, high altitude adaptation1 test
Hemolytic anemia due to adenylate kinase deficiency2 tests
Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
Hemolytic anemia due to glutathione reductase deficiency2 tests
Hemolytic anemia due to hexokinase deficiency5 tests
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency4 tests
Hemolytic uremic syndrome, atypical, susceptibility to, 16 tests
Hemorrhage, intracerebral, susceptibility to17 tests
Hennekam lymphangiectasia-lymphedema syndrome 15 tests
Hennekam lymphangiectasia-lymphedema syndrome 28 tests
Hepatic adenomas, familial7 tests
Hepatic methionine adenosyltransferase deficiency6 tests
Hepatic veno-occlusive disease-immunodeficiency syndrome3 tests
Hepatitis B virus, susceptibility to5 tests
Hepatitis C virus, susceptibility to3 tests
Hepatitis, fulminant viral, susceptibility to2 tests
Hepatocellular carcinoma21 tests
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 13 tests
Hereditary acrodermatitis enteropathica1 test
Hereditary angioedema type 14 tests
Hereditary angioedema type 31 test
Hereditary antithrombin deficiency5 tests
Hereditary breast ovarian cancer syndrome10 tests
Hereditary cancer-predisposing syndrome4 tests
Hereditary cerebral amyloid angiopathy, Icelandic type1 test
Hereditary coproporphyria5 tests
Hereditary cryohydrocytosis with reduced stomatin11 tests
Hereditary diffuse gastric adenocarcinoma21 tests
Hereditary diffuse leukoencephalopathy with spheroids3 tests
Hereditary disease1 test
Hereditary factor IX deficiency disease6 tests
Hereditary fructosuria6 tests
Hereditary hearing loss and deafness2 tests
Hereditary hyperferritinemia with congenital cataracts5 tests
Hereditary insensitivity to pain with anhidrosis5 tests
Hereditary leiomyomatosis and renal cell cancer11 tests
Hereditary liability to pressure palsies4 tests
Hereditary motor and sensory neuropathy with optic atrophy4 tests
Hereditary motor and sensory neuropathy, Okinawa type6 tests
Hereditary myopathy with lactic acidosis due to ISCU deficiency5 tests
Hereditary pancreatitis10 tests
Hereditary persistence of fetal hemoglobin3 tests
Hereditary pheochromocytoma-paraganglioma7 tests
Hereditary sensory and autonomic neuropathy type 63 tests
Hereditary sensory and autonomic neuropathy type 72 tests
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary sensory neuropathy-deafness-dementia syndrome3 tests
Hereditary spastic paraplegia 106 tests
Hereditary spastic paraplegia 118 tests
Hereditary spastic paraplegia 122 tests
Hereditary spastic paraplegia 134 tests
Hereditary spastic paraplegia 155 tests
Hereditary spastic paraplegia 177 tests
Hereditary spastic paraplegia 182 tests
Hereditary spastic paraplegia 26 tests
Hereditary spastic paraplegia 232 tests
Hereditary spastic paraplegia 266 tests
Hereditary spastic paraplegia 283 tests
Hereditary spastic paraplegia 309 tests
Hereditary spastic paraplegia 315 tests
Hereditary spastic paraplegia 357 tests
Hereditary spastic paraplegia 393 tests
Hereditary spastic paraplegia 3A4 tests
Hereditary spastic paraplegia 45 tests
Hereditary spastic paraplegia 424 tests
Hereditary spastic paraplegia 437 tests
Hereditary spastic paraplegia 442 tests
Hereditary spastic paraplegia 453 tests
Hereditary spastic paraplegia 462 tests
Hereditary spastic paraplegia 473 tests
Hereditary spastic paraplegia 483 tests
Hereditary spastic paraplegia 493 tests
Hereditary spastic paraplegia 505 tests
Hereditary spastic paraplegia 513 tests
Hereditary spastic paraplegia 531 test
Hereditary spastic paraplegia 543 tests
Hereditary spastic paraplegia 552 tests
Hereditary spastic paraplegia 562 tests
Hereditary spastic paraplegia 575 tests
Hereditary spastic paraplegia 5A7 tests
Hereditary spastic paraplegia 62 tests
Hereditary spastic paraplegia 612 tests
Hereditary spastic paraplegia 622 tests
Hereditary spastic paraplegia 633 tests
Hereditary spastic paraplegia 643 tests
Hereditary spastic paraplegia 74 tests
Hereditary spastic paraplegia 722 tests
Hereditary spastic paraplegia 732 tests
Hereditary spastic paraplegia 747 tests
Hereditary spastic paraplegia 753 tests
Hereditary spastic paraplegia 775 tests
Hereditary spastic paraplegia 82 tests
Hereditary spastic paraplegia 9A7 tests
Hereditary spherocytosis type 12 tests
Hereditary spherocytosis type 22 tests
Hereditary spherocytosis type 32 tests
Hereditary spherocytosis type 46 tests
Hereditary spherocytosis type 52 tests
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX16 tests
Hereditary xanthinuria type 14 tests
Hermansky-Pudlak syndrome 19 tests
Hermansky-Pudlak syndrome 106 tests
Hermansky-Pudlak syndrome 29 tests
Hermansky-Pudlak syndrome 38 tests
Hermansky-Pudlak syndrome 46 tests
Hermansky-Pudlak syndrome 56 tests
Hermansky-Pudlak syndrome 66 tests
Hermansky-Pudlak syndrome 75 tests
Hermansky-Pudlak syndrome 86 tests
Hermansky-Pudlak syndrome 98 tests
Herpes simplex encephalitis, susceptibility to, 12 tests
Herpes simplex encephalitis, susceptibility to, 32 tests
Herpes simplex encephalitis, susceptibility to, 42 tests
Heterotaxy, visceral, 1, X-linked2 tests
Heterotaxy, visceral, 4, autosomal2 tests
Heterotaxy, visceral, 5, autosomal2 tests
Heterotaxy, visceral, 6, autosomal1 test
Heterotaxy, visceral, 8, autosomal1 test
Heterotopia, periventricular, X-linked dominant9 tests
Heyn-Sproul-Jackson syndrome4 tests
Hiatt-Neu-Cooper neurodevelopmental syndrome1 test
Hidrotic ectodermal dysplasia syndrome4 tests
High myopia-sensorineural deafness syndrome1 test
Hirschsprung disease, susceptibility to, 16 tests
Hirschsprung disease, susceptibility to, 23 tests
Hirschsprung disease, susceptibility to, 42 tests
Histiocytic medullary reticulosis8 tests
HNSHA due to aldolase A deficiency6 tests
Hogue-Janssens syndrome 13 tests
Holocarboxylase synthetase deficiency11 tests
Holoprosencephaly 112 tests
Holoprosencephaly 12 with or without pancreatic agenesis2 tests
Holoprosencephaly 13, X-linked4 tests
Holoprosencephaly 22 tests
Holoprosencephaly 34 tests
Holoprosencephaly 43 tests
Holoprosencephaly 55 tests
Holoprosencephaly 75 tests
Holoprosencephaly 95 tests
Holoprosencephaly sequence2 tests
Holt-Oram syndrome4 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency10 tests
Houge-Janssens syndrome 23 tests
Houge-Janssens syndrome 31 test
HSD10 mitochondrial disease9 tests
Humerofemoral hypoplasia with radiotibial ray deficiency1 test
Huntington disease-like 12 tests
Huppke-Brendel syndrome4 tests
Hurler syndrome11 tests
Hurthle cell carcinoma of thyroid1 test
Hutchinson-Gilford syndrome20 tests
Hydrocephalus, nonsyndromic, autosomal recessive 14 tests
Hydrocephalus, nonsyndromic, autosomal recessive 22 tests
Hydrolethalus syndrome 11 test
Hydrolethalus syndrome 28 tests
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome5 tests
Hyper-IgE recurrent infection syndrome 1, autosomal dominant11 tests
Hyper-IgE recurrent infection syndrome 3, autosomal recessive7 tests
Hyper-IgE recurrent infection syndrome 4, autosomal recessive4 tests
Hyper-IgE recurrent infection syndrome 5, autosomal recessive4 tests
Hyper-IgM syndrome type 111 tests
Hyper-IgM syndrome type 26 tests
Hyper-IgM syndrome type 311 tests
Hyper-IgM syndrome type 54 tests
Hyperaldosteronism, familial, type IV2 tests
Hyperalphalipoproteinemia 11 test
Hyperammonemia, type III10 tests
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency7 tests
Hyperbiliverdinemia1 test
Hypercalcemia, infantile, 14 tests
Hypercalcemia, infantile, 27 tests
Hypercholanemia, familial 12 tests
Hypercholesterolemia, autosomal dominant, 38 tests
Hypercholesterolemia, autosomal dominant, type B8 tests
Hypercholesterolemia, familial, 111 tests
Hypercholesterolemia, familial, 48 tests
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency3 tests
Hyperekplexia 110 tests
Hyperekplexia 26 tests
Hyperekplexia 36 tests
Hyperekplexia 46 tests
Hyperglycinuria7 tests
Hyperimmunoglobulin D with periodic fever12 tests
Hyperinsulinemic hypoglycemia, familial, 15 tests
Hyperinsulinemic hypoglycemia, familial, 23 tests
Hyperinsulinemic hypoglycemia, familial, 49 tests
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism-hyperammonemia syndrome4 tests
Hyperkalemic periodic paralysis8 tests
Hyperlipidemia, familial combined, LPL related2 tests
Hyperlipoproteinemia, type 1D1 test
Hyperlipoproteinemia, type I2 tests
Hyperlysinemia1 test
Hypermanganesemia with dystonia 26 tests
Hypermanganesemia with dystonia, polycythemia, and cirrhosis7 tests
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase7 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome11 tests
Hyperostosis cranialis interna6 tests
Hyperparathyroidism2 tests
Hyperparathyroidism 17 tests
Hyperparathyroidism 2 with jaw tumors4 tests
Hyperparathyroidism 42 tests
Hyperphenylalaninemia due to DNAJC12 deficiency7 tests
Hyperphosphatasemia tarda1 test
Hyperphosphatasemia with bone disease2 tests
Hyperphosphatasia with intellectual disability syndrome 15 tests
Hyperphosphatasia with intellectual disability syndrome 23 tests
Hyperphosphatasia with intellectual disability syndrome 32 tests
Hyperphosphatasia with intellectual disability syndrome 43 tests
Hyperphosphatasia with intellectual disability syndrome 53 tests
Hyperphosphatasia with intellectual disability syndrome 62 tests
Hyperpigmentation with or without hypopigmentation, familial progressive2 tests
Hyperproinsulinemia1 test
Hyperprolinemia1 test
Hyperprolinemia type 24 tests
Hyperthyroxinemia, dystransthyretinemic9 tests
Hyperthyroxinemia, familial dysalbuminemic1 test
Hypertrichotic osteochondrodysplasia Cantu type5 tests
Hypertriglyceridemia 11 test
Hypertriglyceridemia 21 test
Hypertrophic cardiomyopathy 114 tests
Hypertrophic cardiomyopathy 109 tests
Hypertrophic cardiomyopathy 118 tests
Hypertrophic cardiomyopathy 126 tests
Hypertrophic cardiomyopathy 137 tests
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 156 tests
Hypertrophic cardiomyopathy 188 tests
Hypertrophic cardiomyopathy 29 tests
Hypertrophic cardiomyopathy 2511 tests
Hypertrophic cardiomyopathy 2611 tests
Hypertrophic cardiomyopathy 37 tests
Hypertrophic cardiomyopathy 47 tests
Hypertrophic cardiomyopathy 68 tests
Hypertrophic cardiomyopathy 79 tests
Hypertrophic cardiomyopathy 84 tests
Hypertrophic cardiomyopathy 913 tests
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome4 tests
Hyperuricemic nephropathy, familial juvenile type 46 tests
Hypervalinemia and hyperleucine-isoleucinemia3 tests
Hypoalphalipoproteinemia, primary, 12 tests
Hypoalphalipoproteinemia, primary, 23 tests
Hypoalphalipoproteinemia, primary, 2, intermediate1 test
Hypochondroplasia3 tests
Hypogonadotropic hypogonadism 1 with or without anosmia3 tests
Hypogonadotropic hypogonadism 10 with or without anosmia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypogonadotropic hypogonadism 12 with or without anosmia1 test
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 15 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia1 test
Hypogonadotropic hypogonadism 17 with or without anosmia1 test
Hypogonadotropic hypogonadism 18 with or without anosmia1 test
Hypogonadotropic hypogonadism 19 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia7 tests
Hypogonadotropic hypogonadism 20 with or without anosmia1 test
Hypogonadotropic hypogonadism 21 with or without anosmia1 test
Hypogonadotropic hypogonadism 22 with or without anosmia1 test
Hypogonadotropic hypogonadism 24 without anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia2 tests
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia12 tests
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia5 tests
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome3 tests
Hypohidrotic X-linked ectodermal dysplasia2 tests
Hypoinsulinemic hypoglycemia and body hemihypertrophy3 tests
Hypokalemic periodic paralysis, type 113 tests
Hypokalemic periodic paralysis, type 28 tests
Hypomagnesemia, seizures, and intellectual disability 15 tests
Hypomagnesemia, seizures, and intellectual disability 23 tests
Hypomyelinating leukodystrophy 101 test
Hypomyelinating leukodystrophy 113 tests
Hypomyelinating leukodystrophy 122 tests
Hypomyelinating leukodystrophy 131 test
Hypomyelinating leukodystrophy 22 tests
Hypomyelinating leukodystrophy 31 test
Hypomyelinating leukodystrophy 44 tests
Hypomyelinating leukodystrophy 64 tests
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2 tests
Hypomyelination and Congenital Cataract3 tests
Hypoparathyroidism, deafness, renal disease syndrome5 tests
Hypoparathyroidism, familial isolated 11 test
Hypoparathyroidism, familial isolated, 22 tests
Hypoparathyroidism-retardation-dysmorphism syndrome4 tests
Hypophosphatasia1 test
Hypophosphatemic nephrolithiasis/osteoporosis 17 tests
Hypophosphatemic nephrolithiasis/osteoporosis 21 test
Hypophosphatemic rickets, autosomal recessive, 13 tests
Hypophosphatemic rickets, autosomal recessive, 25 tests
Hypophosphatemic rickets, X-linked recessive7 tests
Hypopigmentation, organomegaly, and delayed myelination and development7 tests
Hypopigmentation-punctate palmoplantar keratoderma syndrome4 tests
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoplastic left heart syndrome 111 tests
Hypoplastic left heart syndrome 26 tests
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome2 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration10 tests
Hypoproteinemia, hypercatabolic4 tests
Hypospadias 1, X-linked2 tests
Hypospadias 2, X-linked1 test
Hypothyroidism due to TSH receptor mutations1 test
Hypothyroidism, congenital, nongoitrous, 55 tests
Hypotonia with lactic acidemia and hyperammonemia2 tests
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome2 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 34 tests
Hypotrichosis 111 test
Hypotrichosis 121 test
Hypotrichosis 131 test
Hypotrichosis 141 test
Hypotrichosis 22 tests
Hypotrichosis 31 test
Hypotrichosis 61 test
Hypotrichosis 71 test
Hypotrichosis 81 test
Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome2 tests
Hypouricemia, renal, 23 tests
Ichthyosis bullosa of Siemens1 test
Ichthyosis hystrix of Curth-Macklin2 tests
Ichthyosis prematurity syndrome3 tests
Ichthyosis, congenital, autosomal recessive 131 test
Ichthyosis, congenital, autosomal recessive 141 test
Ichthyosis, hystrix-like, with hearing loss6 tests
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features2 tests
Idiopathic basal ganglia calcification 13 tests
Idiopathic CD4 lymphocytopenia1 test
Idiopathic hypereosinophilic syndrome3 tests
IFAP syndrome 1, with or without BRESHECK syndrome4 tests
IgE responsiveness, atopic5 tests
IL21-related infantile inflammatory bowel disease7 tests
IMAGe syndrome7 tests
Imerslund-Grasbeck syndrome type 17 tests
Imerslund-Grasbeck syndrome type 28 tests
Iminoglycinuria7 tests
Immunodeficiency 1044 tests
Immunodeficiency 1051 test
Immunodeficiency 11b with atopic dermatitis5 tests
Immunodeficiency 149 tests
Immunodeficiency 15a4 tests
Immunodeficiency 184 tests
Immunodeficiency 194 tests
Immunodeficiency 2312 tests
Immunodeficiency 253 tests
Immunodeficiency 27A2 tests
Immunodeficiency 282 tests
Immunodeficiency 31B6 tests
Immunodeficiency 32B2 tests
Immunodeficiency 353 tests
Immunodeficiency 3611 tests
Immunodeficiency 373 tests
Immunodeficiency 392 tests
Immunodeficiency 452 tests
Immunodeficiency 478 tests
Immunodeficiency 494 tests
Immunodeficiency 512 tests
Immunodeficiency 533 tests
Immunodeficiency 575 tests
Immunodeficiency 605 tests
Immunodeficiency 613 tests
Immunodeficiency 623 tests
Immunodeficiency 63 with lymphoproliferation and autoimmunity7 tests
Immunodeficiency 644 tests
Immunodeficiency 65, susceptibility to viral infections2 tests
Immunodeficiency 672 tests
Immunodeficiency 72 with autoinflammation2 tests
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia7 tests
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia7 tests
Immunodeficiency 74, COVID-19-related, X-linked2 tests
Immunodeficiency 751 test
Immunodeficiency 766 tests
Immunodeficiency 78 with autoimmunity and developmental delay4 tests
Immunodeficiency 83, susceptibility to viral infections2 tests
Immunodeficiency 951 test
Immunodeficiency due to CD25 deficiency7 tests
Immunodeficiency, common variable, 17 tests
Immunodeficiency, common variable, 104 tests
Immunodeficiency, common variable, 124 tests
Immunodeficiency, common variable, 145 tests
Immunodeficiency, common variable, 210 tests
Immunodeficiency, common variable, 35 tests
Immunodeficiency, common variable, 44 tests
Immunodeficiency, common variable, 53 tests
Immunodeficiency, common variable, 65 tests
Immunodeficiency, common variable, 74 tests
Immunodeficiency, developmental delay, and hypohomocysteinemia4 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 15 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 25 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 34 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 44 tests
Immunoglobulin A deficiency 25 tests
Immunoglobulin-mediated membranoproliferative glomerulonephritis5 tests
Immunoskeletal dysplasia with neurodevelopmental abnormalities6 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 25 tests
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 15 tests
Infantile bilateral striatal necrosis1 test
Infantile cerebellar-retinal degeneration4 tests
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly3 tests
Infantile convulsions and choreoathetosis4 tests
Infantile cortical hyperostosis4 tests
Infantile GM1 gangliosidosis12 tests
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency2 tests
Infantile hypophosphatasia7 tests
Infantile liver failure syndrome 26 tests
Infantile liver failure syndrome 31 test
Infantile nephronophthisis9 tests
Infantile nephropathic cystinosis1 test
Infantile neuroaxonal dystrophy10 tests
Infantile onset spinocerebellar ataxia8 tests
Infantile-onset ascending hereditary spastic paralysis4 tests
Infantile-onset generalized dyskinesia with orofacial involvement1 test
Infantile-onset periodic fever-panniculitis-dermatosis syndrome3 tests
Infantile-onset X-linked spinal muscular atrophy2 tests
Inflammatory bowel disease 15 tests
Inflammatory bowel disease 172 tests
Inflammatory bowel disease 255 tests
Inflammatory bowel disease 285 tests
Inflammatory bowel disease 305 tests
Inflammatory bowel disease, immunodeficiency, and encephalopathy7 tests
Inflammatory skin and bowel disease, neonatal, 15 tests
Inflammatory skin and bowel disease, neonatal, 23 tests
Inherited Creutzfeldt-Jakob disease2 tests
Inherited obesity1 test
Inherited prion disease1 test
Inosine triphosphatase deficiency3 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome8 tests
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual developmental disorder 60 with seizures1 test
Intellectual developmental disorder with autism and macrocephaly3 tests
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures2 tests
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1 test
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies4 tests
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1 test
Intellectual developmental disorder with paroxysmal dyskinesia or seizures1 test
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities4 tests
Intellectual developmental disorder, autosomal recessive 742 tests
Intellectual developmental disorder, autosomal recessive 771 test
Intellectual developmental disorder, X-linked 1082 tests
Intellectual disability1 test
Intellectual disability, autosomal dominant 13 tests
Intellectual disability, autosomal dominant 136 tests
Intellectual disability, autosomal dominant 144 tests
Intellectual disability, autosomal dominant 157 tests
Intellectual disability, autosomal dominant 168 tests
Intellectual disability, autosomal dominant 204 tests
Intellectual disability, autosomal dominant 223 tests
Intellectual disability, autosomal dominant 243 tests
Intellectual disability, autosomal dominant 273 tests
Intellectual disability, autosomal dominant 294 tests
Intellectual disability, autosomal dominant 302 tests
Intellectual disability, autosomal dominant 382 tests
Intellectual disability, autosomal dominant 413 tests
Intellectual disability, autosomal dominant 422 tests
Intellectual disability, autosomal dominant 432 tests
Intellectual disability, autosomal dominant 461 test
Intellectual disability, autosomal dominant 472 tests
Intellectual disability, autosomal dominant 53 tests
Intellectual disability, autosomal dominant 501 test
Intellectual disability, autosomal dominant 542 tests
Intellectual disability, autosomal dominant 55, with seizures4 tests
Intellectual disability, autosomal dominant 563 tests
Intellectual disability, autosomal dominant 65 tests
Intellectual disability, autosomal dominant 84 tests
Intellectual disability, autosomal dominant 99 tests
Intellectual disability, autosomal recessive 123 tests
Intellectual disability, autosomal recessive 135 tests
Intellectual disability, autosomal recessive 31 test
Intellectual disability, autosomal recessive 341 test
Intellectual disability, autosomal recessive 423 tests
Intellectual disability, autosomal recessive 461 test
Intellectual disability, autosomal recessive 52 tests
Intellectual disability, autosomal recessive 534 tests
Intellectual disability, autosomal recessive 611 test
Intellectual disability, autosomal recessive 72 tests
Intellectual disability, X-linked 16 tests
Intellectual disability, X-linked 1024 tests
Intellectual disability, X-linked 1062 tests
Intellectual disability, X-linked 195 tests
Intellectual disability, X-linked 211 test
Intellectual disability, X-linked 302 tests
Intellectual disability, X-linked 494 tests
Intellectual disability, X-linked 501 test
Intellectual disability, X-linked 722 tests
Intellectual disability, X-linked 932 tests
Intellectual disability, X-linked 992 tests
Intellectual disability, X-linked 99, syndromic, female-restricted2 tests
Intellectual disability, X-linked syndromic, Turner type1 test
Intellectual disability, X-linked, syndromic 333 tests
Intellectual disability, X-linked, with or without seizures, arx-related9 tests
Intellectual disability, X-linked, with panhypopituitarism2 tests
Intellectual disability-epilepsy-extrapyramidal syndrome3 tests
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3 tests
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2 tests
Intellectual disability-hypotonic facies syndrome, X-linked, 18 tests
Intellectual disability-severe speech delay-mild dysmorphism syndrome2 tests
Interleukin 6, serum level of, quantitative trait locus4 tests
Interstitial lung disease 211 tests
Interstitial lung disease due to ABCA3 deficiency5 tests
Intervertebral disc disorder5 tests
Intestinal hypomagnesemia 14 tests
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency3 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked9 tests
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency7 tests
Iodotyrosyl coupling defect1 test
Irido-corneo-trabecular dysgenesis6 tests
Iron-refractory iron deficiency anemia1 test
Ischemic stroke4 tests
Isolated congenital digital clubbing1 test
Isolated congenital megalocornea1 test
Isolated coronal synostosis1 test
Isolated cryptophthalmia6 tests
Isolated focal cortical dysplasia type II13 tests
Isolated focal non-epidermolytic palmoplantar keratoderma2 tests
Isolated growth hormone deficiency type IB1 test
Isolated growth hormone deficiency, type 41 test
Isolated lutropin deficiency1 test
Isolated microphthalmia 22 tests
Isolated microphthalmia 31 test
Isolated microphthalmia 42 tests
Isolated microphthalmia 53 tests
Isolated microphthalmia 62 tests
Isolated microphthalmia 81 test
Isolated neonatal sclerosing cholangitis7 tests
Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
Isolated optic nerve hypoplasia6 tests
Isolated sedoheptulokinase deficiency2 tests
Isolated thyroid-stimulating hormone deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency8 tests
Jaberi-Elahi syndrome3 tests
Jackson-Weiss syndrome7 tests
Jalili syndrome1 test
Jawad syndrome2 tests
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 16 tests
Jervell and Lange-Nielsen syndrome 26 tests
Jeune thoracic dystrophy2 tests
Johanson-Blizzard syndrome3 tests
Joint laxity, short stature, and myopia1 test
Joubert syndrome 16 tests
Joubert syndrome 1013 tests
Joubert syndrome 136 tests
Joubert syndrome 146 tests
Joubert syndrome 155 tests
Joubert syndrome 165 tests
Joubert syndrome 177 tests
Joubert syndrome 186 tests
Joubert syndrome 211 tests
Joubert syndrome 205 tests
Joubert syndrome 218 tests
Joubert syndrome 225 tests
Joubert syndrome 237 tests
Joubert syndrome 244 tests
Joubert syndrome 254 tests
Joubert syndrome 273 tests
Joubert syndrome 288 tests
Joubert syndrome 312 tests
Joubert syndrome 301 test
Joubert syndrome 313 tests
Joubert syndrome 321 test
Joubert syndrome 351 test
Joubert syndrome 382 tests
Joubert syndrome 401 test
Joubert syndrome 516 tests
Joubert syndrome 611 tests
Joubert syndrome 710 tests
Joubert syndrome 85 tests
Joubert syndrome 912 tests
Joubert syndrome with renal defect12 tests
Juberg-Hayward syndrome3 tests
Junctional epidermolysis bullosa gravis of Herlitz2 tests
Junctional epidermolysis bullosa with pyloric atresia8 tests
Junctional epidermolysis bullosa, non-Herlitz type5 tests
Juvenile (Subacute) Hexosaminidase A Deficiency1 test
Juvenile amyotrophic lateral sclerosis1 test
Juvenile myelomonocytic leukemia18 tests
Juvenile nephropathic cystinosis10 tests
Juvenile onset Parkinson disease 19A2 tests
Juvenile polyposis syndrome4 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome14 tests
Juvenile primary lateral sclerosis4 tests
Juvenile retinoschisis4 tests
Kabuki syndrome 111 tests
Kabuki syndrome 210 tests
Kahrizi syndrome4 tests
Kartagener syndrome6 tests
Karyomegalic interstitial nephritis2 tests
KBG syndrome4 tests
Kennedy disease2 tests
Keppen-Lubinsky syndrome1 test
Keratitis fugax hereditaria6 tests
Keratoconus 12 tests
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive1 test
Keratosis follicularis1 test
Keratosis follicularis spinulosa decalvans, X-linked4 tests
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome6 tests
Keratosis palmoplantaris striata 210 tests
Keratosis palmoplantaris striata 32 tests
Ketoacidosis due to monocarboxylate transporter-1 deficiency5 tests
Keutel syndrome3 tests
Kilquist syndrome2 tests
Kindler syndrome3 tests
King Denborough syndrome4 tests
Kleefstra syndrome 16 tests
Kleefstra syndrome 21 test
Klinefelter syndrome2 tests
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome5 tests
Klippel-Feil syndrome 1, autosomal dominant2 tests
Klippel-Feil syndrome 2, autosomal recessive2 tests
Kniest dysplasia5 tests
Knobloch syndrome3 tests
Knobloch syndrome 11 test
Knuckle pads, deafness AND leukonychia syndrome6 tests
Koolen-de Vries syndrome4 tests
Kostmann syndrome6 tests
Krabbe disease due to saposin A deficiency6 tests
Kufor-Rakeb syndrome10 tests
Kugelberg-Welander disease8 tests
Kuru, susceptibility to2 tests
Kury-Isidor syndrome2 tests
L-2-hydroxyglutaric aciduria5 tests
L-ferritin deficiency5 tests
LADD syndrome 11 test
Lafora disease2 tests
LAMB2-related infantile-onset nephrotic syndrome3 tests
Landau-Kleffner syndrome2 tests
Langer-Giedion syndrome1 test
Langereis blood group1 test
Large congenital melanocytic nevus7 tests
Laron-type isolated somatotropin defect3 tests
Larsen syndrome2 tests
Larsen-like syndrome, B3GAT3 type5 tests
Laryngo-onycho-cutaneous syndrome2 tests
Late-onset retinal degeneration2 tests
Lateral meningocele syndrome1 test
Lathosterolosis2 tests
Lattice corneal dystrophy Type I1 test
Lattice corneal dystrophy Type III1 test
Laurence-Moon syndrome3 tests
Laurin-Sandrow syndrome1 test
Lazy leukocyte syndrome3 tests
Leber congenital amaurosis1 test
Leber congenital amaurosis 13 tests
Leber congenital amaurosis 1014 tests
Leber congenital amaurosis 112 tests
Leber congenital amaurosis 121 test
Leber congenital amaurosis 133 tests
Leber congenital amaurosis 142 tests
Leber congenital amaurosis 152 tests
Leber congenital amaurosis 161 test
Leber congenital amaurosis 172 tests
Leber congenital amaurosis 25 tests
Leber congenital amaurosis 31 test
Leber congenital amaurosis 42 tests
Leber congenital amaurosis 52 tests
Leber congenital amaurosis 62 tests
Leber congenital amaurosis 72 tests
Leber congenital amaurosis 83 tests
Leber congenital amaurosis 92 tests
Left ventricular noncompaction 107 tests
Legg-Calve-Perthes disease5 tests
Legius syndrome5 tests
Leigh syndrome5 tests
Lenz-Majewski hyperostosis syndrome2 tests
LEOPARD syndrome 110 tests
LEOPARD syndrome 28 tests
LEOPARD syndrome 37 tests
Leprechaunism syndrome1 test
Lesch-Nyhan syndrome7 tests
Lethal acantholytic epidermolysis bullosa10 tests
Lethal arthrogryposis-anterior horn cell disease syndrome1 test
Lethal congenital contracture syndrome 11 test
Lethal congenital contracture syndrome 71 test
Lethal congenital glycogen storage disease of heart8 tests
Lethal Kniest-like syndrome1 test
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1 test
Lethal multiple pterygium syndrome4 tests
Lethal osteosclerotic bone dysplasia3 tests
Lethal polymalformative syndrome, Boissel type1 test
Lethal tight skin contracture syndrome16 tests
Leucine-induced hypoglycemia5 tests
Leukocyte adhesion deficiency 16 tests
Leukocyte adhesion deficiency 34 tests
Leukocyte adhesion deficiency type II5 tests
Leukodystrophy and acquired microcephaly with or without dystonia;1 test
Leukodystrophy, hypomyelinating, 141 test
Leukodystrophy, hypomyelinating, 161 test
Leukodystrophy, hypomyelinating, 171 test
Leukodystrophy, hypomyelinating, 181 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3 tests
Leukoencephalopathy with calcifications and cysts1 test
Leukoencephalopathy with mild cerebellar ataxia and white matter edema3 tests
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2 tests
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome2 tests
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome1 test
Leukoencephalopathy, progressive, with ovarian failure2 tests
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome5 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
Levy-Hollister syndrome3 tests
Lewy body dementia6 tests
Leydig cell agenesis1 test
Li-Fraumeni syndrome17 tests
Li-Fraumeni syndrome 130 tests
Li-Fraumeni syndrome 212 tests
Liang-Wang syndrome5 tests
Liberfarb syndrome1 test
Lichtenstein-Knorr syndrome1 test
Liddle syndrome 12 tests
Liddle syndrome 22 tests
Liddle syndrome 32 tests
Limb-girdle muscular dystrophy due to POMK deficiency9 tests
Limb-mammary syndrome7 tests
Linear nevus sebaceous syndrome9 tests
Linear skin defects with multiple congenital anomalies 15 tests
Linear skin defects with multiple congenital anomalies 22 tests
Linear skin defects with multiple congenital anomalies 34 tests
Lipase deficiency, combined1 test
Lipoic acid synthetase deficiency8 tests
Lipoyl transferase 1 deficiency6 tests
Lissencephaly 41 test
Lissencephaly 7 with cerebellar hypoplasia1 test
Lissencephaly 82 tests
Lissencephaly 9 with complex brainstem malformation1 test
Lissencephaly due to LIS1 mutation4 tests
Lissencephaly due to TUBA1A mutation3 tests
Lissencephaly type 1 due to doublecortin gene mutation2 tests
Lissencephaly type 31 test
Loeys-Dietz syndrome 111 tests
Loeys-Dietz syndrome 211 tests
Loeys-Dietz syndrome 45 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency11 tests
Long QT syndrome1 test
Long QT syndrome 17 tests
Long QT syndrome 131 test
Long QT syndrome 145 tests
Long QT syndrome 155 tests
Long QT syndrome 164 tests
Long QT syndrome 27 tests
Long QT syndrome 39 tests
Long QT syndrome 56 tests
Long QT syndrome 63 tests
Long qt syndrome 88 tests
Long QT syndrome 98 tests
Low phospholipid associated cholelithiasis3 tests
Lowe syndrome12 tests
Lower motor neuron syndrome with late-adult onset7 tests
Lower urinary tract obstruction, congenital2 tests
Lowry-Wood syndrome5 tests
Lucey-Driscoll syndrome2 tests
Lung cancer12 tests
Lung carcinoma2 tests
Lung disease, immunodeficiency, and chromosome breakage syndrome;5 tests
Luscan-Lumish syndrome3 tests
Lymphangiomyomatosis11 tests
Lymphatic malformation 32 tests
Lymphatic malformation 62 tests
Lymphatic malformation 71 test
Lymphoma, non-Hodgkin, familial8 tests
Lymphoproliferative syndrome 17 tests
Lymphoproliferative syndrome 28 tests
Lynch syndrome14 tests
Lynch syndrome 124 tests
Lynch syndrome 417 tests
Lynch syndrome 517 tests
Lynch syndrome 818 tests
Lysinuric protein intolerance12 tests
Lysosomal acid lipase deficiency11 tests
Macrocephaly1 test
Macrocephaly, dysmorphic facies, and psychomotor retardation2 tests
Macrocephaly-autism syndrome13 tests
Macrocephaly-developmental delay syndrome2 tests
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome5 tests
Macrocephaly/megalencephaly syndrome, autosomal recessive2 tests
Macroglobulinemia, Waldenstrom, 12 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss6 tests
Macrothrombocytopenia, isolated, 1, autosomal dominant2 tests
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6 tests
Macular corneal dystrophy4 tests
Macular degeneration, age-related, 33 tests
Macular degeneration, early-onset2 tests
Macular degeneration, X-linked atrophic5 tests
Macular dystrophy with central cone involvement12 tests
Majeed syndrome7 tests
Malan overgrowth syndrome3 tests
Malaria, susceptibility to15 tests
Malignant hyperthermia, susceptibility to, 110 tests
Malignant hyperthermia, susceptibility to, 59 tests
Malignant melanoma of skin2 tests
Malignant rhabdoid tumor, somatic1 test
Malignant tumor of esophagus15 tests
Malignant tumor of prostate17 tests
Malignant tumor of testis2 tests
Malignant tumor of urinary bladder18 tests
Mandibular hypoplasia-deafness-progeroid syndrome7 tests
Mandibuloacral dysplasia with type A lipodystrophy20 tests
Mandibuloacral dysplasia with type B lipodystrophy2 tests
Mandibulofacial dysostosis with alopecia2 tests
Mandibulofacial dysostosis-microcephaly syndrome3 tests
Maple syrup urine disease13 tests
Maple syrup urine disease, mild variant5 tests
Marden-Walker syndrome1 test
Marfan syndrome9 tests
Marinesco-Sjögren syndrome4 tests
Marshall syndrome5 tests
Marshall-Smith syndrome3 tests
Martsolf syndrome1 test
Martsolf syndrome 14 tests
Martsolf syndrome 23 tests
MASA syndrome7 tests
MASS syndrome8 tests
Mast syndrome2 tests
Mastocytosis1 test
Matthew-Wood syndrome1 test
Maturity-onset diabetes of the young type 12 tests
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 133 tests
Maturity-onset diabetes of the young type 141 test
Maturity-onset diabetes of the young type 22 tests
Maturity-onset diabetes of the young type 37 tests
Maturity-onset diabetes of the young type 42 tests
Maturity-onset diabetes of the young type 62 tests
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 91 test
McCune-Albright syndrome10 tests
McKusick-Kaufman syndrome8 tests
Meacham syndrome10 tests
Meckel syndrome 132 tests
Meckel syndrome, type 111 tests
Meckel syndrome, type 104 tests
Meckel syndrome, type 115 tests
Meckel syndrome, type 211 tests
Meckel syndrome, type 311 tests
Meckel syndrome, type 416 tests
Meckel syndrome, type 59 tests
Meckel syndrome, type 612 tests
Meckel syndrome, type 86 tests
Meckel syndrome, type 95 tests
Meckel-Gruber syndrome3 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency12 tests
MEDNIK syndrome6 tests
Medulloblastoma21 tests
Meester-Loeys syndrome3 tests
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations2 tests
Megaconial type congenital muscular dystrophy4 tests
Megacystis-microcolon-intestinal hypoperistalsis syndrome 13 tests
Megacystis-microcolon-intestinal hypoperistalsis syndrome 24 tests
Megalencephalic leukoencephalopathy with subcortical cysts 15 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32 tests
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness8 tests
Megalocornea1 test
MEGF10-related myopathy3 tests
MEGF8-related Carpenter syndrome4 tests
Meier-Gorlin syndrome 12 tests
Meier-Gorlin syndrome 22 tests
Meier-Gorlin syndrome 32 tests
Meier-Gorlin syndrome 42 tests
Meier-Gorlin syndrome 52 tests
Meier-Gorlin syndrome 63 tests
Meier-Gorlin syndrome 72 tests
Meier-Gorlin syndrome 82 tests
Melanoma2 tests
Melanoma and neural system tumor syndrome7 tests
Melanoma, cutaneous malignant, susceptibility to, 110 tests
Melanoma, cutaneous malignant, susceptibility to, 27 tests
Melanoma, cutaneous malignant, susceptibility to, 35 tests
Melanoma, cutaneous malignant, susceptibility to, 87 tests
Melanoma, cutaneous malignant, susceptibility to, 912 tests
Melanoma, uveal, susceptibility to, 22 tests
Melanoma-pancreatic cancer syndrome8 tests
Melnick-Needles syndrome9 tests
Melorheostosis7 tests
MEND syndrome3 tests
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency6 tests
Menke-Hennekam syndrome 17 tests
Menke-Hennekam syndrome 24 tests
Menkes kinky-hair syndrome13 tests
Meretoja syndrome4 tests
Merosin deficient congenital muscular dystrophy8 tests
Mesoaxial synostotic syndactyly with phalangeal reduction1 test
Mesothelioma, malignant15 tests
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression7 tests
Metabolic myopathy due to lactate transporter defect5 tests
Metabolic syndrome X4 tests
Metachondromatosis9 tests
Metachromatic leukodystrophy13 tests
Metaphyseal anadysplasia 21 test
Metaphyseal chondrodysplasia, Jansen type3 tests
Metaphyseal chondrodysplasia, McKusick type9 tests
Metaphyseal chondrodysplasia, Schmid type1 test
Metaphyseal chondrodysplasia, Spahr type1 test
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome2 tests
Metaphyseal dysplasia without hypotrichosis9 tests
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome1 test
Metatropic dysplasia5 tests
Methemoglobinemia type 41 test
Methemoglobinemia, alpha type3 tests
Methemoglobinemia, beta-globin type3 tests
Methylcobalamin deficiency type cblE9 tests
Methylcobalamin deficiency type cblG10 tests
Methylcrotonyl-CoA carboxylase deficiency1 test
Methylmalonate semialdehyde dehydrogenase deficiency5 tests
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency9 tests
Methylmalonic acidemia due to transcobalamin receptor defect6 tests
Methylmalonic acidemia with homocystinuria, type cblJ8 tests
Methylmalonic acidemia with homocystinuria, type cblX8 tests
Methylmalonic aciduria and homocystinuria type cblD10 tests
Methylmalonic aciduria and homocystinuria type cblF10 tests
Methylmalonic aciduria, cblA type9 tests
Methylmalonic aciduria, cblB type9 tests
Mevalonic aciduria12 tests
MGAT2-congenital disorder of glycosylation2 tests
MHC class I deficiency3 tests
MHC class II deficiency5 tests
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant14 tests
Microcephalic osteodysplastic dysplasia, Saul-Wilson type2 tests
Microcephalic osteodysplastic primordial dwarfism type II3 tests
Microcephalic primordial dwarfism due to RTTN deficiency4 tests
Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
Microcephalic primordial dwarfism, Alazami type2 tests
Microcephaly 1, primary, autosomal recessive5 tests
Microcephaly 15, primary, autosomal recessive2 tests
Microcephaly 17, primary, autosomal recessive1 test
Microcephaly 19, primary, autosomal recessive2 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
Microcephaly 3, primary, autosomal recessive2 tests
Microcephaly 5, primary, autosomal recessive2 tests
Microcephaly 6, primary, autosomal recessive2 tests
Microcephaly 7, primary, autosomal recessive1 test
Microcephaly 8, primary, autosomal recessive2 tests
Microcephaly 9, primary, autosomal recessive3 tests
Microcephaly and chorioretinopathy 12 tests
Microcephaly and chorioretinopathy 23 tests
Microcephaly and chorioretinopathy 33 tests
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability2 tests
Microcephaly, epilepsy, and diabetes syndrome1 test
Microcephaly, epilepsy, and diabetes syndrome 13 tests
Microcephaly, growth deficiency, seizures, and brain malformations2 tests
Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
Microcephaly, normal intelligence and immunodeficiency10 tests
Microcephaly, seizures, and developmental delay3 tests
Microcephaly, short stature, and impaired glucose metabolism 13 tests
Microcephaly, short stature, and impaired glucose metabolism 21 test
Microcephaly, short stature, and limb abnormalities1 test
Microcephaly-capillary malformation syndrome3 tests
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome3 tests
Microcephaly-micromelia syndrome1 test
Microcephaly-thin corpus callosum-intellectual disability syndrome1 test
Microcornea-myopic chorioretinal atrophy2 tests
Microcytic anemia with liver iron overload1 test
Microphthalmia with brain and digit anomalies7 tests
Microphthalmia with limb anomalies2 tests
Microphthalmia, isolated, with coloboma 104 tests
Microphthalmia, isolated, with coloboma 32 tests
Microphthalmia, isolated, with coloboma 53 tests
Microphthalmia, isolated, with coloboma 62 tests
Microphthalmia, isolated, with coloboma 71 test
Microphthalmia, isolated, with coloboma 91 test
Microphthalmia, syndromic 16 tests
Microphthalmia, syndromic 111 test
Microphthalmia, syndromic 121 test
Microspherophakia2 tests
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma2 tests
Microvascular complications of diabetes, susceptibility to, 35 tests
Microvascular complications of diabetes, susceptibility to, 44 tests
Microvascular complications of diabetes, susceptibility to, 74 tests
Migraine with or without aura, susceptibility to, 12 tests
Migraine, familial hemiplegic, 16 tests
Migraine, familial hemiplegic, 23 tests
Migraine, familial hemiplegic, 34 tests
Miller syndrome2 tests
MIRAGE syndrome6 tests
Mirror movements 21 test
Mismatch repair cancer syndrome 124 tests
Mismatch repair cancer syndrome 210 tests
Mismatch repair cancer syndrome 310 tests
Mismatch repair cancer syndrome 410 tests
Mitchell syndrome7 tests
Mitochondrial complex 1 deficiency, nuclear type 102 tests
Mitochondrial complex 1 deficiency, nuclear type 112 tests
Mitochondrial complex 1 deficiency, nuclear type 122 tests
Mitochondrial complex 1 deficiency, nuclear type 132 tests
Mitochondrial complex 1 deficiency, nuclear type 142 tests
Mitochondrial complex 1 deficiency, nuclear type 151 test
Mitochondrial complex 1 deficiency, nuclear type 163 tests
Mitochondrial complex 1 deficiency, nuclear type 172 tests
Mitochondrial complex 1 deficiency, nuclear type 182 tests
Mitochondrial complex 1 deficiency, nuclear type 193 tests
Mitochondrial complex 1 deficiency, nuclear type 22 tests
Mitochondrial complex 1 deficiency, nuclear type 213 tests
Mitochondrial complex 1 deficiency, nuclear type 222 tests
Mitochondrial complex 1 deficiency, nuclear type 232 tests
Mitochondrial complex 1 deficiency, nuclear type 242 tests
Mitochondrial complex 1 deficiency, nuclear type 252 tests
Mitochondrial complex 1 deficiency, nuclear type 261 test
Mitochondrial complex 1 deficiency, nuclear type 272 tests
Mitochondrial complex 1 deficiency, nuclear type 281 test
Mitochondrial complex 1 deficiency, nuclear type 292 tests
Mitochondrial complex 1 deficiency, nuclear type 33 tests
Mitochondrial complex 1 deficiency, nuclear type 304 tests
Mitochondrial complex 1 deficiency, nuclear type 312 tests
Mitochondrial complex 1 deficiency, nuclear type 322 tests
Mitochondrial complex 1 deficiency, nuclear type 332 tests
Mitochondrial complex 1 deficiency, nuclear type 43 tests
Mitochondrial complex 1 deficiency, nuclear type 52 tests
Mitochondrial complex 1 deficiency, nuclear type 62 tests
Mitochondrial complex 1 deficiency, nuclear type 72 tests
Mitochondrial complex 1 deficiency, nuclear type 82 tests
Mitochondrial complex 1 deficiency, nuclear type 93 tests
Mitochondrial complex 2 deficiency, nuclear type 21 test
Mitochondrial complex 2 deficiency, nuclear type 36 tests
Mitochondrial complex 2 deficiency, nuclear type 46 tests
Mitochondrial complex 4 deficiency, nuclear type 103 tests
Mitochondrial complex 4 deficiency, nuclear type 114 tests
Mitochondrial complex 4 deficiency, nuclear type 123 tests
Mitochondrial complex 4 deficiency, nuclear type 141 test
Mitochondrial complex 4 deficiency, nuclear type 152 tests
Mitochondrial complex 4 deficiency, nuclear type 211 test
Mitochondrial complex 4 deficiency, nuclear type 33 tests
Mitochondrial complex 4 deficiency, nuclear type 41 test
Mitochondrial complex 4 deficiency, nuclear type 74 tests
Mitochondrial complex 4 deficiency, nuclear type 81 test
Mitochondrial complex I deficiency, nuclear type 13 tests
Mitochondrial complex II deficiency, nuclear type 111 tests
Mitochondrial complex III deficiency nuclear type 17 tests
Mitochondrial complex III deficiency nuclear type 23 tests
Mitochondrial complex III deficiency nuclear type 31 test
Mitochondrial complex III deficiency nuclear type 41 test
Mitochondrial complex III deficiency nuclear type 52 tests
Mitochondrial complex III deficiency nuclear type 62 tests
Mitochondrial complex III deficiency nuclear type 72 tests
Mitochondrial complex III deficiency nuclear type 83 tests
Mitochondrial complex III deficiency nuclear type 91 test
Mitochondrial complex IV deficiency, nuclear type 18 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 29 tests
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 13 tests
Mitochondrial DNA deletion syndrome with progressive myopathy5 tests
Mitochondrial DNA depletion syndrome 116 tests
Mitochondrial DNA depletion syndrome 113 tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant4 tests
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive4 tests
Mitochondrial DNA depletion syndrome 137 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)6 tests
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 16 (hepatic type)5 tests
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)3 tests
Mitochondrial DNA depletion syndrome 181 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)8 tests
Mitochondrial DNA depletion syndrome 4b16 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)8 tests
Mitochondrial DNA depletion syndrome 8a5 tests
Mitochondrial DNA depletion syndrome 98 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria11 tests
Mitochondrial DNA depletion syndrome, myopathic form10 tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency5 tests
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy2 tests
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome3 tests
Mitochondrial myopathy-lactic acidosis-deafness syndrome3 tests
Mitochondrial pyruvate carrier deficiency3 tests
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency5 tests
Mitochondrial trifunctional protein deficiency12 tests
Mitral valve prolapse, myxomatous 21 test
Miyoshi muscular dystrophy 16 tests
Miyoshi muscular dystrophy 37 tests
MOGS-congenital disorder of glycosylation5 tests
Monocytopenia with susceptibility to infections11 tests
Monosomy 211 test
Monosomy 7 myelodysplasia and leukemia syndrome 16 tests
Monosomy 7 myelodysplasia and leukemia syndrome 26 tests
MORM syndrome5 tests
Mowat-Wilson syndrome5 tests
Moyamoya disease 21 test
Moyamoya disease 56 tests
Moyamoya disease with early-onset achalasia1 test
MPDU1-congenital disorder of glycosylation2 tests
MPI-congenital disorder of glycosylation4 tests
Mucocutaneous ulceration, chronic4 tests
Mucolipidosis type II9 tests
Mucolipidosis type IV5 tests
Mucopolysaccharidosis type 66 tests
Mucopolysaccharidosis type 78 tests
Mucopolysaccharidosis, MPS-I-H/S10 tests
Mucopolysaccharidosis, MPS-I-S10 tests
Mucopolysaccharidosis, MPS-II11 tests
Mucopolysaccharidosis, MPS-III-A13 tests
Mucopolysaccharidosis, MPS-III-B13 tests
Mucopolysaccharidosis, MPS-III-C12 tests
Mucopolysaccharidosis, MPS-III-D12 tests
Mucopolysaccharidosis, MPS-IV-A6 tests
Mucopolysaccharidosis, MPS-IV-B11 tests
Mucopolysaccharidosis-plus syndrome4 tests
Mucosa-associated lymphoma3 tests
Muenke syndrome4 tests
Muir-Torré syndrome21 tests
Mulibrey nanism syndrome2 tests
Mullegama-Klein-Martinez syndrome4 tests
Mullerian aplasia and hyperandrogenism3 tests
Multicentric carpo-tarsal osteolysis with or without nephropathy2 tests
Multicentric osteolysis nodulosis arthropathy spectrum1 test
Multiple acyl-CoA dehydrogenase deficiency14 tests
Multiple carboxylase deficiency1 test
Multiple congenital anomalies1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 16 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 24 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 34 tests
Multiple congenital exostosis4 tests
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia2 tests
Multiple endocrine neoplasia type 45 tests
Multiple endocrine neoplasia, type 113 tests
Multiple endocrine neoplasia, type 25 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA11 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB11 tests
Multiple epiphyseal dysplasia type 11 test
Multiple epiphyseal dysplasia type 47 tests
Multiple epiphyseal dysplasia, Al-Gazali type8 tests
Multiple epiphyseal dysplasia, Beighton type5 tests
Multiple gastrointestinal atresias6 tests
Multiple mitochondrial dysfunctions syndrome 16 tests
Multiple mitochondrial dysfunctions syndrome 26 tests
Multiple mitochondrial dysfunctions syndrome 37 tests
Multiple mitochondrial dysfunctions syndrome 46 tests
Multiple mitochondrial dysfunctions syndrome 52 tests
Multiple mitochondrial dysfunctions syndrome 61 test
Multiple myeloma9 tests
Multiple sclerosis, susceptibility to, 54 tests
Multiple self-healing squamous epithelioma11 tests
Multiple sulfatase deficiency10 tests
Multiple synostoses syndrome 23 tests
Multiple synostoses syndrome 32 tests
Multiple synostoses syndrome 42 tests
Multiple system atrophy3 tests
Multiple system atrophy 1, susceptibility to7 tests
Multisystemic smooth muscle dysfunction syndrome6 tests
Mungan syndrome4 tests
Muscle AMP deaminase deficiency5 tests
Muscular dystrophy, congenital, with or without seizures1 test
Muscular dystrophy, limb-girdle, autosomal dominant 45 tests
Muscular dystrophy, limb-girdle, autosomal recessive 238 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 109 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 118 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 129 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 415 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 88 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A115 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A137 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A144 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A210 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A311 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A515 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A69 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A97 tests
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 157 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B110 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B144 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B210 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B311 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B415 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 88 tests
Muscular dystrophy-dystroglycanopathy type B515 tests
Muscular dystrophy-dystroglycanopathy type B69 tests
Mutilating keratoderma6 tests
Myasthenic syndrome, congenital, 1B, fast-channel3 tests
Myasthenic syndrome, congenital, 226 tests
Myasthenic syndrome, congenital, 23, presynaptic5 tests
Myasthenic syndrome, congenital, 25, presynaptic4 tests
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive1 test
Mycobacterium tuberculosis, susceptibility to3 tests
Myelodysplastic syndrome15 tests
Myeloproliferative disorder, chronic, with eosinophilia2 tests
MYH7-related skeletal myopathy10 tests
Myhre syndrome7 tests
Myocardial infarction 12 tests
Myocardial infarction, susceptibility to5 tests
Myoclonic dystonia 114 tests
Myoclonic dystonia 263 tests
Myoclonic-astatic epilepsy2 tests
Myoclonic-atonic epilepsy1 test
Myoclonus, familial, 24 tests
Myoclonus, intractable, neonatal6 tests
Myofibrillar myopathy 27 tests
Myofibrillar myopathy 34 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 511 tests
Myofibrillar myopathy 613 tests
Myofibrillar myopathy 83 tests
Myofibromatosis, infantile, 12 tests
Myofibromatosis, infantile, 21 test
Myoglobinuria, acute recurrent, autosomal recessive5 tests
Myopathy due to calsequestrin and SERCA1 protein overload3 tests
Myopathy with abnormal lipid metabolism8 tests
Myopathy, centronuclear, 23 tests
Myopathy, centronuclear, 53 tests
Myopathy, centronuclear, 6, with fiber-type disproportion4 tests
Myopathy, congenital, with structured cores and z-line abnormalities8 tests
Myopathy, distal, 6, adult-onset, autosomal dominant8 tests
Myopathy, distal, with rimmed vacuoles10 tests
Myopathy, epilepsy, and progressive cerebral atrophy4 tests
Myopathy, lactic acidosis, and sideroblastic anemia 16 tests
Myopathy, lactic acidosis, and sideroblastic anemia 26 tests
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy5 tests
Myopathy, myofibrillar, 9, with early respiratory failure13 tests
Myopathy, myosin storage, autosomal recessive10 tests
Myopathy, proximal, and ophthalmoplegia2 tests
Myopathy, reducing body, X-linked, childhood-onset10 tests
Myopathy, reducing body, X-linked, early-onset, severe10 tests
Myopathy, tubular aggregate, 19 tests
Myopathy, tubular aggregate, 26 tests
Myopia 69 tests
Myopia, high, with cataract and vitreoretinal degeneration1 test
Myosclerosis5 tests
Myosin storage myopathy10 tests
MYPN-related myopathy3 tests
NAD(P)HX dehydratase deficiency1 test
Naegeli-Franceschetti-Jadassohn syndrome2 tests
Nager syndrome2 tests
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome3 tests
Nail-patella syndrome5 tests
Nail-patella-like renal disease4 tests
Namaqualand hip dysplasia5 tests
Nance-Horan syndrome1 test
Nanophthalmos 23 tests
Nasopharyngeal carcinoma11 tests
Naxos disease9 tests
NDE1-related microhydranencephaly1 test
Nemaline myopathy 103 tests
Nemaline myopathy 26 tests
Nemaline myopathy 53 tests
Nemaline myopathy 61 test
Nemaline myopathy 73 tests
Nemaline myopathy 83 tests
Nemaline myopathy 91 test
Neonatal diabetes mellitus with congenital hypothyroidism3 tests
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome6 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome3 tests
Neonatal intrahepatic cholestasis due to citrin deficiency11 tests
Neonatal pseudo-hydrocephalic progeroid syndrome4 tests
Neonatal severe primary hyperparathyroidism10 tests
Neonatal-onset encephalopathy with rigidity and seizures3 tests
Neoplasm of lung1 test
Neoplasm of ovary15 tests
Neoplasm of stomach1 test
Nephroblastoma5 tests
Nephrogenic syndrome of inappropriate antidiuresis4 tests
Nephrolithiasis, calcium oxalate2 tests
Nephronophthisis2 tests
Nephronophthisis 111 tests
Nephronophthisis 1110 tests
Nephronophthisis 128 tests
Nephronophthisis 136 tests
Nephronophthisis 149 tests
Nephronophthisis 1510 tests
Nephronophthisis 165 tests
Nephronophthisis 186 tests
Nephronophthisis 197 tests
Nephronophthisis 203 tests
Nephronophthisis 39 tests
Nephronophthisis 47 tests
Nephronophthisis 75 tests
Nephronophthisis 81 test
Nephronophthisis 95 tests
Nephronophthisis-like nephropathy 15 tests
Nephronophthisis-like nephropathy 22 tests
Nephropathic cystinosis10 tests
Nephrotic syndrome 146 tests
Nephrotic syndrome 153 tests
Nephrotic syndrome 165 tests
Nephrotic syndrome, IIa 261 test
Nephrotic syndrome, type 103 tests
Nephrotic syndrome, type 113 tests
Nephrotic syndrome, type 123 tests
Nephrotic syndrome, type 133 tests
Nephrotic syndrome, type 173 tests
Nephrotic syndrome, type 182 tests
Nephrotic syndrome, type 193 tests
Nephrotic syndrome, type 26 tests
Nephrotic syndrome, type 202 tests
Nephrotic syndrome, type 33 tests
Nephrotic syndrome, type 410 tests
Nephrotic syndrome, type 63 tests
Nephrotic syndrome, type 83 tests
Nephrotic syndrome, type 96 tests
Netherton syndrome7 tests
Neu-Laxova syndrome 19 tests
Neu-Laxova syndrome 26 tests
Neural tube defects, folate-sensitive16 tests
Neuroblastoma4 tests
Neuroblastoma, susceptibility to, 24 tests
Neuroblastoma, susceptibility to, 34 tests
Neurocutaneous melanocytosis6 tests
Neurodegeneration with ataxia and late-onset optic atrophy7 tests
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset10 tests
Neurodegeneration with brain iron accumulation 2B10 tests
Neurodegeneration with brain iron accumulation 47 tests
Neurodegeneration with brain iron accumulation 59 tests
Neurodegeneration with brain iron accumulation 67 tests
Neurodegeneration with brain iron accumulation 74 tests
Neurodegeneration with brain iron accumulation 83 tests
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities1 test
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia2 tests
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity2 tests
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter3 tests
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies1 test
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures3 tests
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1 test
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies2 tests
Neurodevelopmental disorder with epilepsy and hemochromatosis1 test
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1 test
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures2 tests
Neurodevelopmental disorder with involuntary movements5 tests
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy2 tests
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination1 test
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies2 tests
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features3 tests
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures3 tests
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart3 tests
Neurodevelopmental disorder with or without autism or seizures1 test
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive4 tests
Neurodevelopmental disorder with poor language and loss of hand skills3 tests
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies2 tests
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities2 tests
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1 test
Neurodevelopmental disorder with visual defects and brain anomalies5 tests
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures3 tests
Neuroendocrine neoplasm2 tests
Neuroferritinopathy5 tests
Neurofibromatosis, familial spinal15 tests
Neurofibromatosis, type 120 tests
Neurofibromatosis, type 29 tests
Neurofibromatosis-Noonan syndrome15 tests
Neurogenic scapuloperoneal syndrome, Kaeser type13 tests
Neurohypophyseal diabetes insipidus2 tests
Neuronal ceroid lipofuscinosis 110 tests
Neuronal ceroid lipofuscinosis 109 tests
Neuronal ceroid lipofuscinosis 113 tests
Neuronal ceroid lipofuscinosis 24 tests
Neuronal ceroid lipofuscinosis 314 tests
Neuronal ceroid lipofuscinosis 511 tests
Neuronal ceroid lipofuscinosis 712 tests
Neuronal ceroid lipofuscinosis 89 tests
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant9 tests
Neuronopathy, distal hereditary motor, autosomal dominant 85 tests
Neuronopathy, distal hereditary motor, autosomal recessive 44 tests
Neuronopathy, distal hereditary motor, autosomal recessive 53 tests
Neuronopathy, distal hereditary motor, type 2A3 tests
Neuronopathy, distal hereditary motor, type 2B3 tests
Neuronopathy, distal hereditary motor, type 2D2 tests
Neuronopathy, distal hereditary motor, type 5A6 tests
Neuronopathy, distal hereditary motor, type 5B5 tests
Neuronopathy, distal hereditary motor, type 5C1 test
Neuronopathy, distal hereditary motor, type 7A4 tests
Neuronopathy, distal hereditary motor, type 7B7 tests
Neuropathy, congenital hypomyelinating, 24 tests
Neuropathy, congenital hypomyelinating, 31 test
Neuropathy, hereditary motor and sensory, type 6B4 tests
Neuropathy, hereditary sensory and autonomic, type 1A2 tests
Neuropathy, hereditary sensory and autonomic, type 1C2 tests
Neuropathy, hereditary sensory and autonomic, type 2A11 tests
Neuropathy, hereditary sensory and autonomic, type 2B2 tests
Neuropathy, hereditary sensory, type 1D4 tests
Neuropathy, hereditary sensory, type 1F2 tests
Neuropathy, hereditary sensory, type 2C9 tests
Neutral 1 amino acid transport defect6 tests
Neutral lipid storage myopathy5 tests
Neutropenia, severe congenital, 1, autosomal dominant8 tests
Neutropenia, severe congenital, 2, autosomal dominant5 tests
Neutropenia, severe congenital, 8, autosomal dominant5 tests
Neutrophil immunodeficiency syndrome7 tests
Newfoundland cone-rod dystrophy4 tests
Nicolaides-Baraitser syndrome3 tests
Niemann-Pick disease, type A9 tests
Niemann-Pick disease, type B8 tests
Niemann-Pick disease, type C1 test
Niemann-Pick disease, type C114 tests
Niemann-Pick disease, type C213 tests
Nifedipine response1 test
Night blindness, congenital stationary, type1i3 tests
Nijmegen breakage syndrome-like disorder2 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities4 tests
Non-ketotic hyperglycinemia12 tests
Nonarteritic anterior ischemic optic neuropathy, susceptibility to2 tests
Nonimmune chronic idiopathic neutropenia of adults5 tests
Nonpapillary renal cell carcinoma19 tests
Nonsyndromic congenital nail disorder 86 tests
Nonsyndromic genetic hearing loss1 test
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
Noonan syndrome1 test
Noonan syndrome 110 tests
Noonan syndrome 107 tests
Noonan syndrome 113 tests
Noonan syndrome 121 test
Noonan syndrome 24 tests
Noonan syndrome 38 tests
Noonan syndrome 48 tests
Noonan syndrome 58 tests
Noonan syndrome 67 tests
Noonan syndrome 77 tests
Noonan syndrome 87 tests
Noonan syndrome 95 tests
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair 19 tests
Noonan syndrome-like disorder with loose anagen hair 24 tests
Norman-Roberts syndrome3 tests
Normophosphatemic familial tumoral calcinosis6 tests
Norum disease4 tests
NPHP3-related Meckel-like syndrome10 tests
Nuclear pulverulent cataract1 test
Nystagmus 1, congenital, X-linked4 tests
Nystagmus 6, congenital, X-linked3 tests
O'Donnell-Luria-Rodan syndrome3 tests
Obesity7 tests
OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
Obesity due to CEP19 deficiency5 tests
Obesity due to congenital leptin deficiency2 tests
Obesity due to leptin receptor gene deficiency2 tests
Obesity due to pro-opiomelanocortin deficiency3 tests
Obesity due to prohormone convertase I deficiency3 tests
Obesity, hyperphagia, and developmental delay3 tests
Occipital pachygyria and polymicrogyria1 test
Occult macular dystrophy2 tests
Ocular albinism, type I3 tests
Ocular albinism, type II2 tests
Ocular cystinosis10 tests
Oculoauricular syndrome2 tests
Oculocerebrodental syndrome2 tests
Oculocerebrofacial syndrome, Kaufman type4 tests
Oculocutaneous albinism type 1B6 tests
Oculocutaneous albinism type 34 tests
Oculocutaneous albinism type 44 tests
Oculocutaneous albinism type 61 test
Oculocutaneous albinism type 71 test
Oculodentodigital dysplasia10 tests
Oculodentodigital dysplasia, autosomal recessive10 tests
Oculofaciocardiodental syndrome5 tests
Oculomaxillofacial dysostosis1 test
Oculootoradial syndrome3 tests
Oculotrichoanal syndrome4 tests
Odonto-onycho-dermal dysplasia2 tests
Odontochondrodysplasia 13 tests
Ogden syndrome3 tests
Oguchi disease1 test
Oguchi disease-11 test
Olanzapine response1 test
Oligodontia-cancer predisposition syndrome10 tests
Olmsted syndrome 12 tests
Olmsted syndrome, X-linked4 tests
Omeprazole response1 test
Oocyte/zygote/embryo maturation arrest 171 test
Opsismodysplasia2 tests
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
Optic atrophy 112 tests
Optic atrophy 122 tests
Optic atrophy 39 tests
Optic atrophy 55 tests
Optic atrophy 94 tests
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy6 tests
Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive5 tests
Ornithine aminotransferase deficiency8 tests
Ornithine carbamoyltransferase deficiency17 tests
Orofacial cleft 117 tests
Orofacial cleft 51 test
Orofacial cleft 6, susceptibility to1 test
Orofacial cleft 87 tests
Orofacial-digital syndrome IV7 tests
Orofaciodigital syndrome 162 tests
Orofaciodigital syndrome 171 test
Orofaciodigital syndrome 181 test
Orofaciodigital syndrome I12 tests
Orofaciodigital syndrome type 143 tests
Orofaciodigital syndrome type 67 tests
Orofaciodigital syndrome V1 test
Orofaciodigital syndrome XV2 tests
Orotic aciduria1 test
Orthostatic hypotension 16 tests
Osteoarthritis susceptibility 53 tests
Osteocraniostenosis4 tests
Osteodysplastic primordial dwarfism, type 15 tests
Osteofibrous dysplasia3 tests
Osteogenesis imperfecta type 102 tests
Osteogenesis imperfecta type 113 tests
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 133 tests
Osteogenesis imperfecta type 152 tests
Osteogenesis imperfecta type 162 tests
Osteogenesis imperfecta type 173 tests
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 62 tests
Osteogenesis imperfecta type 75 tests
Osteogenesis imperfecta type 85 tests
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I4 tests
Osteogenesis imperfecta type III4 tests
Osteogenesis imperfecta with normal sclerae, dominant form4 tests
Osteogenesis imperfecta, perinatal lethal4 tests
Osteogenesis imperfecta, type 194 tests
Osteoglophonic dysplasia6 tests
Osteopathia striata with cranial sclerosis2 tests
Osteopetrosis with renal tubular acidosis6 tests
Osteoporosis2 tests
Osteoporosis with pseudoglioma6 tests
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO2 tests
Otitis media, susceptibility to1 test
Oto-palato-digital syndrome, type I9 tests
Oto-palato-digital syndrome, type II9 tests
Otofaciocervical syndrome 14 tests
Otofaciocervical syndrome 24 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant6 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive6 tests
OVARIAN CANCER, EPITHELIAL, SOMATIC1 test
Ovarian dysgenesis 31 test
Ovarian dysgenesis 63 tests
Ovarian dysgenesis 72 tests
Ovarian dysgenesis 81 test
Overhydrated hereditary stomatocytosis2 tests
Oxoglutaricaciduria2 tests
Oxycodone response1 test
p phenotype2 tests
Pachyonychia congenita 11 test
Pachyonychia congenita 22 tests
Pachyonychia congenita 31 test
Pachyonychia congenita 41 test
Paget disease of bone 2, early-onset5 tests
Paget disease of bone 310 tests
Paget disease of bone 61 test
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome2 tests
Pallister-Hall syndrome5 tests
Palmoplantar keratoderma i, striate, focal, or diffuse5 tests
Palmoplantar keratoderma, Bothnian type2 tests
Palmoplantar keratoderma, Nagashima type2 tests
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
Palmoplantar keratoderma, punctate type 1A1 test
Palmoplantar keratoderma-deafness syndrome6 tests
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome2 tests
Pancreatic agenesis 12 tests
Pancreatic agenesis 23 tests
Pancreatic cancer, susceptibility to, 213 tests
Pancreatic cancer, susceptibility to, 313 tests
Pancreatic cancer, susceptibility to, 411 tests
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome2 tests
Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
Pancreatic triacylglycerol lipase deficiency2 tests
Pancytopenia due to IKZF1 mutations6 tests
Pancytopenia-developmental delay syndrome5 tests
Panhypopituitarism, X-linked2 tests
Papillary renal cell carcinoma type 16 tests
Papillary thyroid carcinoma3 tests
Papillon-Lefèvre syndrome6 tests
Paragangliomas 113 tests
Paragangliomas 27 tests
Paragangliomas 313 tests
Paragangliomas 414 tests
Paragangliomas 514 tests
Paramyotonia congenita of Von Eulenburg8 tests
Parastremmatic dwarfism5 tests
Parathyroid carcinoma9 tests
Parietal foramina 11 test
Parietal foramina 21 test
Parietal foramina with cleidocranial dysplasia1 test
Parkinson disease 13, autosomal dominant, susceptibility to8 tests
Parkinson disease 171 test
Parkinson disease 22, autosomal dominant1 test
Parkinson disease 24, autosomal dominant, susceptibility to3 tests
Parkinson disease 5, autosomal dominant, susceptibility to2 tests
Parkinson disease, late-onset8 tests
Parkinsonian-pyramidal syndrome2 tests
Parkinsonism-dystonia, infantile, 24 tests
Paroxetine response1 test
Paroxysmal extreme pain disorder3 tests
Paroxysmal nocturnal hemoglobinuria 15 tests
Paroxysmal nocturnal hemoglobinuria 24 tests
Paroxysmal nonkinesigenic dyskinesia 14 tests
Partial androgen insensitivity syndrome2 tests
Partial deletion of the long arm of chromosome 111 test
Partial deletion of the long arm of chromosome 151 test
Partial deletion of the long arm of chromosome 21 test
Partial deletion of the long arm of chromosome 41 test
Partial deletion of the long arm of chromosome 61 test
Partial deletion of the long arm of chromosome 81 test
Partial deletion of the short arm of chromosome 11 test
Partial deletion of the short arm of chromosome 111 test
Partial duplication of the long arm of chromosome 121 test
Partial duplication of the long arm of chromosome 151 test
Partial duplication of the long arm of chromosome 191 test
Partial duplication of the long arm of chromosome 21 test
Partial duplication of the long arm of chromosome 31 test
Partial duplication of the long arm of chromosome 41 test
Partial duplication of the long arm of chromosome 71 test
Partial duplication of the short arm of chromosome 161 test
Partial duplication of the short arm of chromosome 21 test
Partial duplication of the short arm of chromosome 61 test
Partial duplication of the short arm of chromosome 71 test
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency7 tests
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome3 tests
Partial monosomy of the long arm of chromosome 101 test
Partial trisomy of the long arm of chromosome 161 test
Partial trisomy of the long arm of chromosome 181 test
Partial trisomy of the long arm of chromosome 51 test
Partington syndrome9 tests
Patent ductus arteriosus 22 tests
Patterned macular dystrophy 12 tests
Patterned macular dystrophy 24 tests
Patterned macular dystrophy 31 test
PCWH syndrome4 tests
Peeling skin syndrome 13 tests
Peeling skin syndrome 52 tests
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome2 tests
PEHO-like syndrome2 tests
Pelger-Huët anomaly1 test
Pelizaeus-Merzbacher disease6 tests
Pelviscapular dysplasia2 tests
Pendred syndrome12 tests
PERCHING syndrome2 tests
Periodic fever-infantile enterocolitis-autoinflammatory syndrome7 tests
Periodontitis, aggressive 16 tests
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3 tests
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive2 tests
Periventricular nodular heterotopia 61 test
Periventricular nodular heterotopia 72 tests
Perlman syndrome7 tests
Permanent neonatal diabetes mellitus 12 tests
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome3 tests
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 10A (Zellweger)9 tests
Peroxisome biogenesis disorder 10B8 tests
Peroxisome biogenesis disorder 11A (Zellweger)10 tests
Peroxisome biogenesis disorder 11B9 tests
Peroxisome biogenesis disorder 12A (Zellweger)11 tests
Peroxisome biogenesis disorder 13A (Zellweger)11 tests
Peroxisome biogenesis disorder 14B9 tests
Peroxisome biogenesis disorder 1A (Zellweger)14 tests
Peroxisome biogenesis disorder 1B13 tests
Peroxisome biogenesis disorder 2A (Zellweger)13 tests
Peroxisome biogenesis disorder 2B12 tests
Peroxisome biogenesis disorder 3A (Zellweger)12 tests
Peroxisome biogenesis disorder 4A (Zellweger)17 tests
Peroxisome biogenesis disorder 4B16 tests
Peroxisome biogenesis disorder 5A (Zellweger)12 tests
Peroxisome biogenesis disorder 5B11 tests
Peroxisome biogenesis disorder 6A (Zellweger)12 tests
Peroxisome biogenesis disorder 6B11 tests
Peroxisome biogenesis disorder 7A (Zellweger)12 tests
Peroxisome biogenesis disorder 7B11 tests
Peroxisome biogenesis disorder 8A (Zellweger)12 tests
Peroxisome biogenesis disorder 8B11 tests
Peroxisome biogenesis disorder 9B12 tests
Peroxisome biogenesis disorder type 3B11 tests
Perrault syndrome 17 tests
Perrault syndrome 22 tests
Perrault syndrome 33 tests
Perrault syndrome 45 tests
Perrault syndrome 58 tests
Perry syndrome7 tests
Persistent fetal circulation syndrome1 test
Persistent hyperplastic primary vitreous, autosomal recessive2 tests
Persistent Mullerian duct syndrome1 test
Peters plus syndrome4 tests
Pettigrew syndrome2 tests
Peutz-Jeghers syndrome20 tests
Pfeiffer syndrome7 tests
PGM1-congenital disorder of glycosylation8 tests
PHARC syndrome3 tests
Phenylketonuria11 tests
Pheochromocytoma18 tests
PHGDH deficiency10 tests
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome3 tests
Phosphate transport defect16 tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic4 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
Phosphoribosylpyrophosphate synthetase superactivity10 tests
Phytanic acid storage disease14 tests
Pick disease4 tests
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome6 tests
Piebaldism6 tests
Pierpont syndrome3 tests
Pierson syndrome3 tests
Pigmentary pallidal degeneration10 tests
Pigmentary retinal dystrophy4 tests
Pigmented nodular adrenocortical disease, primary, 17 tests
Pigmented nodular adrenocortical disease, primary, 31 test
Pigmented paravenous retinochoroidal atrophy3 tests
Pili torti-deafness syndrome7 tests
Pilomatrixoma4 tests
Pitt-Hopkins syndrome5 tests
Pitt-Hopkins-like syndrome 24 tests
Pituitary adenoma 3, multiple types9 tests
Pituitary adenoma 5, multiple types4 tests
Pituitary adenoma, growth hormone-secreting, 21 test
Pituitary dependent hypercortisolism3 tests
Pituitary hormone deficiency, combined, 11 test
Pituitary hormone deficiency, combined, 25 tests
Pituitary hormone deficiency, combined, 64 tests
Pityriasis rubra pilaris3 tests
Plasminogen deficiency, type I4 tests
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease7 tests
Platelet-type bleeding disorder 112 tests
Platelet-type bleeding disorder 152 tests
Platelet-type bleeding disorder 162 tests
Platelet-type bleeding disorder 182 tests
Platelet-type bleeding disorder 82 tests
Platyspondylic dysplasia, Torrance type5 tests
Pleuropulmonary blastoma10 tests
PMM2-congenital disorder of glycosylation13 tests
Poikiloderma with neutropenia5 tests
Polyagglutinable erythrocyte syndrome2 tests
Polycystic kidney disease 23 tests
Polycystic kidney disease 3 with or without polycystic liver disease5 tests
Polycystic kidney disease 48 tests
Polycystic kidney disease 53 tests
Polycystic kidney disease 6 with or without polycystic liver disease3 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 12 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 24 tests
Polycystic liver disease 14 tests
Polycystic liver disease 24 tests
Polycystic liver disease 3 with or without kidney cysts6 tests
Polycystic liver disease 4 with or without kidney cysts6 tests
Polydactyly of a triphalangeal thumb1 test
Polydactyly, postaxial, type A15 tests
Polyendocrine-polyneuropathy syndrome5 tests
Polyglandular autoimmune syndrome, type 17 tests
Polyglucosan body myopathy type 17 tests
Polyglucosan body myopathy type 25 tests
Polyhydramnios, megalencephaly, and symptomatic epilepsy3 tests
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome8 tests
Polymicrogyria, bilateral perisylvian, autosomal recessive3 tests
Polyposis syndrome, hereditary mixed, 29 tests
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal3 tests
Polysyndactyly 45 tests
Pontocerebellar hypoplasia type 101 test
Pontocerebellar hypoplasia type 1A4 tests
Pontocerebellar hypoplasia type 1B4 tests
Pontocerebellar hypoplasia type 2A2 tests
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2D3 tests
Pontocerebellar hypoplasia type 2E1 test
Pontocerebellar hypoplasia type 31 test
Pontocerebellar hypoplasia type 42 tests
Pontocerebellar hypoplasia type 52 tests
Pontocerebellar hypoplasia type 66 tests
Pontocerebellar hypoplasia type 73 tests
Pontocerebellar hypoplasia type 82 tests
Pontocerebellar hypoplasia type 93 tests
Pontocerebellar hypoplasia, type 127 tests
Pontocerebellar hypoplasia, type 1C1 test
Pontocerebellar hypoplasia, type 1D3 tests
Pontocerebellar hypoplasia, type 1E1 test
Porencephaly 24 tests
Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
Porokeratosis 3, disseminated superficial actinic type13 tests
Porphobilinogen synthase deficiency3 tests
Porphyria1 test
Portal hypertension, noncirrhotic3 tests
Portal hypertension, noncirrhotic, 15 tests
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome4 tests
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 22 tests
Posterior polymorphous corneal dystrophy 31 test
Postmenopausal osteoporosis7 tests
Potassium-aggravated myotonia8 tests
Potocki-Lupski syndrome4 tests
PPARG-related familial partial lipodystrophy2 tests
Prader-Willi syndrome2 tests
Predisposition to invasive fungal disease due to CARD9 deficiency2 tests
Pregnancy loss, recurrent, susceptibility to, 14 tests
Pregnancy loss, recurrent, susceptibility to, 24 tests
Premature ovarian failure 14 tests
Premature ovarian failure 114 tests
Premature ovarian failure 151 test
Premature ovarian failure 171 test
Premature ovarian failure 31 test
Premature ovarian failure 71 test
Preterm premature rupture of membranes2 tests
Pretibial dystrophic epidermolysis bullosa6 tests
Primary CD59 deficiency6 tests
Primary ciliary dyskinesia2 tests
Primary ciliary dyskinesia 105 tests
Primary ciliary dyskinesia 115 tests
Primary ciliary dyskinesia 125 tests
Primary ciliary dyskinesia 135 tests
Primary ciliary dyskinesia 146 tests
Primary ciliary dyskinesia 155 tests
Primary ciliary dyskinesia 165 tests
Primary ciliary dyskinesia 176 tests
Primary ciliary dyskinesia 185 tests
Primary ciliary dyskinesia 194 tests
Primary ciliary dyskinesia 25 tests
Primary ciliary dyskinesia 203 tests
Primary ciliary dyskinesia 215 tests
Primary ciliary dyskinesia 225 tests
Primary ciliary dyskinesia 233 tests
Primary ciliary dyskinesia 245 tests
Primary ciliary dyskinesia 255 tests
Primary ciliary dyskinesia 265 tests
Primary ciliary dyskinesia 275 tests
Primary ciliary dyskinesia 285 tests
Primary ciliary dyskinesia 295 tests
Primary ciliary dyskinesia 36 tests
Primary ciliary dyskinesia 303 tests
Primary ciliary dyskinesia 325 tests
Primary ciliary dyskinesia 335 tests
Primary ciliary dyskinesia 343 tests
Primary ciliary dyskinesia 64 tests
Primary ciliary dyskinesia 76 tests
Primary ciliary dyskinesia 96 tests
Primary coenzyme Q10 deficiency 87 tests
Primary erythromelalgia3 tests
Primary failure of tooth eruption3 tests
Primary familial polycythemia due to EPO receptor mutation3 tests
Primary hyperoxaluria1 test
Primary hyperoxaluria type 34 tests
Primary hyperoxaluria, type I6 tests
Primary hyperoxaluria, type II5 tests
Primary hypomagnesemia6 tests
Primary immunodeficiency syndrome due to p14 deficiency3 tests
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency4 tests
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection4 tests
Primary myelofibrosis6 tests
Primary open angle glaucoma2 tests
Primrose syndrome3 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome8 tests
Progressive bulbar palsy of childhood9 tests
Progressive demyelinating neuropathy with bilateral striatal necrosis7 tests
Progressive encephalopathy with leukodystrophy due to DECR deficiency5 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 116 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 24 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 38 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 45 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 55 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 116 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 23 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 310 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 48 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
Progressive familial heart block type IB2 tests
Progressive familial heart block, type 1A8 tests
Progressive familial intrahepatic cholestasis type 12 tests
Progressive familial intrahepatic cholestasis type 22 tests
Progressive familial intrahepatic cholestasis type 33 tests
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome6 tests
Progressive myoclonic epilepsy type 37 tests
Progressive myoclonic epilepsy type 67 tests
Progressive myoclonic epilepsy type 71 test
Progressive myositis ossificans3 tests
Progressive osseous heteroplasia9 tests
Progressive retinal dystrophy due to retinol transport defect4 tests
Progressive scapulohumeroperoneal distal myopathy3 tests
Progressive sclerosing poliodystrophy16 tests
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1 test
Progressive supranuclear palsy-parkinsonism syndrome3 tests
Prolidase deficiency4 tests
Proliferative vitreoretinopathy1 test
Proline dehydrogenase deficiency5 tests
Properdin deficiency, X-linked3 tests
Propionic acidemia15 tests
Prostate cancer, hereditary, 24 tests
Prostate cancer, hereditary, 93 tests
Proteasome-associated autoinflammatory syndrome 14 tests
Proteasome-associated autoinflammatory syndrome 26 tests
Proteasome-associated autoinflammatory syndrome 34 tests
Proteasome-associated autoinflammatory syndrome 43 tests
Protein-losing enteropathy6 tests
Proteinuria, chronic benign7 tests
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis6 tests
Proteus syndrome1 test
Proteus-like syndrome9 tests
Protoporphyria, erythropoietic, 14 tests
Protoporphyria, erythropoietic, 23 tests
Proximal myopathy with extrapyramidal signs7 tests
Proximal symphalangism 1A4 tests
Prune belly syndrome2 tests
PSAT deficiency7 tests
Pseudo von Willebrand disease2 tests
Pseudo-Hurler polydystrophy8 tests
Pseudo-TORCH syndrome 11 test
Pseudo-TORCH syndrome 34 tests
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
Pseudohyperaldosteronism type 22 tests
Pseudohypoaldosteronism type 2B2 tests
Pseudohypoaldosteronism type 2C4 tests
Pseudohypoaldosteronism type 2D2 tests
Pseudohypoaldosteronism type 2E3 tests
Pseudohypoaldosteronism, type IB2, autosomal recessive1 test
Pseudohypoaldosteronism, type IB3, autosomal recessive1 test
Pseudohypoparathyroidism1 test
Pseudohypoparathyroidism type 1B9 tests
Pseudohypoparathyroidism type 1C9 tests
Pseudohypoparathyroidism type I A9 tests
Pseudopseudohypoparathyroidism9 tests
Pseudoxanthoma elasticum, forme fruste3 tests
Psoriasis 13, susceptibility to2 tests
Psoriasis 23 tests
Psoriasis 7, susceptibility to2 tests
PTEN hamartoma tumor syndrome13 tests
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency10 tests
PULMONARY ALVEOLAR MICROLITHIASIS1 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 111 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 313 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 48 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 52 tests
Pulmonary hypertension, neonatal, susceptibility to11 tests
Pulmonary hypertension, primary, 13 tests
Pulmonary hypertension, primary, 23 tests
Pulmonary hypertension, primary, 33 tests
Pulmonary hypertension, primary, 41 test
Pulmonary venoocclusive disease 13 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome4 tests
Purine-nucleoside phosphorylase deficiency8 tests
PYCR1-related de Barsy syndrome2 tests
Pyknodysostosis5 tests
Pyle metaphyseal dysplasia2 tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome4 tests
Pyogenic bacterial infections due to MyD88 deficiency2 tests
Pyridoxal phosphate-responsive seizures8 tests
Pyridoxine-dependent epilepsy8 tests
Pyropoikilocytosis, hereditary2 tests
Pyruvate carboxylase deficiency9 tests
Pyruvate dehydrogenase E1-alpha deficiency9 tests
Pyruvate dehydrogenase E1-beta deficiency8 tests
Pyruvate dehydrogenase E2 deficiency6 tests
Pyruvate dehydrogenase E3 deficiency16 tests
Pyruvate dehydrogenase E3-binding protein deficiency7 tests
Pyruvate dehydrogenase phosphatase deficiency7 tests
Pyruvate kinase deficiency of red cells2 tests
Pyruvate kinase hyperactivity2 tests
Question mark ears, isolated1 test
RAB23-related Carpenter syndrome5 tests
Rabson-Mendenhall syndrome1 test
Radial aplasia-thrombocytopenia syndrome4 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 23 tests
Rafiq syndrome3 tests
Rajab interstitial lung disease with brain calcifications 11 test
Rapadilino syndrome7 tests
RAPH BLOOD GROUP SYSTEM5 tests
Rapp-Hodgkin ectodermal dysplasia syndrome7 tests
RASopathy3 tests
RCBTB1-related retinopathy1 test
Recessive dystrophic epidermolysis bullosa6 tests
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome9 tests
Recurrent Neisseria infections due to factor D deficiency3 tests
Regressive spondylometaphyseal dysplasia1 test
Reis-Bucklers' corneal dystrophy1 test
Renal carnitine transport defect14 tests
Renal coloboma syndrome7 tests
Renal cysts and diabetes syndrome9 tests
Renal dysplasia and retinal aplasia4 tests
Renal dysplasia, cystic, susceptibility to4 tests
Renal hamartoma1 test
Renal hypodysplasia/aplasia 12 tests
Renal hypodysplasia/aplasia 22 tests
Renal hypodysplasia/aplasia 32 tests
Renal hypomagnesemia 24 tests
Renal hypomagnesemia 45 tests
Renal hypomagnesemia 5 with ocular involvement6 tests
Renal hypomagnesemia 65 tests
Renal tubular acidosis with progressive nerve deafness6 tests
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss2 tests
Renal tubular acidosis, distal, 4, with hemolytic anemia6 tests
Renal tubular dysgenesis2 tests
Renal tubular dysgenesis of genetic origin3 tests
Renal-hepatic-pancreatic dysplasia 18 tests
Renal-hepatic-pancreatic dysplasia 25 tests
Renpenning syndrome1 test
Respiratory papillomatosis, juvenile recurrent, congenital4 tests
Restrictive dermopathy 24 tests
Reticular dysgenesis6 tests
Retinal arterial tortuosity14 tests
Retinal cone dystrophy 3A2 tests
Retinal cone dystrophy 42 tests
Retinal dystrophy and obesity1 test
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
Retinal dystrophy with leukodystrophy5 tests
Retinal dystrophy with or without macular staphyloma2 tests
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome2 tests
Retinal macular dystrophy type 22 tests
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations12 tests
Retinitis pigmentosa14 tests
Retinitis pigmentosa 11 test
Retinitis pigmentosa 102 tests
Retinitis pigmentosa 111 test
Retinitis pigmentosa 123 tests
Retinitis pigmentosa 132 tests
Retinitis pigmentosa 142 tests
Retinitis pigmentosa 171 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 193 tests
Retinitis pigmentosa 22 tests
Retinitis pigmentosa 205 tests
Retinitis pigmentosa 2310 tests
Retinitis pigmentosa 252 tests
Retinitis pigmentosa 263 tests
Retinitis pigmentosa 271 test
Retinitis pigmentosa 282 tests
Retinitis pigmentosa 35 tests
Retinitis pigmentosa 302 tests
Retinitis pigmentosa 311 test
Retinitis pigmentosa 321 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 362 tests
Retinitis pigmentosa 372 tests
Retinitis pigmentosa 381 test
Retinitis pigmentosa 396 tests
Retinitis pigmentosa 42 tests
Retinitis pigmentosa 402 tests
Retinitis pigmentosa 412 tests
Retinitis pigmentosa 422 tests
Retinitis pigmentosa 431 test
Retinitis pigmentosa 441 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 462 tests
Retinitis pigmentosa 472 tests
Retinitis pigmentosa 482 tests
Retinitis pigmentosa 491 test
Retinitis pigmentosa 502 tests
Retinitis pigmentosa 516 tests
Retinitis pigmentosa 541 test
Retinitis pigmentosa 557 tests
Retinitis pigmentosa 562 tests
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 598 tests
Retinitis pigmentosa 601 test
Retinitis pigmentosa 616 tests
Retinitis pigmentosa 622 tests
Retinitis pigmentosa 662 tests
Retinitis pigmentosa 671 test
Retinitis pigmentosa 681 test
Retinitis pigmentosa 691 test
Retinitis pigmentosa 72 tests
Retinitis pigmentosa 701 test
Retinitis pigmentosa 719 tests
Retinitis pigmentosa 721 test
Retinitis pigmentosa 7312 tests
Retinitis pigmentosa 749 tests
Retinitis pigmentosa 751 test
Retinitis pigmentosa 7611 tests
Retinitis pigmentosa 771 test
Retinitis pigmentosa 781 test
Retinitis pigmentosa 795 tests
Retinitis pigmentosa 804 tests
Retinitis pigmentosa 814 tests
Retinitis pigmentosa 831 test
Retinitis pigmentosa 841 test
Retinitis pigmentosa 851 test
Retinitis pigmentosa 861 test
Retinitis pigmentosa 87 with choroidal involvement5 tests
Retinitis pigmentosa 882 tests
Retinitis pigmentosa 934 tests
Retinitis pigmentosa and erythrocytic microcytosis8 tests
Retinitis pigmentosa with or without situs inversus1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness5 tests
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome3 tests
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
Retinoblastoma7 tests
Rett syndrome7 tests
Rett syndrome, congenital variant5 tests
Revesz syndrome8 tests
Reynolds syndrome1 test
RFT1-congenital disorder of glycosylation3 tests
Rh-null, regulator type2 tests
Rhabdoid tumor predisposition syndrome 111 tests
Rhabdoid tumor predisposition syndrome 214 tests
Rhabdomyosarcoma1 test
Rhabdomyosarcoma, embryonal, 213 tests
Rheumatoid arthritis8 tests
Rhizomelic chondrodysplasia punctata1 test
Rhizomelic chondrodysplasia punctata type 113 tests
Rhizomelic chondrodysplasia punctata type 22 tests
Rhizomelic chondrodysplasia punctata type 32 tests
Rhizomelic chondrodysplasia punctata type 512 tests
RHYNS syndrome9 tests
RIDDLE syndrome3 tests
Rieger anomaly1 test
Rienhoff syndrome5 tests
Right atrial isomerism2 tests
RIN2 syndrome4 tests
Ring dermoid of cornea4 tests
Rippling muscle disease 27 tests
Risperidone response1 test
Ritscher-Schinzel syndrome 12 tests
Roberts-SC phocomelia syndrome4 tests
Robinow syndrome, autosomal recessive 22 tests
Robinow-Sorauf syndrome1 test
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction1 test
Roifman syndrome5 tests
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome4 tests
Rothmund-Thomson syndrome1 test
Rothmund-Thomson syndrome type 24 tests
Roussy-Lévy syndrome4 tests
Rubinstein-Taybi syndrome due to CREBBP mutations8 tests
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency5 tests
Saethre-Chotzen syndrome4 tests
Saldino-Mainzer syndrome6 tests
Salla disease7 tests
Sandhoff disease11 tests
Sarcoma2 tests
Sarcotubular myopathy11 tests
Scalp-ear-nipple syndrome2 tests
Scapuloperoneal spinal muscular atrophy5 tests
Schaaf-Yang syndrome2 tests
SchC6pf-Schulz-Passarge syndrome2 tests
Schimke immuno-osseous dysplasia8 tests
Schinzel phocomelia syndrome1 test
Schinzel-Giedion syndrome4 tests
Schizencephaly3 tests
Schizophrenia10 tests
Schizophrenia 44 tests
Schneckenbecken dysplasia3 tests
Schnyder crystalline corneal dystrophy1 test
Schuurs-Hoeijmakers syndrome3 tests
Schwannomatosis 114 tests
Schwannomatosis 27 tests
Schwartz-Jampel syndrome type 11 test
Sclerosteosis 11 test
Sclerosteosis 25 tests
SCOTT SYNDROME2 tests
Seckel syndrome 13 tests
Seckel syndrome 102 tests
Seckel syndrome 22 tests
Seckel syndrome 42 tests
Seckel syndrome 53 tests
Seckel syndrome 62 tests
Seckel syndrome 72 tests
Seckel syndrome 85 tests
Seckel syndrome 91 test
Seizures, benign familial infantile, 24 tests
Seizures, benign familial infantile, 33 tests
Seizures, benign familial infantile, 54 tests
Seizures, benign familial neonatal, 13 tests
Seizures, benign familial neonatal, 21 test
Seizures-scoliosis-macrocephaly syndrome4 tests
Sengers syndrome5 tests
Senior-Loken syndrome 111 tests
Senior-Loken syndrome 47 tests
Senior-Loken syndrome 56 tests
Senior-Loken syndrome 615 tests
Senior-Loken syndrome 710 tests
Senior-Loken syndrome 88 tests
Senior-Loken syndrome 92 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis17 tests
Septo-optic dysplasia sequence5 tests
SERKAL syndrome3 tests
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome3 tests
Severe combined immunodeficiency due to CARD11 deficiency5 tests
Severe combined immunodeficiency due to CARMIL2 deficiency6 tests
Severe combined immunodeficiency due to CORO1A deficiency3 tests
Severe combined immunodeficiency due to CTPS1 deficiency4 tests
Severe combined immunodeficiency due to DCLRE1C deficiency8 tests
Severe combined immunodeficiency due to DNA-PKcs deficiency4 tests
Severe combined immunodeficiency due to IKK2 deficiency4 tests
Severe combined immunodeficiency due to LAT deficiency3 tests
Severe combined immunodeficiency due to LCK deficiency3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency12 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive8 tests
Severe congenital hypochromic anemia with ringed sideroblasts1 test
Severe dermatitis-multiple allergies-metabolic wasting syndrome5 tests
Severe early-childhood-onset retinal dystrophy3 tests
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1 test
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome3 tests
Severe intellectual disability-progressive spastic diplegia syndrome4 tests
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome6 tests
Severe myoclonic epilepsy in infancy4 tests
Severe neonatal-onset encephalopathy with microcephaly7 tests
Severe neurodegenerative syndrome with lipodystrophy7 tests
Severe X-linked mitochondrial encephalomyopathy6 tests
Severe X-linked myotubular myopathy5 tests
Shashi-Pena syndrome2 tests
Short QT syndrome1 test
Short QT syndrome type 17 tests
Short QT syndrome type 27 tests
Short QT syndrome type 39 tests
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans2 tests
Short stature due to growth hormone qualitative anomaly1 test
Short stature due to growth hormone secretagogue receptor deficiency1 test
Short stature due to partial GHR deficiency3 tests
Short stature with microcephaly and distinctive facies3 tests
Short stature with nonspecific skeletal abnormalities3 tests
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis2 tests
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies1 test
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11 test
Short stature, microcephaly, and endocrine dysfunction2 tests
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay4 tests
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome2 tests
Short stature-brachydactyly-obesity-global developmental delay syndrome2 tests
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome3 tests
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome6 tests
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
SHORT syndrome11 tests
Short-rib thoracic dysplasia 10 with or without polydactyly10 tests
Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
Short-rib thoracic dysplasia 13 with or without polydactyly5 tests
Short-rib thoracic dysplasia 14 with polydactyly8 tests
Short-rib thoracic dysplasia 15 with polydactyly1 test
Short-rib thoracic dysplasia 16 with or without polydactyly1 test
Short-rib thoracic dysplasia 18 with polydactyly4 tests
Short-rib thoracic dysplasia 19 with or without polydactyly2 tests
Short-rib thoracic dysplasia 20 with polydactyly1 test
Short-rib thoracic dysplasia 21 without polydactyly2 tests
Short-rib thoracic dysplasia 6 with or without polydactyly4 tests
Short-rib thoracic dysplasia 7 with or without polydactyly3 tests
Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
Shprintzen-Goldberg syndrome2 tests
Shwachman-Diamond syndrome 15 tests
Shwachman-Diamond syndrome 25 tests
Sialic acid storage disease, severe infantile type6 tests
Sialidosis type 25 tests
Sialuria8 tests
Sick sinus syndrome 18 tests
Sick sinus syndrome 2, autosomal dominant7 tests
Sick sinus syndrome 3, susceptibility to1 test
Sideroblastic anemia 23 tests
Sideroblastic anemia 38 tests
Sifrim-Hitz-Weiss syndrome2 tests
Silver-Russell syndrome 11 test
Silver-Russell syndrome 31 test
Simpson-Golabi-Behmel syndrome type 112 tests
Simpson-Golabi-Behmel syndrome type 211 tests
Simvastatin response1 test
SIN3A-related intellectual disability syndrome due to a point mutation2 tests
Singleton-Merten syndrome 18 tests
Singleton-Merten syndrome 23 tests
Sinoatrial node dysfunction and deafness6 tests
Sitosterolemia 15 tests
Sitosterolemia 25 tests
Sjögren-Larsson syndrome7 tests
Skeletal dysplasia, mild, with joint laxity and advanced bone age3 tests
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome2 tests
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES6 tests
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN6 tests
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN2 tests
Skin/hair/eye pigmentation, variation in, 114 tests
Skin/hair/eye pigmentation, variation in, 41 test
Skin/hair/eye pigmentation, variation in, 54 tests
Skin/hair/eye pigmentation, variation in, 83 tests
SLC35A1-congenital disorder of glycosylation2 tests
SLC35A2-congenital disorder of glycosylation4 tests
SLC39A8-CDG6 tests
Small cell lung carcinoma6 tests
Small fiber neuropathy1 test
Smith-Lemli-Opitz syndrome13 tests
Smith-Magenis syndrome4 tests
Smith-McCort dysplasia 11 test
Smith-McCort dysplasia 21 test
Smoking as a quantitative trait locus 32 tests
Sneddon syndrome6 tests
Snowflake vitreoretinal degeneration1 test
Sodium serum level quantitative trait locus 15 tests
Solitary median maxillary central incisor syndrome3 tests
Soluble interleukin-6 receptor, serum level of, quantitative trait locus4 tests
Somatotroph adenoma3 tests
Sorsby fundus dystrophy2 tests
Sotos syndrome7 tests
Southeast Asian ovalocytosis6 tests
Spastic ataxia 14 tests
Spastic ataxia 23 tests
Spastic ataxia 33 tests
Spastic ataxia 42 tests
Spastic ataxia 52 tests
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2 tests
Spastic paraplegia 52, autosomal recessive3 tests
Spastic paraplegia, intellectual disability, nystagmus, and obesity4 tests
Spastic paraplegia-severe developmental delay-epilepsy syndrome3 tests
Spastic tetraplegia and axial hypotonia, progressive2 tests
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4 tests
Spasticity-ataxia-gait anomalies syndrome8 tests
Specific granule deficiency 14 tests
Specific granule deficiency 24 tests
Specific language impairment 51 test
Spermatogenic failure 183 tests
Spermatogenic failure 273 tests
Spermatogenic failure 281 test
Spermatogenic failure 462 tests
Spermatogenic failure 581 test
Spermatogenic failure 721 test
Spermatogenic failure 81 test
Spermatogenic failures 501 test
Sphingolipid activator protein 1 deficiency6 tests
Sphingomyelin/cholesterol lipidosis2 tests
Spinal muscular atrophy3 tests
Spinal muscular atrophy with congenital bone fractures 12 tests
Spinal muscular atrophy with congenital bone fractures 22 tests
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant4 tests
Spinal muscular atrophy, type II8 tests
Spinal muscular atrophy, type IV8 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome11 tests
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1 test
Spinocerebellar ataxia 432 tests
Spinocerebellar ataxia 441 test
Spinocerebellar ataxia 451 test
Spinocerebellar ataxia 461 test
Spinocerebellar ataxia 481 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 15/164 tests
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 251 test
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 282 tests
Spinocerebellar ataxia type 294 tests
Spinocerebellar ataxia type 345 tests
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 381 test
Spinocerebellar ataxia type 404 tests
Spinocerebellar ataxia type 411 test
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 66 tests
Spinocerebellar ataxia, autosomal recessive 242 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
Split hand-foot malformation 11 test
Split hand-foot malformation 1 with sensorineural hearing loss1 test
Split hand-foot malformation 47 tests
Split hand-foot malformation 62 tests
Split-foot malformation-mesoaxial polydactyly syndrome4 tests
Sponastrime dysplasia3 tests
Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
Spondylo-ocular syndrome4 tests
Spondylocarpotarsal synostosis syndrome2 tests
Spondylocostal dysostosis 1, autosomal recessive3 tests
Spondylocostal dysostosis 2, autosomal recessive3 tests
Spondylocostal dysostosis 3, autosomal recessive4 tests
Spondylocostal dysostosis 4, autosomal recessive2 tests
Spondylocostal dysostosis 52 tests
Spondylocostal dysostosis 6, autosomal recessive2 tests
Spondyloenchondrodysplasia with immune dysregulation5 tests
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures5 tests
Spondyloepimetaphyseal dysplasia with joint laxity, type 31 test
Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
Spondyloepimetaphyseal dysplasia, aggrecan type2 tests
Spondyloepimetaphyseal dysplasia, Bieganski type6 tests
Spondyloepimetaphyseal dysplasia, Genevieve type4 tests
Spondyloepimetaphyseal dysplasia, Maroteaux type5 tests
Spondyloepimetaphyseal dysplasia, Missouri type1 test
Spondyloepimetaphyseal dysplasia, PAPSS2 type3 tests
Spondyloepimetaphyseal dysplasia, Shohat type1 test
Spondyloepimetaphyseal dysplasia, Strudwick type3 tests
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
Spondyloepiphyseal dysplasia congenita5 tests
Spondyloepiphyseal dysplasia tarda2 tests
Spondyloepiphyseal dysplasia tarda, X-linked1 test
Spondyloepiphyseal dysplasia with congenital joint dislocations4 tests
Spondyloepiphyseal dysplasia with metatarsal shortening5 tests
Spondyloepiphyseal dysplasia, Kimberley type2 tests
Spondyloepiphyseal dysplasia, kondo-fu type2 tests
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis1 test
Spondyloepiphyseal dysplasia, Stanescu type5 tests
Spondylometaphyseal dysplasia2 tests
Spondylometaphyseal dysplasia - Sutcliffe type8 tests
Spondylometaphyseal dysplasia, Kozlowski type5 tests
Spondylometaphyseal dysplasia, Sedaghatian type1 test
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
Spondyloperipheral dysplasia5 tests
Spongiform encephalopathy with neuropsychiatric features2 tests
Spongy degeneration of central nervous system11 tests
SRD5A3-congenital disorder of glycosylation4 tests
SSR4-congenital disorder of glycosylation3 tests
Stapes ankylosis with broad thumbs and toes4 tests
Stargardt disease 35 tests
Stargardt disease 42 tests
STAT3-related early-onset multisystem autoimmune disease11 tests
Steatocystoma multiplex2 tests
Steel syndrome2 tests
Sterile multifocal osteomyelitis with periostitis and pustulosis4 tests
Sterol carrier protein 2 deficiency6 tests
Stickler syndrome type 15 tests
Stickler syndrome type 25 tests
Stickler syndrome, type 45 tests
Stickler syndrome, type 55 tests
Stickler syndrome, type I, nonsyndromic ocular5 tests
Stiff skin syndrome8 tests
Stormorken syndrome9 tests
Striatal degeneration, autosomal dominant 21 test
Striatonigral degeneration, childhood-onset4 tests
Structural brain anomalies with impaired intellectual development and craniosynostosis2 tests
STT3A-congenital disorder of glycosylation2 tests
STT3B-congenital disorder of glycosylation2 tests
Stuttering, familial persistent, 13 tests
Stüve-Wiedemann syndrome 12 tests
Succinate-semialdehyde dehydrogenase deficiency9 tests
Succinyl-CoA acetoacetate transferase deficiency7 tests
Sucrase-isomaltase deficiency6 tests
Sudden cardiac failure, alcohol-induced4 tests
Sudden cardiac failure, infantile4 tests
SUDDEN INFANT DEATH SYNDROME9 tests
Sudden infant death-dysgenesis of the testes syndrome1 test
Sulfite oxidase deficiency5 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A9 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B8 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C10 tests
Sulfocysteinuria1 test
Supranuclear palsy, progressive, 13 tests
Supravalvar aortic stenosis3 tests
Surfactant metabolism dysfunction, pulmonary, 12 tests
Surfactant metabolism dysfunction, pulmonary, 22 tests
Surfactant metabolism dysfunction, pulmonary, 45 tests
Surfactant metabolism dysfunction, pulmonary, 55 tests
Susceptibility to HIV infection5 tests
Susceptibility to mononeuropathy of the median nerve, mild4 tests
Susceptibility to respiratory infections associated with CD8alpha chain mutation3 tests
Sweeney-Cox syndrome1 test
Symmetrical dyschromatosis of extremities8 tests
Symphalangism, proximal, 1B3 tests
Symphalangism-brachydactyly syndrome4 tests
Syndactyly type 310 tests
Syndactyly type 41 test
Syndactyly type 51 test
Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
Syndromic microphthalmia type 54 tests
Syndromic multisystem autoimmune disease due to ITCH deficiency4 tests
Syndromic X-linked intellectual disability 142 tests
Syndromic X-linked intellectual disability 342 tests
Syndromic X-linked intellectual disability 943 tests
Syndromic X-linked intellectual disability Claes-Jensen type3 tests
Syndromic X-linked intellectual disability Hedera type6 tests
Syndromic X-linked intellectual disability Lubs type6 tests
Syndromic X-linked intellectual disability Najm type4 tests
Syndromic X-linked intellectual disability Nascimento type1 test
Syndromic X-linked intellectual disability Raymond type2 tests
Syndromic X-linked intellectual disability Snyder type1 test
Synpolydactyly1 test
Synpolydactyly type 21 test
Systemic lupus erythematosus17 tests
Systemic lupus erythematosus, susceptibility to, 113 tests
Systemic lupus erythematosus, susceptibility to, 94 tests
T-B+ severe combined immunodeficiency due to JAK3 deficiency5 tests
T-cell immunodeficiency, congenital alopecia, and nail dystrophy4 tests
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant4 tests
Tacrolimus response1 test
Tall stature-scoliosis-macrodactyly of the great toes syndrome3 tests
Tangier disease2 tests
TARP syndrome2 tests
Tarsal-carpal coalition syndrome4 tests
Tatton-Brown-Rahman overgrowth syndrome5 tests
Tay-Sachs disease20 tests
Tay-Sachs disease, B variant, adult form1 test
Tay-Sachs disease, variant AB7 tests
Teebi hypertelorism syndrome1 test
Telangiectasia, hereditary hemorrhagic, type 15 tests
Telangiectasia, hereditary hemorrhagic, type 25 tests
Telangiectasia, hereditary hemorrhagic, type 54 tests
TELO2-related intellectual disability-neurodevelopmental disorder1 test
Temple-Baraitser syndrome2 tests
Temtamy preaxial brachydactyly syndrome3 tests
Temtamy syndrome3 tests
Tenorio syndrome1 test
Terminal osseous dysplasia-pigmentary defects syndrome9 tests
Testicular anomalies with or without congenital heart disease5 tests
Testosterone 17-beta-dehydrogenase deficiency2 tests
Tetraamelia syndrome 12 tests
Tetraamelia syndrome 21 test
Tetralogy of Fallot22 tests
Tetrasomy 9p1 test
TFRC-related combined immunodeficiency5 tests
Thanatophoric dysplasia type 13 tests
Thanatophoric dysplasia, type 23 tests
Thiel-Behnke corneal dystrophy1 test
Thrombocythemia 13 tests
Thrombocythemia 26 tests
Thrombocythemia 32 tests
Thrombocytopenia 114 tests
Thrombocytopenia 23 tests
Thrombocytopenia 43 tests
Thrombocytopenia 53 tests
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia9 tests
Thrombomodulin-related bleeding disorder6 tests
Thrombophilia due to activated protein C resistance4 tests
Thrombophilia due to protein C deficiency, autosomal dominant5 tests
Thrombophilia due to protein C deficiency, autosomal recessive5 tests
Thrombophilia due to protein S deficiency, autosomal dominant5 tests
Thrombophilia due to protein S deficiency, autosomal recessive5 tests
Thrombophilia due to thrombin defect14 tests
Thrombophilia, X-linked, due to factor 9 defect6 tests
Thyroid cancer, nonmedullary, 13 tests
Thyroid cancer, nonmedullary, 210 tests
Thyroid dyshormonogenesis 66 tests
Thyroid gland carcinoma1 test
Thyrotoxic periodic paralysis, susceptibility to, 19 tests
Tibia, hypoplasia or aplasia of, with polydactyly1 test
Tibial muscular dystrophy13 tests
Tietz syndrome5 tests
Timothy syndrome9 tests
TMEM165-congenital disorder of glycosylation5 tests
TMEM199-CDG3 tests
TNF receptor-associated periodic fever syndrome (TRAPS)4 tests
Tobacco addiction, susceptibility to9 tests
Tooth agenesis, selective, 11 test
Tooth agenesis, selective, 31 test
Tooth agenesis, selective, 42 tests
Tooth agenesis, selective, 72 tests
Tooth agenesis, selective, 82 tests
Tooth agenesis, selective, X-linked, 12 tests
Toriello-Lacassie-Droste syndrome7 tests
Torsion dystonia 22 tests
Torsion dystonia 44 tests
Torsion dystonia 62 tests
Townes-Brocks syndrome 14 tests
Tracheoesophageal fistula1 test
Tramadol response1 test
Transcobalamin II deficiency12 tests
Transferrin serum level quantitative trait locus 24 tests
Transient bullous dermolysis of the newborn6 tests
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Transposition of the great arteries, dextro-looped4 tests
Treacher Collins syndrome 12 tests
Treacher Collins syndrome 22 tests
Treacher Collins syndrome 33 tests
Tremor, hereditary essential, 44 tests
Trichohepatoenteric syndrome 16 tests
Trichohepatoenteric syndrome 26 tests
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome3 tests
Trichorhinophalangeal dysplasia type I4 tests
Trichorhinophalangeal syndrome, type III4 tests
Trichothiodystrophy 1, photosensitive8 tests
Trichothiodystrophy 2, photosensitive4 tests
Trichothiodystrophy 3, photosensitive4 tests
Trichothiodystrophy 4, nonphotosensitive4 tests
Trichothiodystrophy 5, nonphotosensitive3 tests
Trichothiodystrophy 6, nonphotosensitive3 tests
Triglyceride storage disease with ichthyosis5 tests
Trigonocephaly 16 tests
Trigonocephaly 24 tests
Trimethylaminuria3 tests
Triosephosphate isomerase deficiency4 tests
Trisomy 10p1 test
Trisomy 12p1 test
Trisomy 17p1 test
Trisomy 183 tests
Trisomy 81 test
Trisomy 8p1 test
Trisomy 8q1 test
Trisomy X syndrome1 test
Troyer syndrome4 tests
Tuberous sclerosis 118 tests
Tuberous sclerosis 218 tests
Tuberous sclerosis syndrome7 tests
Tumor predisposition syndrome 38 tests
Tumoral calcinosis, hyperphosphatemic, familial, 15 tests
Tumoral calcinosis, hyperphosphatemic, familial, 23 tests
Tumoral calcinosis, hyperphosphatemic, familial, 32 tests
Turner syndrome2 tests
Turnpenny-fry syndrome3 tests
TWIST1-related craniosynostosis2 tests
Type 1 diabetes mellitus 107 tests
Type 1 diabetes mellitus 128 tests
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 207 tests
Type 2 diabetes mellitus25 tests
Type A2 brachydactyly3 tests
Type I complement component 8 deficiency3 tests
Type II complement component 8 deficiency3 tests
Tyrosinase-negative oculocutaneous albinism6 tests
Tyrosinase-positive oculocutaneous albinism6 tests
Tyrosinemia type I13 tests
Tyrosinemia type II6 tests
Tyrosinemia type III3 tests
UDPglucose-4-epimerase deficiency5 tests
Ullrich congenital muscular dystrophy 1A7 tests
Ullrich congenital muscular dystrophy 27 tests
Ulnar-mammary syndrome2 tests
Unverricht-Lundborg syndrome2 tests
Upshaw-Schulman syndrome6 tests
Urinary bladder carcinoma2 tests
Urinary bladder, atony of2 tests
Urinary tract neoplasm1 test
Urofacial syndrome type 13 tests
Uruguay Faciocardiomusculoskeletal syndrome10 tests
Usher syndrome type 14 tests
Usher syndrome type 1C4 tests
Usher syndrome type 1D6 tests
Usher syndrome type 1F6 tests
Usher syndrome type 1G3 tests
Usher syndrome type 1J3 tests
Usher syndrome type 2A7 tests
Usher syndrome type 2C4 tests
Usher syndrome type 2D3 tests
Usher syndrome type 3A6 tests
Usher syndrome type 3B1 test
Usher syndrome, type 1M1 test
Usher syndrome, type 43 tests
Uterine leiomyoma1 test
UV-sensitive syndrome 14 tests
UV-sensitive syndrome 24 tests
Uveal coloboma-cleft lip and palate-intellectual disability1 test
VACTERL association, X-linked, with or without hydrocephalus7 tests
VACTERL with hydrocephalus1 test
Van Buchem disease type 22 tests
Van der Woude syndrome 12 tests
Van der Woude syndrome 21 test
Van Maldergem syndrome 11 test
Van Maldergem syndrome 28 tests
Vanishing white matter disease4 tests
Variegate porphyria8 tests
Vasculitis due to ADA2 deficiency6 tests
Velocardiofacial syndrome9 tests
Venlafaxine response1 test
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome3 tests
Ventricular fibrillation, paroxysmal familial, type 18 tests
Ventricular septal defect 15 tests
Ventricular septal defect 36 tests
Ventriculomegaly and arthrogryposis1 test
Ventriculomegaly-cystic kidney disease4 tests
Verapamil response1 test
Very long chain acyl-CoA dehydrogenase deficiency16 tests
Vesicoureteral reflux 22 tests
Vesicoureteral reflux 33 tests
VEXAS syndrome2 tests
Vibratory urticaria2 tests
Vici syndrome6 tests
Visceral myopathy 24 tests
Vissers-Bodmer syndrome2 tests
Vitamin D hydroxylation-deficient rickets, type 1B4 tests
Vitamin D-dependent rickets type II with alopecia5 tests
Vitamin D-dependent rickets, type 1A6 tests
Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
Vitelliform macular dystrophy 22 tests
Vitelliform macular dystrophy 31 test
Vitelliform macular dystrophy 42 tests
Vitelliform macular dystrophy 52 tests
Vitiligo-associated multiple autoimmune disease susceptibility 14 tests
Vitreoretinopathy with phalangeal epiphyseal dysplasia3 tests
Von Hippel-Lindau syndrome15 tests
Waardenburg syndrome type 12 tests
Waardenburg syndrome type 2A5 tests
Waardenburg syndrome type 2D2 tests
Waardenburg syndrome type 2E4 tests
Waardenburg syndrome type 32 tests
Waardenburg syndrome type 4A3 tests
Waardenburg syndrome type 4B2 tests
Waardenburg syndrome type 4C4 tests
Wagner syndrome3 tests
Warburg micro syndrome 14 tests
Warburg micro syndrome 25 tests
Warburg micro syndrome 32 tests
Warburg micro syndrome 42 tests
Warburg-cinotti syndrome1 test
Warfarin response1 test
Warfarin sensitivity, X-linked6 tests
Warsaw breakage syndrome1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
Weaver syndrome4 tests
Weill-Marchesani 4 syndrome, recessive1 test
Weill-Marchesani syndrome 14 tests
Weill-Marchesani syndrome 2, dominant8 tests
Weill-Marchesani syndrome 34 tests
Welander distal myopathy2 tests
Werdnig-Hoffmann disease8 tests
Werner syndrome5 tests
WHIM syndrome 15 tests
Wieacker-Wolff syndrome2 tests
Wieacker-Wolff syndrome, female-restricted2 tests
Wiedemann-Steiner syndrome8 tests
Williams syndrome3 tests
Wilms tumor 126 tests
Wilson disease21 tests
Winchester syndrome2 tests
Wiskott-Aldrich syndrome13 tests
Wiskott-Aldrich syndrome 25 tests
Wolcott-Rallison dysplasia7 tests
Wolff-Parkinson-White pattern8 tests
Wolfram syndrome 16 tests
Wolfram syndrome 23 tests
Wolfram-like syndrome6 tests
Woodhouse-Sakati syndrome7 tests
Woolly hair-skin fragility syndrome7 tests
Wooly hair, autosomal recessive 31 test
Wooly hair-palmoplantar keratoderma syndrome5 tests
Worth disease6 tests
Wrinkly skin syndrome4 tests
X-linked acrogigantism due to Xq26 microduplication1 test
X-linked agammaglobulinemia9 tests
X-linked agammaglobulinemia with growth hormone deficiency9 tests
X-linked Alport syndrome6 tests
X-linked chondrodysplasia punctata 11 test
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
X-linked complicated corpus callosum dysgenesis7 tests
X-linked cone-rod dystrophy 15 tests
X-linked cone-rod dystrophy 32 tests
X-linked distal spinal muscular atrophy type 313 tests
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia9 tests
X-linked dystonia-parkinsonism3 tests
X-linked Emery-Dreifuss muscular dystrophy8 tests
X-linked erythropoietic protoporphyria8 tests
X-linked hydrocephalus syndrome7 tests
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia9 tests
X-linked intellectual disability Cabezas type5 tests
X-linked intellectual disability with marfanoid habitus7 tests
X-linked intellectual disability, Cantagrel type2 tests
X-linked intellectual disability, van Esch type5 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
X-linked intellectual disability-psychosis-macroorchidism syndrome6 tests
X-linked lissencephaly with abnormal genitalia9 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency9 tests
X-linked lymphoproliferative disease due to XIAP deficiency8 tests
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency7 tests
X-linked mixed hearing loss with perilymphatic gusher7 tests
X-linked myopathy with excessive autophagy5 tests
X-linked myopathy with postural muscle atrophy10 tests
X-linked Opitz G/BBB syndrome3 tests
X-linked parkinsonism-spasticity syndrome6 tests
X-linked recessive nephrolithiasis with renal failure6 tests
X-linked reticulate pigmentary disorder5 tests
X-linked scapuloperoneal muscular dystrophy10 tests
X-linked severe combined immunodeficiency9 tests
X-linked severe congenital neutropenia14 tests
X-linked sideroblastic anemia 18 tests
X-linked sideroblastic anemia with ataxia4 tests
X-linked spondyloepimetaphyseal dysplasia3 tests
Xanthinuria type II4 tests
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum group B4 tests
Xeroderma pigmentosum variant type1 test
Xeroderma pigmentosum, group C3 tests
Xeroderma pigmentosum, group D8 tests
Xeroderma pigmentosum, group F3 tests
Xeroderma pigmentosum, group G1 test
XFE progeroid syndrome3 tests
Yao syndrome5 tests
Yunis-Varon syndrome7 tests
Zimmermann-Laband syndrome 12 tests
ZTTK syndrome4 tests

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