Asper Biogene

Personnel

Director: Kairit Joost, PhD, MD, Lab Director
Phone: +372 7307 295
Fax: +372 7307 298
Email: info@asperbio.com
Kaie Jaakson, MSc, Quality Manager
Siim Sõber, PhD, Scientific Director

Conditions and tests

3114 conditions/phenotypes with 160 tests
Enter text to narrow down the list

11p partial monosomy syndrome1 test
2-aminoadipic 2-oxoadipic aciduria1 test
2-hydroxyglutaric aciduria1 test
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-Methylglutaconic aciduria type 25 tests
3-Methylglutaconic aciduria type 31 test
3-methylglutaconic aciduria type 81 test
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome3 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
46,XY sex reversal 22 tests
Aarskog syndrome1 test
Abetalipoproteinaemia1 test
ABri amyloidosis1 test
Achondrogenesis type II2 tests
Achondrogenesis, type IA1 test
Achondrogenesis, type IB2 tests
Achondroplasia3 tests
Achromatopsia 23 tests
Achromatopsia 33 tests
Achromatopsia 43 tests
Achromatopsia 61 test
Achromatopsia 72 tests
Acral peeling skin syndrome2 tests
Acrocallosal syndrome3 tests
Acrocapitofemoral dysplasia1 test
Acrocephalosyndactyly type I1 test
Acrokeratosis verruciformis of Hopf1 test
Acromesomelic dysplasia 1, Maroteaux type1 test
Acromicric dysplasia1 test
Actin accumulation myopathy1 test
Action myoclonus-renal failure syndrome1 test
Aculeiform cataract2 tests
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acute intermittent porphyria1 test
Acute lymphoid leukemia2 tests
Acute myeloid leukemia1 test
ADan amyloidosis1 test
Adenylosuccinate lyase deficiency1 test
Adrenocortical carcinoma, hereditary2 tests
Adrenoleukodystrophy1 test
Adult hypophosphatasia1 test
Adult neuronal ceroid lipofuscinosis1 test
Adult polyglucosan body disease2 tests
Adult-onset autosomal dominant demyelinating leukodystrophy1 test
Adult-onset foveomacular vitelliform dystrophy1 test
Advanced sleep phase syndrome 21 test
Afibrinogenemia1 test
Age related macular degeneration 41 test
Age related macular degeneration 61 test
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi-Goutieres syndrome 11 test
Aicardi-Goutieres syndrome 22 tests
Aicardi-Goutieres syndrome 41 test
Aicardi-Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 62 tests
AIP-Related Familial Isolated Pituitary Adenomas1 test
Alacrima, achalasia, and intellectual disability syndrome1 test
Alagille syndrome due to a JAG1 point mutation2 tests
Alagille syndrome due to a NOTCH2 point mutation4 tests
Alazami-Yuan syndrome1 test
Albright hereditary osteodystrophy1 test
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
Alexander disease1 test
ALG1-congenital disorder of glycosylation1 test
ALG11-congenital disorder of glycosylation1 test
ALG12-congenital disorder of glycosylation1 test
ALG2-congenital disorder of glycosylation2 tests
ALG3-congenital disorder of glycosylation2 tests
ALG6-congenital disorder of glycosylation 1C1 test
ALG8 congenital disorder of glycosylation2 tests
ALG9 congenital disorder of glycosylation1 test
Allan-Herndon-Dudley syndrome2 tests
Alopecia universalis congenita1 test
Alpers encephalopathy1 test
alpha Thalassemia1 test
Alpha-1-antitrypsin deficiency1 test
Alpha-N-acetylgalactosaminidase deficiency type 11 test
Alpha-N-acetylgalactosaminidase deficiency type 21 test
Alstrom syndrome3 tests
Alternating hemiplegia of childhood1 test
Alternating hemiplegia of childhood 12 tests
Alternating hemiplegia of childhood 24 tests
Alveolar capillary dysplasia with pulmonary venous misalignment1 test
Alzheimer disease1 test
Alzheimer disease 21 test
Alzheimer disease 41 test
Alzheimer disease 91 test
Amaurosis-hypertrichosis syndrome2 tests
Amelocerebrohypohidrotic syndrome1 test
Amelogenesis imperfecta type 1A1 test
Aminoacylase 1 deficiency1 test
Aminoglycoside-induced deafness1 test
Amish lethal microcephaly2 tests
Amyloidosis, hereditary systemic 12 tests
Amyotrophic lateral sclerosis type 12 tests
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 112 tests
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 152 tests
Amyotrophic lateral sclerosis type 162 tests
Amyotrophic lateral sclerosis type 181 test
Amyotrophic lateral sclerosis type 191 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 212 tests
Amyotrophic lateral sclerosis type 222 tests
Amyotrophic lateral sclerosis type 42 tests
Amyotrophic lateral sclerosis type 52 tests
Amyotrophic lateral sclerosis type 62 tests
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis type 91 test
Amyotrophic lateral sclerosis, susceptibility to, 241 test
Anauxetic dysplasia 11 test
Andersen Tawil syndrome3 tests
Androgen resistance syndrome2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Aneurysm-osteoarthritis syndrome2 tests
Angelman syndrome2 tests
Angelman syndrome-like1 test
Aniridia 15 tests
ANKRD1-related dilated cardiomyopathy2 tests
Annular epidermolytic ichthyosis3 tests
Anophthalmia-microphthalmia syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
Anterior segment anomalies with or without cataract2 tests
Anterior segment dysgenesis2 tests
Anterior segment dysgenesis 33 tests
Anterior segment dysgenesis 43 tests
Anterior segment dysgenesis 63 tests
Anterior segment dysgenesis 71 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic valve disease 21 test
Aplastic anemia1 test
Apparent mineralocorticoid excess1 test
Arginase deficiency1 test
Arginine:glycine amidinotransferase deficiency1 test
Argininosuccinate lyase deficiency1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma3 tests
Arrhythmogenic right ventricular dysplasia 12 tests
Arrhythmogenic right ventricular dysplasia 103 tests
Arrhythmogenic right ventricular dysplasia 113 tests
Arrhythmogenic right ventricular dysplasia 123 tests
Arrhythmogenic right ventricular dysplasia 131 test
Arrhythmogenic right ventricular dysplasia 23 tests
Arrhythmogenic right ventricular dysplasia 52 tests
Arrhythmogenic right ventricular dysplasia 83 tests
Arrhythmogenic right ventricular dysplasia 93 tests
Arterial tortuosity syndrome1 test
Arthrogryposis multiplex congenita 3, myogenic type1 test
Arthrogryposis, distal, type 1A1 test
Aspartylglucosaminuria1 test
Asphyxiating thoracic dystrophy 13 tests
Asphyxiating thoracic dystrophy 23 tests
Asphyxiating thoracic dystrophy 32 tests
Asphyxiating thoracic dystrophy 44 tests
Asphyxiating thoracic dystrophy 53 tests
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2 tests
Ataxia - oculomotor apraxia type 41 test
Ataxia - telangiectasia variant2 tests
Ataxia with oculomotor apraxia type 31 test
Ataxia-pancytopenia syndrome1 test
Ataxia-telangiectasia syndrome2 tests
Ataxia-telangiectasia-like disorder3 tests
Ateleiotic dwarfism1 test
Atelosteogenesis type I1 test
Atelosteogenesis type II2 tests
Atelosteogenesis type III1 test
Athabaskan severe combined immunodeficiency1 test
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 122 tests
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 142 tests
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 72 tests
Atrial fibrillation, familial, 92 tests
Atrial septal defect 31 test
Atrial septal defect 41 test
Atrial septal defect 51 test
Atrial septal defect 71 test
Atrial standstill 11 test
Atrial standstill 21 test
Atrichia with papular lesions1 test
Atrophia bulborum hereditaria3 tests
Atypical hemolytic-uremic syndrome1 test
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Auditory neuropathy1 test
Auditory neuropathy, autosomal recessive, 11 test
Autism spectrum disorder1 test
Autism spectrum disorder - epilepsy - arthrogryposis syndrome1 test
Autism, susceptibility to, 51 test
Autoimmune disease, multisystem, infantile-onset, 21 test
Autoimmune thyroid disease, susceptibility to, 34 tests
Autosomal dominant Alport syndrome1 test
Autosomal dominant centronuclear myopathy1 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy2 tests
Autosomal dominant Charcot-Marie-Tooth disease type 2M1 test
Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant hypocalcemia 12 tests
Autosomal dominant hypocalcemia 21 test
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant Kenny-Caffey syndrome2 tests
Autosomal dominant keratitis1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
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 nonsyndromic hearing loss1 test
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 132 tests
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 232 tests
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 362 tests
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 481 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 511 test
Autosomal dominant nonsyndromic hearing loss 562 tests
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant optic atrophy classic form2 tests
Autosomal dominant osteopetrosis 13 tests
Autosomal dominant osteopetrosis 22 tests
Autosomal dominant Parkinson disease 12 tests
Autosomal dominant Parkinson disease 42 tests
Autosomal dominant Parkinson disease 82 tests
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant Robinow syndrome 21 test
Autosomal dominant sideroblastic anemia1 test
Autosomal dominant slowed nerve conduction velocity1 test
Autosomal dominant vitreoretinochoroidopathy3 tests
Autosomal dominant wooly hair1 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive ataxia, Beauce type2 tests
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive bestrophinopathy2 tests
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
Autosomal recessive complex spastic paraplegia type 9B1 test
Autosomal recessive congenital ichthyosis 11 test
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 4A1 test
Autosomal recessive congenital ichthyosis 4B1 test
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 distal spinal muscular atrophy 21 test
Autosomal recessive DOPA responsive dystonia3 tests
Autosomal recessive early-onset Parkinson disease 231 test
Autosomal recessive early-onset Parkinson disease 61 test
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive inherited pseudoxanthoma elasticum2 tests
Autosomal recessive juvenile Parkinson disease 22 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2T4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
Autosomal recessive limb-girdle muscular dystrophy type 2X1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Y1 test
Autosomal recessive limb-girdle muscular dystrophy type R181 test
Autosomal recessive nonsyndromic hearing loss 122 tests
Autosomal recessive nonsyndromic hearing loss 153 tests
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 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 43 tests
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 482 tests
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 532 tests
Autosomal recessive nonsyndromic hearing loss 591 test
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 661 test
Autosomal recessive nonsyndromic hearing loss 673 tests
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 773 tests
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 892 tests
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive omodysplasia1 test
Autosomal recessive optic atrophy, OPA7 type2 tests
Autosomal recessive osteopetrosis 12 tests
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 42 tests
Autosomal recessive osteopetrosis 51 test
Autosomal recessive osteopetrosis 61 test
Autosomal recessive osteopetrosis 71 test
Autosomal recessive osteopetrosis 81 test
Autosomal recessive Parkinson disease 141 test
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive progressive external ophthalmoplegia1 test
Autosomal recessive proximal renal tubular acidosis3 tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1 test
Autosomal recessive spastic paraplegia type 761 test
Autosomal recessive spinocerebellar ataxia 101 test
Autosomal recessive spinocerebellar ataxia 111 test
Autosomal recessive spinocerebellar ataxia 131 test
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 151 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 171 test
Autosomal recessive spinocerebellar ataxia 181 test
Autosomal recessive spinocerebellar ataxia 21 test
Autosomal recessive spinocerebellar ataxia 72 tests
Avascular necrosis of femoral head, primary, 11 test
Avascular necrosis of femoral head, primary, 21 test
Avellino corneal dystrophy2 tests
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
Axial spondylometaphyseal dysplasia1 test
B4GALT1-congenital disorder of glycosylation1 test
Bailey-Bloch congenital myopathy2 tests
Baller-Gerold syndrome2 tests
Bamforth-Lazarus syndrome1 test
Band heterotopia of brain1 test
BAP1-related tumor predisposition syndrome2 tests
Baraitser-Winter syndrome 12 tests
Baraitser-winter syndrome 22 tests
Bardet-Biedl syndrome 13 tests
Bardet-Biedl syndrome 103 tests
Bardet-Biedl syndrome 113 tests
Bardet-Biedl syndrome 123 tests
Bardet-Biedl syndrome 133 tests
Bardet-Biedl syndrome 144 tests
Bardet-Biedl syndrome 153 tests
Bardet-Biedl syndrome 165 tests
Bardet-Biedl syndrome 172 tests
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 191 test
Bardet-Biedl syndrome 24 tests
Bardet-biedl syndrome 212 tests
Bardet-Biedl syndrome 33 tests
Bardet-Biedl syndrome 43 tests
Bardet-Biedl syndrome 53 tests
Bardet-Biedl syndrome 63 tests
Bardet-Biedl syndrome 73 tests
Bardet-Biedl syndrome 83 tests
Bardet-Biedl syndrome 93 tests
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 32 tests
Bartter disease type 4A2 tests
Bartter disease type 4B2 tests
Bartter syndrome with hypocalcemia1 test
Basal cell carcinoma, susceptibility to, 11 test
Basal cell carcinoma, susceptibility to, 73 tests
Beare-Stevenson cutis gyrata syndrome1 test
Becker muscular dystrophy2 tests
Beckwith-Wiedemann syndrome2 tests
BENTA disease1 test
Bernard Soulier syndrome1 test
beta Thalassemia1 test
Beta-D-mannosidosis1 test
Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
Bethlem myopathy 1A2 tests
Bethlem myopathy 23 tests
Bietti crystalline corneoretinal dystrophy2 tests
Bilateral frontoparietal polymicrogyria1 test
Bilateral parasagittal parieto-occipital polymicrogyria1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency1 test
Birt-Hogg-Dube syndrome1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Bloom syndrome2 tests
BNAR syndrome1 test
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
Bone marrow failure syndrome 31 test
Bone mineral density quantitative trait locus 12 tests
Bone mineral density quantitative trait locus 181 test
Bone osteosarcoma2 tests
Boomerang dysplasia1 test
Borjeson-Forssman-Lehmann syndrome1 test
Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
Bothnia retinal dystrophy1 test
Brachydactyly type A11 test
Brachydactyly-arterial hypertension syndrome2 tests
Brachyrachia (short spine dysplasia)1 test
Bradyopsia1 test
Brain small vessel disease 1 with or without ocular anomalies2 tests
Brain-lung-thyroid syndrome3 tests
Branchiootic syndrome 11 test
Branchiootic syndrome 32 tests
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 22 tests
Breast cancer, early-onset1 test
Breast cancer, susceptibility to1 test
Breast-ovarian cancer, familial, susceptibility to, 14 tests
Breast-ovarian cancer, familial, susceptibility to, 24 tests
Breast-ovarian cancer, familial, susceptibility to, 31 test
Breast-ovarian cancer, familial, susceptibility to, 41 test
Brittle cornea syndrome 13 tests
Brittle cornea syndrome 23 tests
Bronchiectasis with or without elevated sweat chloride 11 test
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Brown-Vialetto-van Laere syndrome 21 test
Bruck syndrome 12 tests
Bruck syndrome 22 tests
Brugada syndrome1 test
Brugada syndrome 13 tests
Brugada syndrome 22 tests
Brugada syndrome 34 tests
Brugada syndrome 43 tests
Brugada syndrome 52 tests
Brugada syndrome 62 tests
Brugada syndrome 72 tests
Brugada syndrome 82 tests
Brugada syndrome 91 test
C syndrome1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Camptomelic dysplasia4 tests
Cantu syndrome, KCNJ8 related1 test
Capillary malformation-arteriovenous malformation 11 test
Capillary malformation-arteriovenous malformation 21 test
CARASIL syndrome1 test
Carcinoid tumor of intestine1 test
Carcinoma of colon1 test
Carcinoma of pancreas1 test
Cardiac arrhythmia, ankyrin-B-related2 tests
Cardiac valvular dysplasia, X-linked3 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2 tests
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 32 tests
Carney complex, type 11 test
Carney-Stratakis syndrome2 tests
Carnitine acylcarnitine translocase deficiency2 tests
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyl transferase II deficiency, myopathic form2 tests
Carnitine palmitoyl transferase II deficiency, neonatal form2 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
Cataract 1 multiple types1 test
Cataract 10 multiple types2 tests
Cataract 11 multiple types1 test
Cataract 11 with microphthalmia and neurodevelopmental abnormalities1 test
Cataract 12 multiple types1 test
Cataract 13 with adult I phenotype1 test
Cataract 14 multiple types2 tests
Cataract 15 multiple types2 tests
Cataract 16 multiple types2 tests
Cataract 17 multiple types2 tests
Cataract 182 tests
Cataract 19 multiple types2 tests
Cataract 20 multiple types2 tests
Cataract 21 multiple types1 test
Cataract 22 multiple types2 tests
Cataract 232 tests
Cataract 3 multiple types2 tests
Cataract 302 tests
Cataract 31 multiple types2 tests
Cataract 331 test
Cataract 362 tests
Cataract 383 tests
Cataract 39 multiple types2 tests
Cataract 402 tests
Cataract 411 test
Cataract 431 test
Cataract 441 test
Cataract 451 test
Cataract 5 multiple types1 test
Cataract 6 multiple types2 tests
Cataract 9 multiple types2 tests
Cataract with late-onset corneal dystrophy1 test
Cataract, polymorphic and lamellar1 test
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
Catecholaminergic polymorphic ventricular tachycardia 13 tests
Catecholaminergic polymorphic ventricular tachycardia 23 tests
Catecholaminergic polymorphic ventricular tachycardia 42 tests
Catecholaminergic polymorphic ventricular tachycardia 51 test
Cayman type cerebellar ataxia1 test
CBL-related disorder1 test
CEDNIK syndrome3 tests
Cenani-Lenz syndactyly syndrome1 test
Central core myopathy3 tests
Cerebellar ataxia type 91 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2 tests
Cerebellar ataxia-hypogonadism syndrome1 test
Cerebellar atrophy, developmental delay, and seizures1 test
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1 test
Cerebral amyloid angiopathy, APP-related1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Cerebral creatine deficiency syndrome1 test
Cerebral folate transport deficiency2 tests
Cerebrooculofacioskeletal syndrome 12 tests
Cerebrooculofacioskeletal syndrome 21 test
Cernunnos-XLF deficiency3 tests
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)2 tests
Ceroid lipofuscinosis, neuronal, 6A2 tests
CFHR5 deficiency1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2CC1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O1 test
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease axonal type 2Q2 tests
Charcot-Marie-Tooth disease axonal type 2S1 test
Charcot-Marie-Tooth disease axonal type 2T2 tests
Charcot-Marie-Tooth disease axonal type 2U1 test
Charcot-Marie-Tooth disease axonal type 2V1 test
Charcot-Marie-Tooth disease axonal type 2X1 test
Charcot-Marie-Tooth disease axonal type 2Z1 test
Charcot-Marie-Tooth disease dominant intermediate B2 tests
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease dominant intermediate F1 test
Charcot-Marie-Tooth disease recessive intermediate A1 test
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease recessive intermediate C1 test
Charcot-Marie-Tooth disease recessive intermediate D1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 21 test
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B14 tests
Charcot-Marie-Tooth disease type 2B21 test
Charcot-Marie-Tooth disease type 2D2 tests
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2R1 test
Charcot-Marie-Tooth disease type 2Y3 tests
Charcot-Marie-Tooth disease type 41 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4B22 tests
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4G2 tests
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J2 tests
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-marie-tooth disease, axonal, type 2DD1 test
Charcot-Marie-Tooth disease, type IA1 test
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome1 test
CHARGE syndrome4 tests
Charlevoix-Saguenay spastic ataxia1 test
Child syndrome2 tests
Childhood apraxia of speech1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 23 tests
Chitayat syndrome1 test
Cholestanol storage disease1 test
Chondrodysplasia Blomstrand type1 test
Chondrodysplasia punctata 2 X-linked dominant2 tests
Choreoathetosis1 test
Choroid plexus papilloma2 tests
Choroidal dystrophy, central areolar 21 test
Choroideremia2 tests
Christianson syndrome3 tests
Chromosome 15q13.3 microdeletion syndrome1 test
Chromosome 1q41-q42 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chudley-McCullough syndrome2 tests
Chuvash polycythemia3 tests
Chédiak-Higashi syndrome2 tests
Ciliary dyskinesia, primary, 36, X-linked1 test
Ciliary dyskinesia, primary, 372 tests
Citrullinemia1 test
Citrullinemia type I1 test
Citrullinemia type II2 tests
CK syndrome2 tests
Clark-Baraitser syndrome1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Classic homocystinuria2 tests
COACH syndrome 15 tests
Cobalamin C disease1 test
Cobblestone lissencephaly without muscular or ocular involvement1 test
Cockayne syndrome type 21 test
Coenzyme Q10 deficiency, primary, 12 tests
Coenzyme Q10 deficiency, primary, 31 test
Coffin-Siris syndrome1 test
COG1 congenital disorder of glycosylation1 test
COG4-congenital disorder of glycosylation1 test
COG5-congenital disorder of glycosylation1 test
COG6-ongenital disorder of glycosylation1 test
COG7 congenital disorder of glycosylation1 test
COG8-congenital disorder of glycosylation1 test
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1 test
Cohen syndrome2 tests
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 22 tests
Coloboma of optic nerve1 test
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
Colorectal cancer2 tests
Colorectal cancer, hereditary nonpolyposis, type 25 tests
Colorectal cancer, susceptibility to, 101 test
Combined deficiency of sialidase AND beta galactosidase1 test
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
Combined immunodeficiency due to CD3gamma deficiency1 test
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined immunodeficiency due to MALT1 deficiency1 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to partial RAG1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined immunodeficiency due to ZAP70 deficiency1 test
Combined immunodeficiency with skin granulomas1 test
Combined immunodeficiency, X-linked1 test
Combined immunodeficiency, X-linked, moderate1 test
Combined malonic and methylmalonic acidemia1 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 22 tests
Combined oxidative phosphorylation defect type 111 test
Combined oxidative phosphorylation defect type 131 test
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation defect type 171 test
Combined oxidative phosphorylation defect type 201 test
Combined oxidative phosphorylation defect type 211 test
Combined oxidative phosphorylation defect type 231 test
Combined oxidative phosphorylation defect type 241 test
Combined oxidative phosphorylation defect type 252 tests
Combined oxidative phosphorylation defect type 271 test
Combined oxidative phosphorylation defect type 301 test
Combined oxidative phosphorylation defect type 71 test
Combined oxidative phosphorylation defect type 91 test
Combined oxidative phosphorylation deficiency 191 test
Combined oxidative phosphorylation deficiency 221 test
Combined oxidative phosphorylation deficiency 281 test
Combined oxidative phosphorylation deficiency 291 test
Combined oxidative phosphorylation deficiency 341 test
Combined oxidative phosphorylation deficiency 351 test
Combined oxidative phosphorylation deficiency 391 test
Combined PSAP deficiency2 tests
Complement component 3 deficiency1 test
Complement component C1s deficiency1 test
Complement factor b deficiency1 test
Complete androgen insensitivity syndrome1 test
Complex cortical dysplasia with other brain malformations 13 tests
Complex cortical dysplasia with other brain malformations 23 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 52 tests
Complex cortical dysplasia with other brain malformations 61 test
Complex cortical dysplasia with other brain malformations 73 tests
Compton-North congenital myopathy1 test
Cone dystrophy 31 test
Cone dystrophy 43 tests
Cone dystrophy with supernormal rod response1 test
Cone monochromatism1 test
Cone-rod dystrophy2 tests
Cone-rod dystrophy 102 tests
Cone-rod dystrophy 112 tests
Cone-rod dystrophy 122 tests
Cone-rod dystrophy 133 tests
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 163 tests
Cone-rod dystrophy 182 tests
Cone-rod dystrophy 192 tests
Cone-rod dystrophy 22 tests
Cone-rod dystrophy 203 tests
Cone-rod dystrophy 33 tests
Cone-rod dystrophy 52 tests
Cone-rod dystrophy 62 tests
Cone-rod dystrophy 72 tests
Cone-rod dystrophy 92 tests
Cone-rod synaptic disorder, congenital nonprogressive3 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital adrenal hypoplasia, X-linked2 tests
Congenital afibrinogenemia1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome2 tests
Congenital defect of folate absorption1 test
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital disorder of deglycosylation1 test
Congenital disorder of glycosylation1 test
Congenital disorder of glycosylation type 1E2 tests
Congenital disorder of glycosylation type Ir1 test
Congenital disorder of glycosylation, type ICC2 tests
Congenital disorder of glycosylation, type IIq1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital fibrosis of extraocular muscles type 12 tests
Congenital heart defects, multiple types, 61 test
Congenital hereditary endothelial dystrophy of cornea2 tests
Congenital hyperammonemia, type I1 test
Congenital hypotrichosis with juvenile macular dystrophy2 tests
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital isolated adrenocorticotropic hormone deficiency1 test
Congenital long QT syndrome2 tests
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome2 tests
Congenital multicore myopathy with external ophthalmoplegia3 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
Congenital muscular dystrophy due to LMNA mutation4 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy2 tests
Congenital muscular hypertrophy-cerebral syndrome3 tests
Congenital myasthenic syndrome 102 tests
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 142 tests
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 162 tests
Congenital myasthenic syndrome 171 test
Congenital myasthenic syndrome 183 tests
Congenital myasthenic syndrome 201 test
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C1 test
Congenital myasthenic syndrome 3A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 71 test
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 91 test
Congenital myopathy 231 test
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion3 tests
Congenital myopathy with internal nuclei and atypical cores1 test
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
Congenital nongoitrous hypothyroidism 63 tests
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital pontocerebellar hypoplasia type 11 test
Congenital primary aphakia1 test
Congenital prothrombin deficiency2 tests
Congenital reticular ichthyosiform erythroderma2 tests
Congenital secretory sodium diarrhea 81 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital short bowel syndrome, X-linked1 test
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2 tests
Congenital stationary night blindness 1A2 tests
Congenital stationary night blindness 1B2 tests
Congenital stationary night blindness 1C2 tests
Congenital stationary night blindness 1D1 test
Congenital stationary night blindness 1E1 test
Congenital stationary night blindness 1G1 test
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 dystrophy2 tests
Conotruncal heart malformations3 tests
Constitutional megaloblastic anemia with severe neurologic disease1 test
Corneal dystrophy, Fuchs endothelial, 13 tests
Corneal dystrophy, Fuchs endothelial, 31 test
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, lattice type 3A2 tests
Corneal dystrophy-perceptive deafness syndrome2 tests
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 32 tests
Cornelia de Lange syndrome 42 tests
Cornelia de Lange syndrome 53 tests
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Cortical dysplasia, complex, with other brain malformations 101 test
Cortical dysplasia, complex, with other brain malformations 92 tests
Cortical dysplasia-focal epilepsy syndrome1 test
Costello syndrome1 test
Cowden syndrome2 tests
Cowden syndrome 11 test
Cowden syndrome 32 tests
Cowden syndrome 51 test
Cowden syndrome 61 test
Cowden syndrome 72 tests
Cranioectodermal dysplasia 12 tests
Cranioectodermal dysplasia 22 tests
Cranioectodermal dysplasia 31 test
Cranioectodermal dysplasia 42 tests
Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
Craniofrontonasal syndrome1 test
Craniosynostosis 21 test
Craniosynostosis 41 test
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis 71 test
Craniosynostosis and dental anomalies1 test
Creatine transporter deficiency1 test
Crouzon syndrome1 test
Crouzon syndrome-acanthosis nigricans syndrome2 tests
Cryptophthalmos syndrome1 test
Cryptorchidism1 test
Curry-Hall syndrome3 tests
Cutaneous porphyria1 test
Cutis laxa with osteodystrophy4 tests
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
Cutis laxa, autosomal dominant 12 tests
Cutis laxa, autosomal dominant 22 tests
Cutis laxa, autosomal dominant 32 tests
Cutis laxa, autosomal recessive, type 1A2 tests
Cutis laxa, autosomal recessive, type 1B2 tests
Cutis laxa, X-linked2 tests
Cyclical neutropenia1 test
Cystic fibrosis5 tests
Cystic leukoencephalopathy without megalencephaly1 test
D-2-hydroxyglutaric aciduria 11 test
Danon disease4 tests
de Barsy syndrome1 test
DE SANCTIS-CACCHIONE SYNDROME1 test
Deafness dystonia syndrome2 tests
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12 tests
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
Deafness-lymphedema-leukemia syndrome1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of alpha-mannosidase3 tests
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of ferroxidase1 test
Deficiency of galactokinase2 tests
Deficiency of hyaluronoglucosaminidase2 tests
Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
Deficiency of iodide peroxidase4 tests
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of phosphoserine phosphatase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Denticles1 test
Dentinogenesis imperfecta type 21 test
Dentinogenesis imperfecta type 31 test
Dermatitis, atopic, 2, susceptibility to1 test
Dermatopathia pigmentosa reticularis1 test
Desbuquois dysplasia 13 tests
Desbuquois dysplasia 21 test
Desmin-related myofibrillar myopathy2 tests
Desmoid disease, hereditary1 test
Desmosterolosis2 tests
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy, 12 tests
Developmental and epileptic encephalopathy, 112 tests
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 172 tests
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 191 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 231 test
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 251 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 272 tests
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 301 test
Developmental and epileptic encephalopathy, 31A1 test
Developmental and epileptic encephalopathy, 321 test
Developmental and epileptic encephalopathy, 331 test
Developmental and epileptic encephalopathy, 341 test
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 371 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 411 test
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 442 tests
Developmental and epileptic encephalopathy, 451 test
Developmental and epileptic encephalopathy, 461 test
Developmental and epileptic encephalopathy, 471 test
Developmental and epileptic encephalopathy, 481 test
Developmental and epileptic encephalopathy, 491 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 511 test
Developmental and epileptic encephalopathy, 532 tests
Developmental and epileptic encephalopathy, 541 test
Developmental and epileptic encephalopathy, 551 test
Developmental and epileptic encephalopathy, 571 test
Developmental and epileptic encephalopathy, 591 test
Developmental and epileptic encephalopathy, 61 test
Developmental and epileptic encephalopathy, 601 test
Developmental and epileptic encephalopathy, 611 test
Developmental and epileptic encephalopathy, 621 test
Developmental and epileptic encephalopathy, 651 test
Developmental and epileptic encephalopathy, 681 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 701 test
Developmental and epileptic encephalopathy, 721 test
Developmental and epileptic encephalopathy, 751 test
Developmental and epileptic encephalopathy, 761 test
Developmental and epileptic encephalopathy, 771 test
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 801 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental and epileptic encephalopathy, 91 test
Developmental delay and seizures with or without movement abnormalities1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
Developmental malformations-deafness-dystonia syndrome2 tests
Diabetes mellitus type 12 tests
Diabetes mellitus, ketosis-prone1 test
Diabetes mellitus, permanent neonatal 21 test
Diabetes mellitus, permanent neonatal 31 test
Diabetes mellitus, transient neonatal, 11 test
Diabetes mellitus, transient neonatal, 22 tests
Diabetes mellitus, transient neonatal, 32 tests
Dias-Logan syndrome1 test
Diastrophic dysplasia2 tests
DICER1-related tumor predisposition1 test
Diencephalic-mesencephalic junction dysplasia syndrome 13 tests
Diencephalic-mesencephalic junction dysplasia syndrome 23 tests
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
Diffuse nonepidermolytic palmoplantar keratoderma3 tests
DiGeorge syndrome2 tests
Dilated cardiomyopathy 1A6 tests
Dilated cardiomyopathy 1AA2 tests
Dilated cardiomyopathy 1BB3 tests
Dilated cardiomyopathy 1C4 tests
Dilated cardiomyopathy 1CC2 tests
Dilated cardiomyopathy 1D2 tests
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G5 tests
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I5 tests
Dilated cardiomyopathy 1II3 tests
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L2 tests
Dilated cardiomyopathy 1M2 tests
Dilated cardiomyopathy 1NN2 tests
Dilated cardiomyopathy 1O2 tests
Dilated cardiomyopathy 1P4 tests
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S3 tests
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W3 tests
Dilated cardiomyopathy 1X2 tests
Dilated cardiomyopathy 1Y2 tests
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 2B1 test
Dilated cardiomyopathy 3B3 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
Distal arthrogryposis type 2B11 test
Distal myopathy1 test
Distal myopathy with anterior tibial onset2 tests
Distal myopathy with posterior leg and anterior hand involvement2 tests
Distal myopathy, Tateyama type3 tests
DK1-congenital disorder of glycosylation1 test
DNA ligase IV deficiency1 test
Dominant dystrophic epidermolysis bullosa with absence of skin1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency2 tests
Dowling-Degos disease 11 test
Doyne honeycomb retinal dystrophy1 test
DPAGT1-congenital disorder of glycosylation2 tests
DPM3-congenital disorder of glycosylation2 tests
Drash syndrome2 tests
Duchenne muscular dystrophy2 tests
Dyggve-Melchior-Clausen syndrome1 test
DYRK1A-related intellectual disability syndrome3 tests
Dyskinesia with orofacial involvement, autosomal dominant2 tests
Dystonia 123 tests
Dystonia 162 tests
Dystonia 231 test
Dystonia 241 test
Dystonia 251 test
Dystonia 272 tests
Dystonia 28, childhood-onset1 test
Dystonia 52 tests
Dystonia 93 tests
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2 tests
Early infantile epileptic encephalopathy with suppression bursts1 test
Early-onset generalized limb-onset dystonia1 test
Early-onset Lafora body disease1 test
Early-onset myopathy with fatal cardiomyopathy3 tests
Early-onset Parkinson disease 202 tests
Early-onset parkinsonism-intellectual disability syndrome1 test
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1 test
EAST syndrome4 tests
Ectodermal dysplasia 7, hair/nail type1 test
Ectopia lentis 1, isolated, autosomal dominant3 tests
Ectopia lentis 2, isolated, autosomal recessive1 test
Ectopia lentis et pupillae1 test
EEM syndrome1 test
EGFR-related lung cancer1 test
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome progeroid type1 test
Ehlers-Danlos syndrome type 7A1 test
Ehlers-Danlos syndrome, arthrochalasia type2 tests
Ehlers-danlos syndrome, arthrochalasia type, 23 tests
Ehlers-Danlos syndrome, cardiac valvular type3 tests
Ehlers-Danlos syndrome, classic type2 tests
Ehlers-Danlos syndrome, classic-like, 21 test
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, musculocontractural type 21 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, periodontal type 21 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
Ehlers-Danlos syndrome, type 42 tests
Ehlers-Danlos syndrome, type 4 variant1 test
Eichsfeld type congenital muscular dystrophy3 tests
Eiken syndrome1 test
Elevated circulating creatine kinase concentration1 test
Ellis-van Creveld syndrome3 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant3 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive3 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
Encephalopathy due to GLUT1 deficiency3 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
Endometrial carcinoma2 tests
Enhanced S-cone syndrome2 tests
Enlarged vestibular aqueduct syndrome1 test
Epidermal nevus1 test
Epidermolysis bullosa pruriginosa1 test
Epidermolysis bullosa simplex 1A, generalized severe1 test
Epidermolysis bullosa simplex 1C, localized1 test
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive1 test
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy3 tests
Epidermolysis bullosa simplex 5C, with pyloric atresia2 tests
Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
Epidermolysis bullosa simplex due to plakophilin deficiency1 test
Epidermolysis bullosa simplex with migratory circinate erythema1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolysis bullosa simplex with nail dystrophy2 tests
Epidermolysis bullosa simplex, Koebner type1 test
Epidermolysis bullosa simplex, Ogna type2 tests
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome2 tests
Epidermolytic ichthyosis3 tests
Epilepsy, childhood absence 21 test
Epilepsy, childhood absence, susceptibility to, 51 test
Epilepsy, childhood absence, susceptibility to, 61 test
Epilepsy, early-onset, vitamin B6-dependent1 test
Epilepsy, familial adult myoclonic, 51 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 41 test
Epilepsy, familial temporal lobe, 12 tests
Epilepsy, idiopathic generalized, susceptibility to, 101 test
Epilepsy, idiopathic generalized, susceptibility to, 123 tests
Epilepsy, idiopathic generalized, susceptibility to, 161 test
Epilepsy, idiopathic generalized, susceptibility to, 91 test
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Epileptic encephalopathy, infantile or early childhood, 11 test
Epileptic encephalopathy, infantile or early childhood, 21 test
Epileptic encephalopathy, infantile or early childhood, 31 test
Epiphyseal dysplasia, multiple, 22 tests
Epiphyseal dysplasia, multiple, 33 tests
Epiphyseal dysplasia, multiple, 62 tests
Epiphyseal dysplasia, multiple, 71 test
Episodic ataxia type 13 tests
Episodic ataxia type 21 test
Episodic ataxia type 51 test
Episodic ataxia type 62 tests
Episodic ataxia, type 91 test
Episodic kinesigenic dyskinesia1 test
Episodic kinesigenic dyskinesia 12 tests
Epithelial basement membrane dystrophy2 tests
Epithelial recurrent erosion dystrophy1 test
Erythropoietic protoporphyria1 test
Estrogen resistance syndrome1 test
Ethylmalonic encephalopathy1 test
Euthyroid goiter3 tests
Exercise-induced hyperinsulinism1 test
Exostoses, multiple, type 21 test
Exudative vitreoretinopathy 13 tests
Exudative vitreoretinopathy 2, X-linked2 tests
Exudative vitreoretinopathy 42 tests
Exudative vitreoretinopathy 52 tests
Exudative vitreoretinopathy 61 test
Fabry disease1 test
Fabry disease, cardiac variant1 test
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome2 tests
Facioscapulohumeral muscular dystrophy 21 test
Factor 5 and Factor VIII, combined deficiency of, 21 test
Factor H deficiency1 test
Factor V and factor VIII, combined deficiency of, type 11 test
Factor V deficiency2 tests
Factor X deficiency1 test
Factor XII deficiency disease1 test
Factor XIII, A subunit, deficiency of1 test
Familial adenomatous polyposis 13 tests
Familial adenomatous polyposis 24 tests
Familial adenomatous polyposis 31 test
Familial apolipoprotein C-II deficiency2 tests
Familial benign flecked retina1 test
Familial benign pemphigus1 test
Familial cancer of breast2 tests
Familial cavitary optic disk anomaly1 test
Familial colorectal cancer2 tests
Familial cylindromatosis1 test
Familial digital arthropathy-brachydactyly1 test
Familial dysautonomia1 test
Familial dysfibrinogenemia1 test
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial expansile osteolysis1 test
Familial focal epilepsy with variable foci1 test
Familial gestational hyperthyroidism3 tests
Familial hypercholesterolemia2 tests
Familial hyperinsulinism2 tests
Familial hyperkalemic periodic paralysis1 test
Familial hyperthyroidism due to mutations in TSH receptor1 test
Familial hypocalciuric hypercalcemia 14 tests
Familial hypocalciuric hypercalcemia 21 test
Familial hypokalemia-hypomagnesemia2 tests
Familial hypoparathyroidism1 test
Familial infantile myasthenia1 test
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 11 test
Familial Mediterranean fever1 test
Familial medullary thyroid carcinoma1 test
Familial meningioma1 test
Familial normokalemic periodic paralysis1 test
Familial partial lipodystrophy, Dunnigan type3 tests
Familial porphyria cutanea tarda2 tests
Familial pulmonary capillary hemangiomatosis1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
Familial temporal lobe epilepsy 51 test
Familial temporal lobe epilepsy 72 tests
Familial type 3 hyperlipoproteinemia1 test
Familial type 5 hyperlipoproteinemia2 tests
Familial visceral amyloidosis, Ostertag type1 test
Fanconi anemia complementation group A2 tests
Fanconi anemia complementation group B2 tests
Fanconi anemia complementation group C3 tests
Fanconi anemia complementation group D11 test
Fanconi anemia complementation group D22 tests
Fanconi anemia complementation group E2 tests
Fanconi anemia complementation group F2 tests
Fanconi anemia complementation group G2 tests
Fanconi anemia complementation group I2 tests
Fanconi anemia complementation group J1 test
Fanconi anemia complementation group L2 tests
Fanconi anemia complementation group N3 tests
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group P2 tests
Fanconi anemia complementation group Q1 test
Fanconi anemia complementation group U4 tests
Fanconi anemia, complementation group M2 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
Fanconi-Bickel syndrome1 test
Farber lipogranulomatosis2 tests
Fatal familial insomnia1 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Febrile seizures, familial, 11 test
Febrile seizures, familial, 41 test
Female infertility due to zona pellucida defect1 test
Fetal akinesia deformation sequence 11 test
Fetal akinesia deformation sequence 31 test
Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
FG syndrome 22 tests
FGFR2-related craniosynostosis1 test
Fibrochondrogenesis1 test
Fibrochondrogenesis 11 test
Fibrochondrogenesis 22 tests
Fibrosis of extraocular muscles, congenital, 22 tests
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement3 tests
Fibrosis of extraocular muscles, congenital, 3b1 test
Finnish congenital nephrotic syndrome1 test
Finnish type amyloidosis2 tests
Fleck corneal dystrophy2 tests
Focal dermal hypoplasia1 test
Focal segmental glomerulosclerosis 11 test
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
Foveal hypoplasia 11 test
Fragile X syndrome2 tests
Fragile X-associated tremor/ataxia syndrome2 tests
Fraser syndrome 11 test
Fraser syndrome 21 test
Fraser syndrome 31 test
Frasier syndrome2 tests
Friedreich ataxia1 test
Frontometaphyseal dysplasia1 test
Frontometaphyseal dysplasia 12 tests
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontotemporal dementia1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 33 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 63 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
Fructose-biphosphatase deficiency1 test
Fucosidosis1 test
Fumarase deficiency1 test
Galactosylceramide beta-galactosidase deficiency2 tests
Galloway-Mowat syndrome 14 tests
Galloway-Mowat syndrome 2, X-linked2 tests
Galloway-Mowat syndrome 32 tests
Galloway-Mowat syndrome 42 tests
Galloway-Mowat syndrome 52 tests
Galloway-Mowat syndrome 62 tests
Galloway-Mowat syndrome 72 tests
Galloway-Mowat syndrome 82 tests
Gamma-aminobutyric acid transaminase deficiency1 test
Gastrointestinal stromal tumor2 tests
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
Gaucher disease due to saposin C deficiency2 tests
Gaucher disease perinatal lethal2 tests
Gaucher disease type I2 tests
Gaucher disease type II2 tests
Gaucher disease type III2 tests
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome2 tests
Gelatinous droplike corneal dystrophy2 tests
Geleophysic dysplasia 21 test
Generalized dominant dystrophic epidermolysis bullosa1 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy with febrile seizures plus, type 71 test
Generalized epilepsy with febrile seizures plus, type 91 test
Generalized epilepsy-paroxysmal dyskinesia syndrome3 tests
Generalized juvenile polyposis/juvenile polyposis coli2 tests
Genitopatellar syndrome1 test
Genitourinary and/or brain malformation syndrome1 test
Geroderma osteodysplastica3 tests
Gerstmann-Straussler-Scheinker syndrome2 tests
Giant axonal neuropathy 11 test
GJB3-Related Erythrokeratodermia Variabilis1 test
GJB4-Related Erythrokeratodermia Variabilis1 test
Glanzmann thrombasthenia1 test
Glaucoma 1, open angle, A2 tests
Glaucoma 1, open angle, E1 test
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G1 test
Glaucoma 1, open angle, O1 test
Glaucoma 3, primary congenital, D2 tests
Glaucoma 3, primary infantile, B1 test
Glaucoma 3A1 test
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset1 test
Glaucoma, normal tension, susceptibility to1 test
Glioma susceptibility 13 tests
Globozoospermia1 test
Glucose-6-phosphate transport defect2 tests
Glutaric acidemia IIa1 test
Glutaric acidemia IIb3 tests
Glutaric acidemia IIc3 tests
Glutaric aciduria, type 14 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency2 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency2 tests
Glycogen storage disease due to muscle beta-enolase deficiency2 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency2 tests
Glycogen storage disease IIIa1 test
Glycogen storage disease IXa11 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease IXd2 tests
Glycogen storage disease type III2 tests
Glycogen storage disease type X2 tests
Glycogen storage disease XV2 tests
Glycogen storage disease, type II4 tests
Glycogen storage disease, type IV3 tests
Glycogen storage disease, type V2 tests
Glycogen storage disease, type VI1 test
Glycogen storage disease, type VII2 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
GM1 gangliosidosis type 22 tests
GM1 gangliosidosis type 32 tests
GM3 synthase deficiency1 test
Gnathodiaphyseal dysplasia3 tests
GNE myopathy2 tests
GNPTG-mucolipidosis2 tests
Goldberg-Shprintzen syndrome2 tests
Gorlin syndrome2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
Greenberg dysplasia1 test
Greig cephalopolysyndactyly syndrome1 test
Griscelli syndrome type 22 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Groenouw corneal dystrophy type I2 tests
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1 test
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
GTP cyclohydrolase I deficiency1 test
H syndrome1 test
Haim-Munk syndrome1 test
Hajdu-Cheney syndrome4 tests
Hartsfield-Bixler-Demyer syndrome1 test
Hearing loss, autosomal recessive1 test
Hearing loss, autosomal recessive 941 test
Hearing loss, X-linked 41 test
Hearing loss, X-linked 62 tests
Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
Heart-hand syndrome, Slovenian type2 tests
Helicoid peripapillary chorioretinal degeneration1 test
Hemochromatosis type 12 tests
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hemorrhage, intracerebral, susceptibility to1 test
Hepatic adenomas, familial1 test
Hepatocellular carcinoma1 test
Hereditary angioedema type 31 test
Hereditary antithrombin deficiency2 tests
Hereditary coproporphyria1 test
Hereditary cryohydrocytosis with reduced stomatin3 tests
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary diffuse leukoencephalopathy with spheroids2 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor VIII deficiency disease1 test
Hereditary factor XI deficiency disease2 tests
Hereditary hyperferritinemia with congenital cataracts3 tests
Hereditary intrinsic factor deficiency1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy with optic atrophy2 tests
Hereditary motor and sensory neuropathy, Okinawa type1 test
Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
Hereditary nonpolyposis colon cancer1 test
Hereditary pancreatitis1 test
Hereditary pheochromocytoma-paraganglioma1 test
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary sideroblastic anemia2 tests
Hereditary spastic paraplegia 102 tests
Hereditary spastic paraplegia 112 tests
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 171 test
Hereditary spastic paraplegia 181 test
Hereditary spastic paraplegia 22 tests
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 311 test
Hereditary spastic paraplegia 352 tests
Hereditary spastic paraplegia 392 tests
Hereditary spastic paraplegia 3A1 test
Hereditary spastic paraplegia 42 tests
Hereditary spastic paraplegia 431 test
Hereditary spastic paraplegia 442 tests
Hereditary spastic paraplegia 461 test
Hereditary spastic paraplegia 472 tests
Hereditary spastic paraplegia 481 test
Hereditary spastic paraplegia 491 test
Hereditary spastic paraplegia 503 tests
Hereditary spastic paraplegia 512 tests
Hereditary spastic paraplegia 531 test
Hereditary spastic paraplegia 541 test
Hereditary spastic paraplegia 561 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 72 tests
Hereditary spastic paraplegia 741 test
Hereditary spastic paraplegia 771 test
Hereditary spastic paraplegia 81 test
Hereditary spastic paraplegia 9A1 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12 tests
Hermansky-Pudlak syndrome 12 tests
Hermansky-Pudlak syndrome 102 tests
Hermansky-Pudlak syndrome 23 tests
Hermansky-Pudlak syndrome 32 tests
Hermansky-Pudlak syndrome 42 tests
Hermansky-Pudlak syndrome 52 tests
Hermansky-Pudlak syndrome 62 tests
Hermansky-Pudlak syndrome 72 tests
Hermansky-Pudlak syndrome 82 tests
Hermansky-Pudlak syndrome 92 tests
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 5, autosomal1 test
Heterotopia, periventricular, X-linked dominant4 tests
Hidrotic ectodermal dysplasia syndrome1 test
Histiocytic medullary reticulosis1 test
HNSHA due to aldolase A deficiency2 tests
Holoprosencephaly 111 test
Holoprosencephaly 13, X-linked1 test
Holoprosencephaly 21 test
Holoprosencephaly 31 test
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly sequence1 test
Holt-Oram syndrome1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency3 tests
HSD10 mitochondrial disease1 test
Hurler syndrome3 tests
Hydatidiform mole, recurrent, 31 test
Hydrocephalus, congenital, 3, with brain anomalies1 test
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome1 test
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 31 test
Hyperammonemia, type III1 test
Hyperinsulinemic hypoglycemia, familial, 13 tests
Hyperinsulinemic hypoglycemia, familial, 21 test
Hyperinsulinemic hypoglycemia, familial, 42 tests
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism-hyperammonemia syndrome2 tests
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type 1D1 test
Hyperlipoproteinemia, type I2 tests
Hyperlysinemia1 test
Hypermanganesemia with dystonia 21 test
Hypermanganesemia with dystonia, polycythemia, and cirrhosis2 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperparathyroidism 11 test
Hyperparathyroidism 2 with jaw tumors1 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hyperproinsulinemia1 test
Hypertriglyceridemia 11 test
Hypertrophic cardiomyopathy 17 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 113 tests
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 132 tests
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 152 tests
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 183 tests
Hypertrophic cardiomyopathy 191 test
Hypertrophic cardiomyopathy 23 tests
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 253 tests
Hypertrophic cardiomyopathy 262 tests
Hypertrophic cardiomyopathy 33 tests
Hypertrophic cardiomyopathy 43 tests
Hypertrophic cardiomyopathy 62 tests
Hypertrophic cardiomyopathy 72 tests
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 95 tests
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
Hyperuricemic nephropathy, familial juvenile type 41 test
Hypochondrogenesis1 test
Hypochondroplasia3 tests
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Hypogonadotropic hypogonadism 10 with or without anosmia2 tests
Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
Hypogonadotropic hypogonadism 12 with or without anosmia1 test
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia2 tests
Hypogonadotropic hypogonadism 15 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia2 tests
Hypogonadotropic hypogonadism 17 with or without anosmia1 test
Hypogonadotropic hypogonadism 18 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia2 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 anosmia2 tests
Hypogonadotropic hypogonadism 3 with or without anosmia1 test
Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
Hypogonadotropic hypogonadism 6 with or without anosmia2 tests
Hypogonadotropic hypogonadism 7 with or without anosmia3 tests
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
Hypokalemic periodic paralysis, type 11 test
Hypokalemic periodic paralysis, type 22 tests
Hypomagnesemia, seizures, and intellectual disability 11 test
Hypomyelinating leukodystrophy 21 test
Hypomyelinating leukodystrophy 31 test
Hypomyelinating leukodystrophy 41 test
Hypomyelinating leukodystrophy 62 tests
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism3 tests
Hypomyelination and Congenital Cataract1 test
Hypoparathyroidism, familial isolated, 21 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypophosphatasia1 test
Hypopigmentation, organomegaly, and delayed myelination and development2 tests
Hypoplastic left heart syndrome 21 test
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration2 tests
Hypospadias 2, X-linked1 test
Hypothalamic hypothyroidism2 tests
Hypothyroidism due to TSH receptor mutations3 tests
Hypothyroidism, congenital, nongoitrous, 22 tests
Hypothyroidism, congenital, nongoitrous, 53 tests
Hypothyroidism, congenital, nongoitrous, 73 tests
Hypothyroidism, congenital, nongoitrous, 82 tests
Hypothyroidism, congenital, nongoitrous, 91 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
Hypotrichosis 11 test
Hypotrichosis 111 test
Hypotrichosis 121 test
Hypotrichosis 131 test
Hypotrichosis 23 tests
Hypotrichosis 31 test
Hypotrichosis 41 test
Hypotrichosis 61 test
Hypotrichosis 71 test
Hypotrichosis 81 test
Ichthyosis bullosa of Siemens1 test
Ichthyosis hystrix of Curth-Macklin3 tests
Ichthyosis prematurity syndrome1 test
Ichthyosis vulgaris1 test
Ichthyosis, congenital, autosomal recessive 121 test
Ichthyosis, congenital, autosomal recessive 131 test
Ichthyosis, hystrix-like, with hearing loss1 test
Idiopathic CD4 lymphocytopenia1 test
IFAP syndrome 1, with or without BRESHECK syndrome2 tests
IMAGe syndrome1 test
Imerslund-Grasbeck syndrome1 test
Immunodeficiency 1041 test
Immunodeficiency 11b with atopic dermatitis1 test
Immunodeficiency 15a1 test
Immunodeficiency 18, severe combined immunodeficiency variant1 test
Immunodeficiency 191 test
Immunodeficiency 232 tests
Immunodeficiency 251 test
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia2 tests
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia2 tests
Immunodeficiency due to CD25 deficiency1 test
Immunodeficiency due to defect in CD3-gamma1 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
Inborn mitochondrial myopathy1 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia1 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Infantile cerebellar-retinal degeneration2 tests
Infantile convulsions and choreoathetosis2 tests
Infantile cortical hyperostosis3 tests
Infantile GM1 gangliosidosis2 tests
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1 test
Infantile hypophosphatasia1 test
Infantile liver failure syndrome 11 test
Infantile nephronophthisis4 tests
Infantile onset spinocerebellar ataxia1 test
Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
Inherited Creutzfeldt-Jakob disease1 test
Inherited glutathione synthetase deficiency1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3 tests
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
Intellectual developmental disorder, autosomal recessive 741 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 132 tests
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 341 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 511 test
Intellectual disability, autosomal dominant 61 test
Intellectual disability, autosomal dominant 82 tests
Intellectual disability, autosomal dominant 91 test
Intellectual disability, autosomal recessive 131 test
Intellectual disability, autosomal recessive 31 test
Intellectual disability, autosomal recessive 571 test
Intellectual disability, autosomal recessive 661 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 1021 test
Intellectual disability, X-linked 961 test
Intellectual disability, X-linked syndromic, Turner type1 test
Intellectual disability, X-linked, syndromic 331 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Intellectual disability, X-linked, with panhypopituitarism2 tests
Intervertebral disc disorder2 tests
Intestinal hypomagnesemia 11 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
Iodotyrosine deiodination defect2 tests
Iodotyrosyl coupling defect2 tests
Irido-corneo-trabecular dysgenesis2 tests
Isolated focal cortical dysplasia type II1 test
Isolated focal non-epidermolytic palmoplantar keratoderma1 test
Isolated growth hormone deficiency type IB1 test
Isolated growth hormone deficiency, type 41 test
Isolated lutropin deficiency2 tests
Isolated microphthalmia 23 tests
Isolated microphthalmia 31 test
Isolated microphthalmia 42 tests
Isolated microphthalmia 52 tests
Isolated microphthalmia 62 tests
Isolated microphthalmia 72 tests
Isolated microphthalmia 81 test
Isolated neonatal sclerosing cholangitis2 tests
Isolated optic nerve hypoplasia3 tests
Isolated thyroid-stimulating hormone deficiency3 tests
Isovaleryl-CoA dehydrogenase deficiency1 test
Jackson-Weiss syndrome1 test
Jalili syndrome1 test
Jawad syndrome2 tests
Jervell and Lange-Nielsen syndrome 12 tests
Jervell and Lange-Nielsen syndrome 22 tests
Joubert syndrome 13 tests
Joubert syndrome 106 tests
Joubert syndrome 121 test
Joubert syndrome 134 tests
Joubert syndrome 144 tests
Joubert syndrome 154 tests
Joubert syndrome 164 tests
Joubert syndrome 174 tests
Joubert syndrome 184 tests
Joubert syndrome 193 tests
Joubert syndrome 25 tests
Joubert syndrome 204 tests
Joubert syndrome 214 tests
Joubert syndrome 223 tests
Joubert syndrome 232 tests
Joubert syndrome 244 tests
Joubert syndrome 252 tests
Joubert syndrome 261 test
Joubert syndrome 273 tests
Joubert syndrome 283 tests
Joubert syndrome 35 tests
Joubert syndrome 311 test
Joubert syndrome 342 tests
Joubert syndrome 56 tests
Joubert syndrome 65 tests
Joubert syndrome 75 tests
Joubert syndrome 84 tests
Joubert syndrome 95 tests
Joubert syndrome with renal defect6 tests
Juberg-Marsidi syndrome2 tests
Junctional epidermolysis bullosa gravis of Herlitz1 test
Junctional epidermolysis bullosa with pyloric atresia1 test
Junctional epidermolysis bullosa, non-Herlitz type1 test
Juvenile cataract-microcornea-renal glucosuria syndrome1 test
Juvenile myelomonocytic leukemia1 test
Juvenile onset Parkinson disease 19A1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
Juvenile retinitis pigmentosa, AIPL1-related2 tests
Juvenile retinoschisis3 tests
Kabuki syndrome 12 tests
Kabuki syndrome 21 test
Kartagener syndrome3 tests
KBG syndrome1 test
Keratoconus 12 tests
Keratosis follicularis1 test
Keratosis follicularis spinulosa decalvans, X-linked2 tests
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
Keratosis palmoplantaris striata 21 test
Keratosis palmoplantaris striata 33 tests
Ketoacidosis due to monocarboxylate transporter-1 deficiency1 test
Kindler syndrome1 test
Klinefelter syndrome1 test
Klippel-Feil syndrome 3, autosomal dominant1 test
Kniest dysplasia1 test
Knobloch syndrome4 tests
Koolen-de Vries syndrome1 test
Kostmann syndrome1 test
Krabbe disease due to saposin A deficiency2 tests
Kufor-Rakeb syndrome2 tests
L-2-hydroxyglutaric aciduria1 test
L-ferritin deficiency1 test
LAMB2-related infantile-onset nephrotic syndrome2 tests
LAMP2-Related Cardiomyopathy1 test
Landau-Kleffner syndrome1 test
Langer mesomelic dysplasia syndrome1 test
Laron-type isolated somatotropin defect1 test
Larsen syndrome1 test
Larsen-like syndrome, B3GAT3 type1 test
Laryngo-onycho-cutaneous syndrome1 test
Late-onset retinal degeneration1 test
Lateral meningocele syndrome2 tests
Lattice corneal dystrophy Type I2 tests
LCAT deficiency1 test
Leber congenital amaurosis 12 tests
Leber congenital amaurosis 106 tests
Leber congenital amaurosis 112 tests
Leber congenital amaurosis 122 tests
Leber congenital amaurosis 134 tests
Leber congenital amaurosis 142 tests
Leber congenital amaurosis 152 tests
Leber congenital amaurosis 163 tests
Leber congenital amaurosis 172 tests
Leber congenital amaurosis 22 tests
Leber congenital amaurosis 32 tests
Leber congenital amaurosis 43 tests
Leber congenital amaurosis 53 tests
Leber congenital amaurosis 63 tests
Leber congenital amaurosis 73 tests
Leber congenital amaurosis 83 tests
Leber congenital amaurosis 92 tests
Leber optic atrophy1 test
Left ventricular noncompaction 13 tests
Left ventricular noncompaction 102 tests
Left ventricular noncompaction 71 test
Left ventricular noncompaction 81 test
Left-right axis malformations1 test
Legg-Calve-Perthes disease1 test
Legius syndrome2 tests
Lenz-Majewski hyperostosis syndrome1 test
LEOPARD syndrome 21 test
Leri-Weill dyschondrosteosis1 test
Lethal acantholytic epidermolysis bullosa1 test
Lethal congenital glycogen storage disease of heart2 tests
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
Lethal Kniest-like syndrome1 test
Lethal multiple pterygium syndrome1 test
Lethal osteosclerotic bone dysplasia1 test
Leucine-induced hypoglycemia2 tests
Leukocyte adhesion deficiency type II1 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
Leukoencephalopathy with mild cerebellar ataxia and white matter edema2 tests
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome2 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
Levy-Hollister syndrome1 test
Lewy body dementia1 test
Lhermitte-Duclos disease1 test
Li-Fraumeni syndrome1 test
Li-Fraumeni syndrome 13 tests
Li-Fraumeni syndrome 21 test
Lichtenstein-Knorr syndrome1 test
Liddle syndrome1 test
Liddle syndrome 21 test
Liddle syndrome 31 test
Limb-girdle muscular dystrophy due to POMK deficiency3 tests
Linear skin defects with multiple congenital anomalies 12 tests
Linear skin defects with multiple congenital anomalies 31 test
Lipase deficiency, combined1 test
Lipoic acid synthetase deficiency2 tests
Lipoyl transferase 1 deficiency1 test
Lissencephaly 42 tests
Lissencephaly due to LIS1 mutation1 test
Lissencephaly due to TUBA1A mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation2 tests
Loeys-Dietz syndrome 13 tests
Loeys-Dietz syndrome 23 tests
Loeys-Dietz syndrome 42 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
Long QT syndrome 102 tests
Long QT syndrome 112 tests
Long QT syndrome 122 tests
Long QT syndrome 131 test
Long QT syndrome 141 test
Long QT syndrome 22 tests
Long QT syndrome 33 tests
Long QT syndrome 41 test
Long QT syndrome 52 tests
Long QT syndrome 62 tests
Long QT syndrome 93 tests
Loricrin keratoderma1 test
Luteinizing hormone resistance, female1 test
Lymphangiomyomatosis3 tests
Lymphatic malformation 71 test
Lynch syndrome 16 tests
Lynch syndrome 56 tests
Lynch syndrome 83 tests
Lysinuric protein intolerance1 test
Macrocephaly-autism syndrome1 test
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1 test
Macular corneal dystrophy2 tests
Macular corneal dystrophy, type II1 test
Macular degeneration, age-related, 31 test
Macular degeneration, X-linked atrophic2 tests
Macular dystrophy with central cone involvement1 test
Malignant hyperthermia, susceptibility to, 13 tests
Malignant hyperthermia, susceptibility to, 51 test
Malignant tumor of breast1 test
Malignant tumor of esophagus1 test
Malignant tumor of prostate2 tests
Malignant tumor of testis1 test
Malignant tumor of urinary bladder1 test
Mandibuloacral dysplasia with type A lipodystrophy2 tests
Mandibulofacial dysostosis-microcephaly syndrome2 tests
Maple syrup urine disease type 1B1 test
Marden-Walker syndrome1 test
Marfan syndrome2 tests
Marinesco-Sjögren syndrome2 tests
Marshall syndrome3 tests
Martsolf syndrome1 test
MASA syndrome1 test
MASS syndrome2 tests
Mast syndrome1 test
Matthew-Wood syndrome2 tests
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 132 tests
Maturity-onset diabetes of the young type 22 tests
Maturity-onset diabetes of the young type 32 tests
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
McCune-Albright syndrome1 test
McKusick-Kaufman syndrome2 tests
Meacham syndrome1 test
Meckel syndrome, type 14 tests
Meckel syndrome, type 103 tests
Meckel syndrome, type 113 tests
Meckel syndrome, type 24 tests
Meckel syndrome, type 35 tests
Meckel syndrome, type 45 tests
Meckel syndrome, type 55 tests
Meckel syndrome, type 65 tests
Meckel syndrome, type 82 tests
Meckel syndrome, type 92 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
MEDNIK syndrome1 test
Medulloblastoma1 test
Meesmann corneal dystrophy2 tests
Megaconial type congenital muscular dystrophy1 test
Megalencephalic leukoencephalopathy with subcortical cysts1 test
Megalencephalic leukoencephalopathy with subcortical cysts 2A1 test
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1 test
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
MEGF10-related myopathy1 test
Meier-Gorlin syndrome 11 test
Meier-Gorlin syndrome 22 tests
Meier-Gorlin syndrome 32 tests
Meier-Gorlin syndrome 42 tests
Meier-Gorlin syndrome 52 tests
Meier-Gorlin syndrome 62 tests
Meier-Gorlin syndrome 72 tests
Meier-Gorlin syndrome 82 tests
Melanoma and neural system tumor syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 12 tests
Melanoma, cutaneous malignant, susceptibility to, 22 tests
Melanoma, cutaneous malignant, susceptibility to, 32 tests
Melanoma, cutaneous malignant, susceptibility to, 52 tests
Melanoma, cutaneous malignant, susceptibility to, 61 test
Melanoma, cutaneous malignant, susceptibility to, 82 tests
Melanoma, cutaneous malignant, susceptibility to, 91 test
Melanoma-pancreatic cancer syndrome1 test
Melnick-Fraser syndrome2 tests
Melnick-Needles syndrome3 tests
MEND syndrome1 test
Menke-Hennekam syndrome 11 test
Menke-Hennekam syndrome 22 tests
Menkes kinky-hair syndrome3 tests
Merosin deficient congenital muscular dystrophy3 tests
Mesothelioma, malignant1 test
Metabolic myopathy due to lactate transporter defect1 test
Metachromatic leukodystrophy4 tests
Metaphyseal anadysplasia 21 test
Metaphyseal chondrodysplasia, Jansen type1 test
Metaphyseal chondrodysplasia, McKusick type1 test
Metaphyseal chondrodysplasia, Spahr type1 test
Metaphyseal dysplasia without hypotrichosis1 test
Metatropic dysplasia1 test
Methylcobalamin deficiency type cblE1 test
Methylcobalamin deficiency type cblG1 test
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
Methylmalonic acidemia due to transcobalamin receptor defect1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic aciduria and homocystinuria type cblD1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria, cblA type1 test
Methylmalonic aciduria, cblB type1 test
METHYLMALONIC ACIDURIA, mut(0) TYPE1 test
Mevalonic aciduria1 test
MGAT2-congenital disorder of glycosylation1 test
MHC class II deficiency1 test
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1 test
Microcephalic osteodysplastic primordial dwarfism type II2 tests
Microcephalic primordial dwarfism due to RTTN deficiency2 tests
Microcephalic primordial dwarfism due to ZNF335 deficiency2 tests
Microcephaly 1, primary, autosomal recessive2 tests
Microcephaly 11, primary, autosomal recessive2 tests
Microcephaly 12, primary, autosomal recessive2 tests
Microcephaly 13, primary, autosomal recessive2 tests
Microcephaly 14, primary, autosomal recessive2 tests
Microcephaly 15, primary, autosomal recessive1 test
Microcephaly 16, primary, autosomal recessive2 tests
Microcephaly 17, primary, autosomal recessive2 tests
Microcephaly 18, primary, autosomal dominant2 tests
Microcephaly 19, primary, autosomal recessive1 test
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
Microcephaly 20, primary, autosomal recessive2 tests
Microcephaly 21, primary, autosomal recessive2 tests
Microcephaly 22, primary, autosomal recessive2 tests
Microcephaly 23, primary, autosomal recessive2 tests
Microcephaly 24, primary, autosomal recessive2 tests
Microcephaly 3, primary, autosomal recessive2 tests
Microcephaly 4, primary, autosomal recessive2 tests
Microcephaly 5, primary, autosomal recessive2 tests
Microcephaly 6, primary, autosomal recessive2 tests
Microcephaly 7, primary, autosomal recessive2 tests
Microcephaly 8, primary, autosomal recessive2 tests
Microcephaly 9, primary, autosomal recessive2 tests
Microcephaly and chorioretinopathy 11 test
Microcephaly and chorioretinopathy 22 tests
Microcephaly and chorioretinopathy 32 tests
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability4 tests
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum1 test
Microcephaly, epilepsy, and diabetes syndrome3 tests
Microcephaly, growth deficiency, seizures, and brain malformations1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcephaly, seizures, and developmental delay3 tests
Microcephaly, short stature, and impaired glucose metabolism 11 test
Microcephaly, short stature, and limb abnormalities1 test
Microcephaly-capillary malformation syndrome2 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Microcephaly-micromelia syndrome1 test
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma1 test
Microcornea-myopic chorioretinal atrophy1 test
Microphthalmia with brain and digit anomalies3 tests
Microphthalmia with limb anomalies2 tests
Microphthalmia, cataracts, and iris abnormalities1 test
Microphthalmia, isolated, with coloboma 101 test
Microphthalmia, isolated, with coloboma 33 tests
Microphthalmia, isolated, with coloboma 51 test
Microphthalmia, isolated, with coloboma 62 tests
Microphthalmia, isolated, with coloboma 72 tests
Microphthalmia, isolated, with coloboma 91 test
Microphthalmia, syndromic 12 tests
Microphthalmia, syndromic 112 tests
Microphthalmia, syndromic 121 test
Microspherophakia2 tests
Microvascular complications of diabetes, susceptibility to, 71 test
Migraine, familial hemiplegic, 12 tests
Migraine, familial hemiplegic, 22 tests
Migraine, familial hemiplegic, 32 tests
Migraine, with or without aura, susceptibility to, 131 test
Mismatch repair cancer syndrome 13 tests
Mismatch repair cancer syndrome 21 test
Mismatch repair cancer syndrome 31 test
Mitochondrial complex 1 deficiency, nuclear type 171 test
Mitochondrial complex 1 deficiency, nuclear type 261 test
Mitochondrial complex 1 deficiency, nuclear type 291 test
Mitochondrial complex 1 deficiency, nuclear type 301 test
Mitochondrial complex I deficiency2 tests
Mitochondrial complex III deficiency nuclear type 22 tests
Mitochondrial complex III deficiency nuclear type 51 test
Mitochondrial complex III deficiency nuclear type 61 test
Mitochondrial complex III deficiency nuclear type 71 test
Mitochondrial complex III deficiency nuclear type 81 test
Mitochondrial complex III deficiency nuclear type 91 test
Mitochondrial complex IV deficiency, nuclear type 11 test
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B1 test
Mitochondrial disease1 test
Mitochondrial DNA deletion syndrome with progressive myopathy3 tests
Mitochondrial DNA depletion syndrome 12 tests
Mitochondrial DNA depletion syndrome 111 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 131 test
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 4b3 tests
Mitochondrial DNA depletion syndrome 8a1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria2 tests
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Mitochondrial pyruvate carrier deficiency1 test
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
Mitochondrial trifunctional protein deficiency2 tests
Miyoshi muscular dystrophy 12 tests
Miyoshi muscular dystrophy 33 tests
MOGS-congenital disorder of glycosylation1 test
Monocytopenia with susceptibility to infections1 test
MORM syndrome2 tests
Mowat-Wilson syndrome3 tests
MPDU1-congenital disorder of glycosylation1 test
MPI-congenital disorder of glycosylation1 test
MTHFR THERMOLABILE POLYMORPHISM1 test
Mucolipidosis type II1 test
Mucolipidosis type IV2 tests
Mucopolysaccharidosis type 62 tests
Mucopolysaccharidosis type 72 tests
Mucopolysaccharidosis, MPS-I-H/S3 tests
Mucopolysaccharidosis, MPS-I-S3 tests
Mucopolysaccharidosis, MPS-II2 tests
Mucopolysaccharidosis, MPS-III-A2 tests
Mucopolysaccharidosis, MPS-III-B2 tests
Mucopolysaccharidosis, MPS-III-C2 tests
Mucopolysaccharidosis, MPS-III-D2 tests
Mucopolysaccharidosis, MPS-IV-A2 tests
Mucopolysaccharidosis, MPS-IV-B2 tests
Muenke syndrome2 tests
Muir-Torré syndrome3 tests
Mulibrey nanism syndrome1 test
Mullegama-Klein-Martinez syndrome1 test
Multiple acyl-CoA dehydrogenase deficiency3 tests
Multiple benign circumferential skin creases on limbs 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple congenital exostosis1 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple endocrine neoplasia, type 13 tests
Multiple endocrine neoplasia, type 21 test
Multiple epiphyseal dysplasia type 12 tests
Multiple epiphyseal dysplasia type 41 test
Multiple epiphyseal dysplasia type 51 test
Multiple epiphyseal dysplasia, Beighton type1 test
Multiple gastrointestinal atresias1 test
Multiple mitochondrial dysfunctions syndrome 31 test
Multiple mitochondrial dysfunctions syndrome 41 test
Multiple myeloma1 test
Multiple sulfatase deficiency3 tests
Multiple system atrophy1 test
Mungan syndrome1 test
Muscle AMP deaminase deficiency1 test
Muscle eye brain disease2 tests
Muscular dystrophy, limb-girdle, autosomal recessive 232 tests
Muscular dystrophy-dystroglycanopathy1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 123 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 44 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 73 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 83 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A132 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A144 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A22 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A53 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A62 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A93 tests
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 151 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B13 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B144 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B22 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B33 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B44 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 82 tests
Muscular dystrophy-dystroglycanopathy type B53 tests
Muscular dystrophy-dystroglycanopathy type B62 tests
Mutilating keratoderma1 test
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myasthenic syndrome, congenital, 221 test
Myasthenic syndrome, congenital, 25, presynaptic1 test
Myasthenic syndrome, slow-channel congenital1 test
Myelodysplastic syndrome1 test
MYH7-related skeletal myopathy2 tests
Myoclonic dystonia 111 test
Myoclonic dystonia 261 test
Myoclonic epilepsy of Lafora 21 test
Myoclonic-astatic epilepsy1 test
Myoclonus, familial, 11 test
Myofibrillar myopathy1 test
Myofibrillar myopathy 22 tests
Myofibrillar myopathy 32 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 52 tests
Myofibrillar myopathy 61 test
Myofibromatosis, infantile, 21 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myopathy with abnormal lipid metabolism1 test
Myopathy, distal, with rimmed vacuoles1 test
Myopathy, lactic acidosis, and sideroblastic anemia1 test
Myopathy, lactic acidosis, and sideroblastic anemia 21 test
Myopathy, myofibrillar, 9, with early respiratory failure3 tests
Myopathy, myosin storage, autosomal recessive2 tests
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopathy, tubular aggregate, 11 test
Myopathy, tubular aggregate, 21 test
Myopia 21, autosomal dominant1 test
Myopia, high, with cataract and vitreoretinal degeneration2 tests
Myosclerosis1 test
Myosin storage myopathy2 tests
Naegeli-Franceschetti-Jadassohn syndrome1 test
Nail-patella syndrome1 test
Namaqualand hip dysplasia1 test
Nance-Horan syndrome1 test
Nanophthalmos 21 test
Nasopharyngeal carcinoma1 test
Naxos disease4 tests
NDE1-related microhydranencephaly1 test
Nemaline myopathy 101 test
Nemaline myopathy 22 tests
Nemaline myopathy 51 test
Nemaline myopathy 71 test
Nemaline myopathy 81 test
Nemaline myopathy 91 test
Neonatal diabetes mellitus with congenital hypothyroidism1 test
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neonatal pseudo-hydrocephalic progeroid syndrome1 test
Neonatal severe primary hyperparathyroidism3 tests
Neonatal-onset encephalopathy with rigidity and seizures1 test
Neoplasm of stomach1 test
Nephroblastoma1 test
Nephronophthisis 13 tests
Nephronophthisis 112 tests
Nephronophthisis 124 tests
Nephronophthisis 134 tests
Nephronophthisis 142 tests
Nephronophthisis 152 tests
Nephronophthisis 163 tests
Nephronophthisis 182 tests
Nephronophthisis 192 tests
Nephronophthisis 34 tests
Nephronophthisis 42 tests
Nephronophthisis 72 tests
Nephronophthisis 81 test
Nephronophthisis 92 tests
Nephronophthisis-like nephropathy 12 tests
Nephropathic cystinosis1 test
Nephrotic syndrome, type 101 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 42 tests
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 91 test
Netherton syndrome1 test
Neu-Laxova syndrome 12 tests
Neu-Laxova syndrome 22 tests
Neuroblastoma1 test
Neuroblastoma, susceptibility to, 21 test
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset2 tests
Neurodegeneration with brain iron accumulation1 test
Neurodegeneration with brain iron accumulation 2B2 tests
Neurodegeneration with brain iron accumulation 43 tests
Neurodegeneration with brain iron accumulation 52 tests
Neurodegeneration with brain iron accumulation 61 test
Neurodevelopmental disorder with absent language and variable seizures2 tests
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination3 tests
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity1 test
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1 test
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1 test
Neurodevelopmental disorder with poor language and loss of hand skills1 test
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1 test
Neurodevelopmental disorder with visual defects and brain anomalies1 test
Neuroferritinopathy2 tests
Neurofibromatosis, familial spinal2 tests
Neurofibromatosis, type 12 tests
Neurofibromatosis, type 22 tests
Neurofibromatosis-Noonan syndrome3 tests
Neurogenic scapuloperoneal syndrome, Kaeser type2 tests
Neuronal ceroid lipofuscinosis 13 tests
Neuronal ceroid lipofuscinosis 102 tests
Neuronal ceroid lipofuscinosis 111 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 23 tests
Neuronal ceroid lipofuscinosis 33 tests
Neuronal ceroid lipofuscinosis 53 tests
Neuronal ceroid lipofuscinosis 72 tests
Neuronal ceroid lipofuscinosis 83 tests
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant2 tests
Neuronopathy, distal hereditary motor, autosomal dominant 11 test
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Neuronopathy, distal hereditary motor, autosomal recessive 41 test
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2B1 test
Neuronopathy, distal hereditary motor, type 2C1 test
Neuronopathy, distal hereditary motor, type 5A2 tests
Neuronopathy, distal hereditary motor, type 5B1 test
Neuronopathy, distal hereditary motor, type 7A2 tests
Neuronopathy, distal hereditary motor, type 7B1 test
Neuronopathy, distal hereditary motor, type 91 test
Neuropathy, hereditary motor and sensory, type 6B3 tests
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neuropathy, hereditary sensory and autonomic, type 2A2 tests
Neuropathy, hereditary sensory, type 2C1 test
Neutral lipid storage myopathy2 tests
Neutropenia, severe congenital, 1, autosomal dominant1 test
Neutropenia, severe congenital, 2, autosomal dominant1 test
Neutropenia, severe congenital, 8, autosomal dominant1 test
Neutrophil immunodeficiency syndrome2 tests
Newfoundland cone-rod dystrophy1 test
Nicolaides-Baraitser syndrome1 test
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C22 tests
Niemann-Pick disease, type D1 test
Nijmegen breakage syndrome-like disorder3 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities2 tests
Non-Hodgkin lymphoma1 test
Non-ketotic hyperglycinemia2 tests
Nonimmune chronic idiopathic neutropenia of adults1 test
Nonpapillary renal cell carcinoma4 tests
Nonsyndromic congenital nail disorder 81 test
Noonan syndrome1 test
Noonan syndrome 11 test
Noonan syndrome 102 tests
Noonan syndrome 111 test
Noonan syndrome 121 test
Noonan syndrome 31 test
Noonan syndrome 42 tests
Noonan syndrome 52 tests
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair1 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Norman-Roberts syndrome1 test
NPHP3-related Meckel-like syndrome3 tests
Nuclear pulverulent cataract2 tests
Nystagmus 6, congenital, X-linked1 test
Occipital pachygyria and polymicrogyria1 test
Occult macular dystrophy1 test
Ocular albinism with congenital sensorineural hearing loss2 tests
Ocular albinism, type I2 tests
Ocular albinism, type II1 test
Ocular cystinosis1 test
Oculoauricular syndrome1 test
Oculocutaneous albinism type 12 tests
Oculocutaneous albinism type 1B2 tests
Oculocutaneous albinism type 32 tests
Oculocutaneous albinism type 42 tests
Oculocutaneous albinism type 51 test
Oculocutaneous albinism type 71 test
Oculodentodigital dysplasia2 tests
Oculodentodigital dysplasia, autosomal recessive2 tests
Oculofaciocardiodental syndrome3 tests
Oculotrichoanal syndrome2 tests
Oguchi disease2 tests
Oguchi disease-23 tests
Okur-Chung neurodevelopmental syndrome1 test
Olmsted syndrome 11 test
Olmsted syndrome, X-linked2 tests
Oocyte maturation defect 21 test
Opsismodysplasia1 test
Optic atrophy 32 tests
Optic atrophy 91 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Ornithine aminotransferase deficiency2 tests
Ornithine carbamoyltransferase deficiency2 tests
Orofacial cleft 111 test
Orofacial-digital syndrome IV2 tests
Orofaciodigital syndrome I3 tests
Orofaciodigital syndrome type 142 tests
Orofaciodigital syndrome type 63 tests
Osteoarthritis of distal interphalangeal joint1 test
Osteocraniostenosis2 tests
Osteogenesis imperfecta type 102 tests
Osteogenesis imperfecta type 112 tests
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 142 tests
Osteogenesis imperfecta type 152 tests
Osteogenesis imperfecta type 161 test
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 72 tests
Osteogenesis imperfecta type 82 tests
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I3 tests
Osteogenesis imperfecta type III3 tests
Osteogenesis imperfecta with normal sclerae, dominant form3 tests
Osteogenesis imperfecta, perinatal lethal3 tests
Osteogenesis imperfecta, type 181 test
Osteogenesis imperfecta, type 192 tests
Osteogenesis imperfecta, type 201 test
Osteogenesis imperfecta, type 211 test
Osteogenesis imperfecta, type III/IV1 test
Osteopetrosis with renal tubular acidosis2 tests
Osteopetrosis, autosomal dominant 31 test
Osteoporosis with pseudoglioma3 tests
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
Otitis media, susceptibility to1 test
Oto-palato-digital syndrome, type I3 tests
Oto-palato-digital syndrome, type II3 tests
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant4 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
Ovarian dysgenesis 11 test
Ovarian dysgenesis 21 test
Ovarian dysgenesis 81 test
Ovarian hyperstimulation syndrome1 test
Ovarian response to FSH stimulation1 test
Pachyonychia congenita 11 test
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia1 test
Paget disease of bone 2, early-onset1 test
Paget disease of bone 31 test
Pallister-Hall syndrome1 test
Palmoplantar keratoderma i, striate, focal, or diffuse2 tests
Palmoplantar keratoderma, Bothnian type1 test
Palmoplantar keratoderma, epidermolytic3 tests
Palmoplantar keratoderma, Nagashima type1 test
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
Palmoplantar keratoderma, punctate type 1A1 test
Palmoplantar keratoderma-deafness syndrome1 test
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome1 test
Pancreatic cancer, susceptibility to, 21 test
Pancreatic cancer, susceptibility to, 31 test
Pancreatic cancer, susceptibility to, 41 test
Panhypopituitarism, X-linked2 tests
Papillary renal cell carcinoma type 11 test
Papillary thyroid carcinoma1 test
Papillary thyroid Microcarcinoma1 test
Paragangliomas 12 tests
Paragangliomas 21 test
Paragangliomas 32 tests
Paragangliomas 42 tests
Paragangliomas 51 test
Paramyotonia congenita of Von Eulenburg2 tests
Parastremmatic dwarfism1 test
Parathyroid carcinoma3 tests
Parietal foramina 21 test
Parkinson disease 11, autosomal dominant, susceptibility to1 test
Parkinson disease 13, autosomal dominant, susceptibility to2 tests
Parkinson disease 171 test
Parkinson disease 18, autosomal dominant, susceptibility to1 test
Parkinson disease 22, autosomal dominant1 test
Parkinson disease 5, autosomal dominant, susceptibility to1 test
Parkinsonian-pyramidal syndrome1 test
Parkinsonism-dystonia, infantile2 tests
Paroxysmal extreme pain disorder1 test
Paroxysmal nonkinesigenic dyskinesia1 test
Paroxysmal nonkinesigenic dyskinesia 12 tests
Partial androgen insensitivity syndrome1 test
Partington syndrome1 test
Patterned dystrophy of the retinal pigment epithelium1 test
Patterned macular dystrophy 21 test
PCWH syndrome3 tests
Peeling skin syndrome 13 tests
Peeling skin syndrome type A1 test
Pelger-Huët anomaly1 test
Pelizaeus-Merzbacher disease1 test
Pendred syndrome4 tests
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development1 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Periventricular nodular heterotopia 61 test
Periventricular nodular heterotopia 71 test
Perlman syndrome2 tests
Permanent neonatal diabetes mellitus1 test
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome1 test
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 10A (Zellweger)1 test
Peroxisome biogenesis disorder 10B1 test
Peroxisome biogenesis disorder 11A (Zellweger)1 test
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A (Zellweger)1 test
Peroxisome biogenesis disorder 13A (Zellweger)1 test
Peroxisome biogenesis disorder 14B1 test
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 2A (Zellweger)1 test
Peroxisome biogenesis disorder 2B2 tests
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6A (Zellweger)1 test
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A (Zellweger)1 test
Peroxisome biogenesis disorder 7B1 test
Peroxisome biogenesis disorder 8A (Zellweger)1 test
Peroxisome biogenesis disorder 8B1 test
Peroxisome biogenesis disorder 9B4 tests
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 42 tests
Perry syndrome1 test
Persistent hyperplastic primary vitreous, autosomal recessive1 test
Peters plus syndrome3 tests
Peutz-Jeghers syndrome3 tests
Pfeiffer syndrome1 test
PGM1-congenital disorder of glycosylation3 tests
PHARC syndrome4 tests
Phenylketonuria1 test
Pheochromocytoma4 tests
PHGDH deficiency2 tests
Phosphate transport defect1 test
Phytanic acid storage disease3 tests
Piebaldism1 test
Pierson syndrome2 tests
Pigmentary pallidal degeneration2 tests
Pigmentary retinal dystrophy3 tests
Pigmented paravenous retinochoroidal atrophy2 tests
Pitt-Hopkins syndrome2 tests
Pitt-Hopkins-like syndrome 21 test
Pituitary adenoma predisposition1 test
Pituitary hormone deficiency, combined, 14 tests
Pituitary hormone deficiency, combined, 24 tests
Pituitary hormone deficiency, combined, 63 tests
Pityriasis rubra pilaris1 test
Platelet-type bleeding disorder 161 test
Platyspondylic dysplasia, Torrance type1 test
Pleuropulmonary blastoma1 test
PMM2-congenital disorder of glycosylation3 tests
Poikiloderma with neutropenia1 test
Polycystic kidney disease 22 tests
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease 51 test
Polycystic kidney disease 6 with or without polycystic liver disease1 test
Polycystic kidney disease, adult type1 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
Polycystic liver disease 11 test
Polycystic liver disease 21 test
Polycystic liver disease 3 with or without kidney cysts1 test
Polycystic liver disease 4 with or without kidney cysts3 tests
Polydactyly, postaxial, type A11 test
Polyglucosan body myopathy type 21 test
Polymicrogyria with optic nerve hypoplasia1 test
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome1 test
Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1 test
Polysyndactyly 41 test
Pontocerebellar hypoplasia type 101 test
Pontocerebellar hypoplasia type 1B2 tests
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2D1 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 61 test
Pontocerebellar hypoplasia type 81 test
Pontocerebellar hypoplasia type 91 test
Pontocerebellar hypoplasia, type 1C1 test
Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
Porphyria1 test
Posterior column ataxia-retinitis pigmentosa syndrome2 tests
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 22 tests
Posterior polymorphous corneal dystrophy 32 tests
Postmenopausal osteoporosis2 tests
PPARG-related familial partial lipodystrophy1 test
Pregnancy loss, recurrent, susceptibility to, 11 test
Pregnancy loss, recurrent, susceptibility to, 21 test
Premature ovarian failure 11 test
Preterm premature rupture of membranes1 test
Pretibial dystrophic epidermolysis bullosa1 test
Primary ciliary dyskinesia1 test
Primary ciliary dyskinesia 102 tests
Primary ciliary dyskinesia 112 tests
Primary ciliary dyskinesia 122 tests
Primary ciliary dyskinesia 132 tests
Primary ciliary dyskinesia 142 tests
Primary ciliary dyskinesia 152 tests
Primary ciliary dyskinesia 162 tests
Primary ciliary dyskinesia 172 tests
Primary ciliary dyskinesia 182 tests
Primary ciliary dyskinesia 193 tests
Primary ciliary dyskinesia 22 tests
Primary ciliary dyskinesia 202 tests
Primary ciliary dyskinesia 212 tests
Primary ciliary dyskinesia 222 tests
Primary ciliary dyskinesia 232 tests
Primary ciliary dyskinesia 242 tests
Primary ciliary dyskinesia 252 tests
Primary ciliary dyskinesia 262 tests
Primary ciliary dyskinesia 272 tests
Primary ciliary dyskinesia 282 tests
Primary ciliary dyskinesia 292 tests
Primary ciliary dyskinesia 33 tests
Primary ciliary dyskinesia 302 tests
Primary ciliary dyskinesia 322 tests
Primary ciliary dyskinesia 332 tests
Primary ciliary dyskinesia 62 tests
Primary ciliary dyskinesia 73 tests
Primary ciliary dyskinesia 92 tests
Primary coenzyme Q10 deficiency 81 test
Primary dilated cardiomyopathy1 test
Primary erythromelalgia2 tests
Primary failure of tooth eruption1 test
Primary familial hypertrophic cardiomyopathy2 tests
Primary hypomagnesemia2 tests
Primary immunodeficiency syndrome due to p14 deficiency1 test
Primary pulmonary hypertension1 test
Progeroid and marfanoid aspect-lipodystrophy syndrome1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 13 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 32 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
Progressive familial heart block type IB1 test
Progressive myoclonic epilepsy1 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 62 tests
Progressive myoclonic epilepsy type 71 test
Progressive myoclonic epilepsy type 81 test
Progressive myositis ossificans1 test
Progressive osseous heteroplasia1 test
Progressive pseudorheumatoid dysplasia1 test
Progressive retinal dystrophy due to retinol transport defect1 test
Progressive scapulohumeroperoneal distal myopathy1 test
Progressive sclerosing poliodystrophy2 tests
Progressive supranuclear palsy-parkinsonism syndrome1 test
Prolactin-producing pituitary gland adenoma1 test
Proliferative vitreoretinopathy1 test
Propionic acidemia1 test
Prostate cancer, hereditary, 11 test
Prostate cancer, hereditary, 91 test
Proteasome-associated autoinflammatory syndrome 21 test
Proximal myopathy with extrapyramidal signs2 tests
PSAT deficiency2 tests
Pseudo-Hurler polydystrophy1 test
Pseudo-TORCH syndrome1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
Pseudoexfoliation glaucoma1 test
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism, type IB1, autosomal recessive1 test
Pseudohypoparathyroidism2 tests
Pseudohypoparathyroidism type 1B2 tests
Pseudohypoparathyroidism type 1C2 tests
Pseudopseudohypoparathyroidism2 tests
Psoriasis 21 test
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1 test
PTEN hamartoma tumor syndrome3 tests
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1 test
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1 test
Purine-nucleoside phosphorylase deficiency1 test
PYCR1-related de Barsy syndrome2 tests
Pyknodysostosis2 tests
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E2 deficiency1 test
Pyruvate dehydrogenase E3 deficiency2 tests
Pyruvate dehydrogenase E3-binding protein deficiency1 test
Pyruvate dehydrogenase phosphatase deficiency1 test
RAB23-related Carpenter syndrome1 test
Rafiq syndrome1 test
Recessive dystrophic epidermolysis bullosa1 test
Recombination rate quantitative trait locus 11 test
Red-green dyschromatopsia1 test
Refsum disease, adult, 11 test
Regressive spondylometaphyseal dysplasia1 test
Reis-Bucklers' corneal dystrophy2 tests
Renal carnitine transport defect2 tests
Renal cell carcinoma1 test
Renal coloboma syndrome2 tests
Renal cysts and diabetes syndrome2 tests
Renal dysplasia and retinal aplasia2 tests
Renal dysplasia, cystic, susceptibility to1 test
Renal hypomagnesemia 22 tests
Renal hypomagnesemia 41 test
Renal hypomagnesemia 5 with ocular involvement2 tests
Renal hypomagnesemia 61 test
Renal tubular acidosis with progressive nerve deafness2 tests
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Renal-hepatic-pancreatic dysplasia1 test
Renal-hepatic-pancreatic dysplasia 12 tests
Renal-hepatic-pancreatic dysplasia 22 tests
Renpenning syndrome1 test
Reticular dysgenesis1 test
Retinal arterial tortuosity2 tests
Retinal cone dystrophy 3A2 tests
Retinal cone dystrophy 42 tests
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
Retinal dystrophy with or without macular staphyloma2 tests
Retinal macular dystrophy type 21 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations2 tests
Retinitis pigmentosa1 test
Retinitis pigmentosa 13 tests
Retinitis pigmentosa 103 tests
Retinitis pigmentosa 113 tests
Retinitis pigmentosa 123 tests
Retinitis pigmentosa 133 tests
Retinitis pigmentosa 142 tests
Retinitis pigmentosa 173 tests
Retinitis pigmentosa 183 tests
Retinitis pigmentosa 191 test
Retinitis pigmentosa 23 tests
Retinitis pigmentosa 203 tests
Retinitis pigmentosa 233 tests
Retinitis pigmentosa 252 tests
Retinitis pigmentosa 263 tests
Retinitis pigmentosa 273 tests
Retinitis pigmentosa 283 tests
Retinitis pigmentosa 33 tests
Retinitis pigmentosa 303 tests
Retinitis pigmentosa 314 tests
Retinitis pigmentosa 332 tests
Retinitis pigmentosa 353 tests
Retinitis pigmentosa 362 tests
Retinitis pigmentosa 374 tests
Retinitis pigmentosa 382 tests
Retinitis pigmentosa 392 tests
Retinitis pigmentosa 43 tests
Retinitis pigmentosa 402 tests
Retinitis pigmentosa 412 tests
Retinitis pigmentosa 422 tests
Retinitis pigmentosa 432 tests
Retinitis pigmentosa 443 tests
Retinitis pigmentosa 452 tests
Retinitis pigmentosa 462 tests
Retinitis pigmentosa 472 tests
Retinitis pigmentosa 483 tests
Retinitis pigmentosa 492 tests
Retinitis pigmentosa 504 tests
Retinitis pigmentosa 512 tests
Retinitis pigmentosa 543 tests
Retinitis pigmentosa 551 test
Retinitis pigmentosa 562 tests
Retinitis pigmentosa 572 tests
Retinitis pigmentosa 582 tests
Retinitis pigmentosa 594 tests
Retinitis pigmentosa 603 tests
Retinitis pigmentosa 613 tests
Retinitis pigmentosa 623 tests
Retinitis pigmentosa 641 test
Retinitis pigmentosa 662 tests
Retinitis pigmentosa 73 tests
Retinitis pigmentosa 7, digenic1 test
Retinitis pigmentosa 714 tests
Retinitis pigmentosa 721 test
Retinitis pigmentosa 791 test
Retinitis pigmentosa 801 test
Retinitis pigmentosa 93 tests
Retinitis pigmentosa and erythrocytic microcytosis2 tests
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness3 tests
Retinoblastoma2 tests
Rett syndrome1 test
Rett syndrome, congenital variant1 test
Reynolds syndrome1 test
RFT1-congenital disorder of glycosylation1 test
Rhabdoid tumor predisposition syndrome 13 tests
Rhabdomyosarcoma, embryonal, 22 tests
Rheumatoid arthritis1 test
Rhizomelic chondrodysplasia punctata type 13 tests
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Rhizomelic chondrodysplasia punctata type 51 test
RHYNS syndrome1 test
Right atrial isomerism1 test
RIN2 syndrome2 tests
Ring dermoid of cornea1 test
Rippling muscle disease2 tests
Rippling muscle disease 22 tests
Ritscher-Schinzel syndrome1 test
Ritscher-Schinzel syndrome 21 test
Roberts-SC phocomelia syndrome1 test
Robinow syndrome1 test
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked2 tests
Rothmund-Thomson syndrome1 test
Rubinstein-Taybi syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2 tests
Saccharopinuria1 test
Saethre-Chotzen syndrome1 test
Saldino-Mainzer syndrome3 tests
Salla disease1 test
Sandhoff disease1 test
Sarcotubular myopathy2 tests
Scapuloperoneal spinal muscular atrophy1 test
Schimke immuno-osseous dysplasia1 test
Schizencephaly1 test
Schneckenbecken dysplasia1 test
Schnyder crystalline corneal dystrophy2 tests
Schwannomatosis 12 tests
Schwannomatosis 21 test
Schwartz-Jampel syndrome1 test
Sclerosteosis 21 test
Seckel syndrome 12 tests
Seckel syndrome 102 tests
Seckel syndrome 22 tests
Seckel syndrome 51 test
Seckel syndrome 62 tests
Seckel syndrome 72 tests
Seckel syndrome 83 tests
Seckel syndrome 92 tests
Seizures, benign familial infantile, 23 tests
Seizures, benign familial infantile, 31 test
Seizures, benign familial neonatal, 12 tests
Selective pituitary resistance to thyroid hormone3 tests
Sengers syndrome2 tests
Senior-Loken syndrome 12 tests
Senior-Loken syndrome 44 tests
Senior-Loken syndrome 54 tests
Senior-Loken syndrome 64 tests
Senior-Loken syndrome 74 tests
Senior-Loken syndrome 85 tests
Senior-Loken syndrome 91 test
Sensorineural deafness with mild renal dysfunction1 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
Septo-optic dysplasia sequence4 tests
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe combined immunodeficiency due to CARD11 deficiency1 test
Severe combined immunodeficiency due to CORO1A deficiency1 test
Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
Severe combined immunodeficiency due to IKK2 deficiency1 test
Severe combined immunodeficiency due to LCK deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
Severe dermatitis-multiple allergies-metabolic wasting syndrome2 tests
Severe early-childhood-onset retinal dystrophy3 tests
Severe neonatal-onset encephalopathy with microcephaly2 tests
Severe X-linked mitochondrial encephalomyopathy1 test
Severe X-linked myotubular myopathy1 test
Short QT syndrome type 12 tests
Short QT syndrome type 22 tests
Short QT syndrome type 33 tests
Short stature due to growth hormone qualitative anomaly1 test
Short stature due to partial GHR deficiency1 test
Short stature with nonspecific skeletal abnormalities1 test
Short stature, microcephaly, and endocrine dysfunction1 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome2 tests
Short-rib thoracic dysplasia 10 with or without polydactyly3 tests
Short-rib thoracic dysplasia 11 with or without polydactyly3 tests
Short-rib thoracic dysplasia 13 with or without polydactyly2 tests
Short-rib thoracic dysplasia 14 with polydactyly2 tests
Short-rib thoracic dysplasia 15 with polydactyly1 test
Short-rib thoracic dysplasia 16 with or without polydactyly1 test
Short-rib thoracic dysplasia 17 with or without polydactyly1 test
Short-rib thoracic dysplasia 18 with polydactyly1 test
Short-rib thoracic dysplasia 6 with or without polydactyly3 tests
Short-rib thoracic dysplasia 7 with or without polydactyly3 tests
Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
SHOX-related short stature1 test
Shprintzen-Goldberg syndrome1 test
Shwachman syndrome1 test
Shwachman-Diamond syndrome 11 test
Shwachman-Diamond syndrome 21 test
Sialic acid storage disease, severe infantile type1 test
Sialidosis1 test
Sialidosis type 11 test
Sialuria1 test
Sick sinus syndrome 11 test
Sick sinus syndrome 2, autosomal dominant1 test
Sideroblastic anemia 22 tests
Sideroblastic anemia 32 tests
Simpson-Golabi-Behmel syndrome type 23 tests
Sjögren-Larsson syndrome1 test
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES1 test
Skin/hair/eye pigmentation, variation in, 21 test
Skin/hair/eye pigmentation, variation in, 41 test
SLC35A1-congenital disorder of glycosylation1 test
SLC35A2-congenital disorder of glycosylation2 tests
Small cell lung carcinoma1 test
Smith-Lemli-Opitz syndrome4 tests
Smith-Magenis syndrome1 test
Smith-McCort dysplasia 11 test
Snowflake vitreoretinal degeneration2 tests
Solitary median maxillary central incisor syndrome1 test
Somatotroph adenoma1 test
Sorsby fundus dystrophy1 test
Spastic ataxia 11 test
Spastic ataxia 21 test
Spastic ataxia 32 tests
Spastic ataxia 41 test
Spastic ataxia 51 test
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
Spastic ataxia 9, autosomal recessive1 test
Spastic paraplegia 52, autosomal recessive2 tests
Spasticity-ataxia-gait anomalies syndrome1 test
Specific granule deficiency 21 test
Spermatogenic failure 101 test
Spermatogenic failure 111 test
Spermatogenic failure 121 test
Spermatogenic failure 131 test
Spermatogenic failure 141 test
Spermatogenic failure 151 test
Spermatogenic failure 161 test
Spermatogenic failure 171 test
Spermatogenic failure 182 tests
Spermatogenic failure 191 test
Spermatogenic failure 201 test
Spermatogenic failure 211 test
Spermatogenic failure 221 test
Spermatogenic failure 231 test
Spermatogenic failure 241 test
Spermatogenic failure 251 test
Spermatogenic failure 261 test
Spermatogenic failure 271 test
Spermatogenic failure 281 test
Spermatogenic failure 291 test
Spermatogenic failure 31 test
Spermatogenic failure 301 test
Spermatogenic failure 311 test
Spermatogenic failure 321 test
Spermatogenic failure 331 test
Spermatogenic failure 341 test
Spermatogenic failure 351 test
Spermatogenic failure 361 test
Spermatogenic failure 371 test
Spermatogenic failure 381 test
Spermatogenic failure 41 test
Spermatogenic failure 71 test
Spermatogenic failure 81 test
Spermatogenic failure 91 test
Spermatogenic failure, X-linked, 21 test
Spermatogenic failure, Y-linked, 21 test
Sphingolipid activator protein 1 deficiency2 tests
Spinal muscular atrophy1 test
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1 test
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia 451 test
Spinocerebellar ataxia 461 test
Spinocerebellar ataxia 471 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 15/161 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 201 test
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 291 test
Spinocerebellar ataxia type 341 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 361 test
Spinocerebellar ataxia type 381 test
Spinocerebellar ataxia type 401 test
Spinocerebellar ataxia type 411 test
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia, autosomal recessive 221 test
Spinocerebellar ataxia, autosomal recessive 231 test
Spinocerebellar ataxia, autosomal recessive 242 tests
Spinocerebellar ataxia, autosomal recessive 251 test
Spinocerebellar ataxia, autosomal recessive 261 test
Spinocerebellar ataxia, autosomal recessive 271 test
Spinocerebellar ataxia, autosomal recessive 281 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
Spondylocarpotarsal synostosis syndrome1 test
Spondyloepimetaphyseal dysplasia with joint laxity1 test
Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
Spondyloepimetaphyseal dysplasia, Missouri type1 test
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
Spondyloepiphyseal dysplasia congenita2 tests
Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
Spondyloepiphyseal dysplasia with metatarsal shortening1 test
Spondyloepiphyseal dysplasia, Stanescu type1 test
Spondylometaphyseal dysplasia2 tests
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
Spondyloperipheral dysplasia2 tests
Spongy degeneration of central nervous system2 tests
SRD5A3-congenital disorder of glycosylation2 tests
SSR4-congenital disorder of glycosylation1 test
Stargardt disease 31 test
Stargardt disease 41 test
Statin causing adverse effect in therapeutic use1 test
Sterol carrier protein 2 deficiency1 test
Stickler syndrome type 13 tests
Stickler syndrome type 24 tests
Stickler syndrome, type 44 tests
Stickler syndrome, type 54 tests
Stickler syndrome, type I, nonsyndromic ocular1 test
Stiff skin syndrome1 test
Stormorken syndrome1 test
Stromme syndrome2 tests
Structural brain anomalies with impaired intellectual development and craniosynostosis1 test
STT3A-congenital disorder of glycosylation1 test
STT3B-congenital disorder of glycosylation1 test
Stuttering, familial persistent, 11 test
Stuve-Wiedemann syndrome1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Supravalvar aortic stenosis2 tests
Susceptibility to mononeuropathy of the median nerve, mild1 test
Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
Syndromic microphthalmia type 53 tests
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Najm type4 tests
Syndromic X-linked intellectual disability Raymond type1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1 test
Tall stature-scoliosis-macrodactyly of the great toes syndrome1 test
Tangier disease1 test
TARDBP-related frontotemporal dementia1 test
Tay-Sachs disease1 test
Tay-Sachs disease, B variant, adult form1 test
Tay-Sachs disease, variant AB1 test
TCF12-related craniosynostosis1 test
Telangiectasia, hereditary hemorrhagic, type 51 test
Temple-Baraitser syndrome1 test
Temtamy syndrome1 test
Terminal osseous dysplasia-pigmentary defects syndrome3 tests
Tetralogy of Fallot2 tests
Thanatophoric dysplasia type 13 tests
Thanatophoric dysplasia, type 23 tests
Thiel-Behnke corneal dystrophy1 test
Thrombocytopenia 11 test
Thrombocytopenia 21 test
Thrombocytopenia 41 test
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
Thrombomodulin-related bleeding disorder2 tests
Thrombophilia1 test
Thrombophilia due to activated protein C resistance2 tests
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to protein C deficiency, autosomal recessive1 test
Thrombophilia due to protein S deficiency, autosomal dominant1 test
Thrombophilia due to protein S deficiency, autosomal recessive1 test
Thrombophilia, X-linked, due to factor 9 defect1 test
Thrombotic thrombocytopenic purpura1 test
Thyroglobulin synthesis defect3 tests
Thyroid cancer, nonmedullary, 22 tests
Thyroid dysgenesis1 test
Thyroid dyshormonogenesis 14 tests
Thyroid dyshormonogenesis 63 tests
Thyroid hormone metabolism, abnormal 13 tests
Thyroid hormone resistance, generalized, autosomal dominant3 tests
Thyroid hormone resistance, generalized, autosomal recessive3 tests
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Tibial muscular dystrophy3 tests
Timothy syndrome1 test
TMEM165-congenital disorder of glycosylation1 test
Torsion dystonia1 test
Torsion dystonia 21 test
Torsion dystonia 43 tests
Torsion dystonia 61 test
Transcobalamin I deficiency1 test
Transcobalamin II deficiency1 test
Transferrin serum level quantitative trait locus 21 test
Transient bullous dermolysis of the newborn1 test
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Tremor, hereditary essential, 41 test
Trichothiodystrophy1 test
Trichothiodystrophy 2, photosensitive1 test
Trichothiodystrophy 3, photosensitive1 test
Trichothiodystrophy 4, nonphotosensitive1 test
Triglyceride storage disease with ichthyosis2 tests
Trigonocephaly 11 test
Trigonocephaly 21 test
Troyer syndrome2 tests
Tuberous sclerosis 16 tests
Tuberous sclerosis 26 tests
Tubulointerstitial kidney disease, autosomal dominant, 21 test
Tumor predisposition syndrome 31 test
TWIST1-related craniosynostosis1 test
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 202 tests
Type 2 diabetes mellitus4 tests
Tyrosinase-positive oculocutaneous albinism1 test
Ullrich congenital muscular dystrophy 1A2 tests
Ullrich congenital muscular dystrophy 23 tests
Upshaw-Schulman syndrome1 test
Usher syndrome type 11 test
Usher syndrome type 1B1 test
Usher syndrome type 1C2 tests
Usher syndrome type 1D2 tests
Usher syndrome type 1F2 tests
Usher syndrome type 1G3 tests
Usher syndrome type 1J1 test
Usher syndrome type 2A3 tests
Usher syndrome type 2C3 tests
Usher syndrome type 2D2 tests
Usher syndrome type 35 tests
Usher syndrome type 3B3 tests
Usher syndrome, type 1D/F2 tests
Usher syndrome, type IIC, GPR98/PDZD7 digenic2 tests
Uveal coloboma-cleft lip and palate-intellectual disability1 test
VACTERL association, X-linked, with or without hydrocephalus1 test
Van Buchem disease type 23 tests
Van Maldergem syndrome 21 test
Vanishing white matter disease2 tests
Variegate porphyria2 tests
Vas deferens, congenital bilateral aplasia of, X-linked1 test
Velocardiofacial syndrome2 tests
Venous thrombosis, susceptibility to1 test
Ventricular fibrillation, paroxysmal familial, type 11 test
Ventricular septal defect 31 test
Very long chain acyl-CoA dehydrogenase deficiency3 tests
Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
Vitelliform macular dystrophy3 tests
Vitelliform macular dystrophy 11 test
Vitelliform macular dystrophy 42 tests
Von Hippel-Lindau syndrome5 tests
von Willebrand disease type 11 test
Von Willebrand disease type 2A1 test
Von Willebrand disease type 2B1 test
von Willebrand disease type 2M1 test
von Willebrand disease type 2N1 test
von Willebrand disease type 31 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E4 tests
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C4 tests
Wagner syndrome2 tests
Warburg micro syndrome 11 test
Warburg micro syndrome 21 test
Warburg micro syndrome 31 test
Warburg micro syndrome 41 test
Warburg-cinotti syndrome1 test
Warfarin response1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
Weaver syndrome1 test
Weill-Marchesani 4 syndrome, recessive1 test
Weill-Marchesani syndrome 11 test
Weill-Marchesani syndrome 2, dominant1 test
Weill-Marchesani syndrome 31 test
Welander distal myopathy1 test
Werner syndrome1 test
Wiedemann-Steiner syndrome3 tests
Wilms tumor 12 tests
Wilms tumor 61 test
Wilson disease3 tests
Wiskott-Aldrich syndrome 21 test
Wolfram Syndrome-Like Disease1 test
Wolman disease1 test
Woodhouse-Sakati syndrome1 test
Woolly hair-skin fragility syndrome1 test
Worth disease2 tests
Wrinkly skin syndrome3 tests
X-linked Alport syndrome1 test
X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
X-linked chondrodysplasia punctata 11 test
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
X-linked cone-rod dystrophy 14 tests
X-linked cone-rod dystrophy 33 tests
X-linked deafness1 test
X-linked distal spinal muscular atrophy type 31 test
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
X-linked dystonia-parkinsonism2 tests
X-linked Emery-Dreifuss muscular dystrophy2 tests
X-linked erythropoietic protoporphyria1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability, Cantagrel type1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
X-linked lissencephaly with abnormal genitalia1 test
X-linked mixed hearing loss with perilymphatic gusher1 test
X-linked myopathy with postural muscle atrophy1 test
X-linked progressive cerebellar ataxia1 test
X-linked scapuloperoneal muscular dystrophy1 test
X-linked sideroblastic anemia with ataxia2 tests
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum group B2 tests
Xeroderma pigmentosum, group C1 test
Xeroderma pigmentosum, group D2 tests
Xeroderma pigmentosum, group E1 test
Xeroderma pigmentosum, group F1 test
Xeroderma pigmentosum, group G1 test
Y chromosome-related disorders1 test
Yunis-Varon syndrome1 test
Zellweger spectrum disorders1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Custom microarray analysis
Carrier testing
Maternal cell contamination study (MCC)
Mutation Confirmation
Result interpretation
Whole Exome Sequencing
Whole Genome Sequencing

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 99D2046227, Expiration date: 2022-12-12
ISO15189, Number: L259, Expiration date: 2023-04-16

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.