Reference Laboratory Genetics

Personnel

Director: Jaime Torrents, PhD, Administrator
Phone: +34932593700
Fax: +34932845000
Email: genetics@referencelaboratory.es
Ismael Carmona, BPharm, Staff
Phone: +34932593700
Fax: +34932845000
Email: icarmona@referencelaboratory.es

Conditions and tests

2943 conditions/phenotypes with 2407 tests
Enter text to narrow down the list

3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency2 tests
3-Methylglutaconic aciduria type 210 tests
3-methylglutaconic aciduria type 52 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2 tests
3M syndrome 12 tests
3M syndrome 22 tests
3M syndrome 31 test
3MC syndrome 11 test
3MC syndrome 21 test
3MC syndrome 31 test
46,XX sex reversal 12 tests
46,XX sex reversal 42 tests
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 12 tests
46,XY sex reversal 21 test
46,XY sex reversal 32 tests
46,XY sex reversal 72 tests
Aarskog syndrome5 tests
Abetalipoproteinaemia2 tests
Ablepharon macrostomia syndrome1 test
Abortive cerebellar ataxia1 test
Absence seizure1 test
Acatalasia1 test
Achondrogenesis type II4 tests
Achondrogenesis, type IA4 tests
Achondrogenesis, type IB5 tests
Achondroplasia3 tests
Achromatopsia 22 tests
Achromatopsia 33 tests
Achromatopsia 41 test
Acquired partial lipodystrophy2 tests
Acquired polycythemia vera2 tests
Acral peeling skin syndrome2 tests
Acrocallosal syndrome2 tests
Acrocephalosyndactyly type I2 tests
Acrodysostosis 1 with or without hormone resistance2 tests
Acroerythrokeratoderma1 test
Acrokeratosis verruciformis of Hopf1 test
Acromesomelic dysplasia 1, Maroteaux type1 test
Acromesomelic dysplasia 2B1 test
Actin accumulation myopathy4 tests
Action myoclonus-renal failure syndrome1 test
Acute intermittent porphyria3 tests
Acute lymphoid leukemia3 tests
Acute myeloid leukemia7 tests
Acyl-CoA dehydrogenase 9 deficiency1 test
Acyl-CoA oxidase deficiency3 tests
Adams-Oliver syndrome 12 tests
Adams-Oliver syndrome 22 tests
Adams-Oliver syndrome 31 test
Adams-Oliver syndrome 41 test
Adams-Oliver syndrome 53 tests
Adams-Oliver syndrome 61 test
ADan amyloidosis1 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
Adrenocortical carcinoma, hereditary3 tests
Adrenoleukodystrophy4 tests
Adult hypophosphatasia4 tests
Adult neuronal ceroid lipofuscinosis4 tests
Adult polyglucosan body disease1 test
ADULT syndrome2 tests
Adult-onset autosomal dominant demyelinating leukodystrophy2 tests
Adult-onset foveomacular vitelliform dystrophy3 tests
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
Afibrinogenemia1 test
Agammaglobulinemia 2, autosomal recessive2 tests
Agammaglobulinemia 3, autosomal recessive2 tests
Agammaglobulinemia 4, autosomal recessive2 tests
Agammaglobulinemia 5, autosomal dominant2 tests
Agammaglobulinemia 6, autosomal recessive2 tests
Agammaglobulinemia 7, autosomal recessive1 test
Age related macular degeneration 11 test
Age related macular degeneration 111 test
Age related macular degeneration 121 test
Age related macular degeneration 131 test
Age related macular degeneration 141 test
Age related macular degeneration 151 test
Age related macular degeneration 22 tests
Age related macular degeneration 41 test
Age related macular degeneration 51 test
Age related macular degeneration 61 test
Age related macular degeneration 71 test
Age related macular degeneration 81 test
Age related macular degeneration 91 test
Agenesis of the corpus callosum with peripheral neuropathy3 tests
Aicardi-Goutieres syndrome 13 tests
Aicardi-Goutieres syndrome 23 tests
Aicardi-Goutieres syndrome 33 tests
Aicardi-Goutieres syndrome 43 tests
Aicardi-Goutieres syndrome 53 tests
Aicardi-Goutieres syndrome 62 tests
Aicardi-Goutieres syndrome 71 test
Alagille syndrome due to a JAG1 point mutation4 tests
Alagille syndrome due to a NOTCH2 point mutation2 tests
ALDH18A1-related de Barsy syndrome1 test
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
Alexander disease3 tests
ALG12-congenital disorder of glycosylation1 test
ALG2-congenital disorder of glycosylation1 test
ALG3-congenital disorder of glycosylation2 tests
ALG6-congenital disorder of glycosylation 1C2 tests
ALG8 congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation1 test
Alkaptonuria1 test
Allan-Herndon-Dudley syndrome4 tests
Alopecia universalis congenita1 test
alpha Thalassemia2 tests
Alpha thalassemia-X-linked intellectual disability syndrome2 tests
Alpha-1-antitrypsin deficiency1 test
Alpha-methylacyl-CoA racemase deficiency2 tests
Alpha-N-acetylgalactosaminidase deficiency type 12 tests
Alpha-N-acetylgalactosaminidase deficiency type 22 tests
Alstrom syndrome1 test
Alternating hemiplegia of childhood 12 tests
Alzheimer disease4 tests
Alzheimer disease 21 test
Alzheimer disease 34 tests
Alzheimer disease 43 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta hypomaturation type 2A21 test
Amelogenesis imperfecta hypomaturation type 2A31 test
Amelogenesis imperfecta type 1A1 test
Amelogenesis imperfecta type 1C1 test
Amelogenesis imperfecta type 1E1 test
Amelogenesis imperfecta type 1G1 test
Amelogenesis imperfecta type 2A11 test
Amelogenesis imperfecta, hypocalcification type1 test
Aminoacylase 1 deficiency1 test
Amyloidosis, primary localized cutaneous, 11 test
Amyloidosis, primary localized cutaneous, 21 test
Amyotrophic lateral sclerosis type 12 tests
Amyotrophic lateral sclerosis type 104 tests
Amyotrophic lateral sclerosis type 113 tests
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 151 test
Amyotrophic lateral sclerosis type 162 tests
Amyotrophic lateral sclerosis type 2, juvenile3 tests
Amyotrophic lateral sclerosis type 44 tests
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 63 tests
Amyotrophic lateral sclerosis type 82 tests
Amyotrophic lateral sclerosis type 92 tests
Amyotrophic neuralgia2 tests
Anauxetic dysplasia 11 test
Andersen Tawil syndrome3 tests
Androgen resistance syndrome2 tests
ANE syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency5 tests
Aneurysm-osteoarthritis syndrome5 tests
Angelman syndrome4 tests
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
Aniridia 14 tests
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
Annular epidermolytic ichthyosis2 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 33 tests
Anterior segment dysgenesis 42 tests
Anterior segment dysgenesis 61 test
Anterior segment dysgenesis 72 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Anxiety2 tests
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 64 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic aneurysm, familial thoracic 81 test
Aortic valve disease 12 tests
Aplastic anemia2 tests
Apolipoprotein c-III deficiency1 test
Apparent mineralocorticoid excess3 tests
Arginase deficiency1 test
Arginine:glycine amidinotransferase deficiency1 test
Argininosuccinate lyase deficiency2 tests
Aromatase deficiency2 tests
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
Arrhythmogenic right ventricular dysplasia 12 tests
Arrhythmogenic right ventricular dysplasia 103 tests
Arrhythmogenic right ventricular dysplasia 114 tests
Arrhythmogenic right ventricular dysplasia 124 tests
Arrhythmogenic right ventricular dysplasia 132 tests
Arrhythmogenic right ventricular dysplasia 24 tests
Arrhythmogenic right ventricular dysplasia 53 tests
Arrhythmogenic right ventricular dysplasia 83 tests
Arrhythmogenic right ventricular dysplasia 95 tests
Arterial calcification, generalized, of infancy, 13 tests
Arterial calcification, generalized, of infancy, 21 test
Arterial tortuosity syndrome3 tests
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 1B2 tests
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Aspartylglucosaminuria2 tests
Asperger syndrome, X-linked, susceptibility to, 13 tests
Asperger syndrome, X-linked, susceptibility to, 23 tests
Asphyxiating thoracic dystrophy 23 tests
Asphyxiating thoracic dystrophy 33 tests
Asphyxiating thoracic dystrophy 42 tests
Asphyxiating thoracic dystrophy 52 tests
Ataxia with oculomotor apraxia type 31 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia5 tests
Ataxia-telangiectasia syndrome5 tests
Ataxia-telangiectasia-like disorder 13 tests
Ateleiotic dwarfism2 tests
Atelosteogenesis type I2 tests
Atelosteogenesis type II2 tests
Atelosteogenesis type III2 tests
Atransferrinemia1 test
Atrial conduction disease1 test
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 113 tests
Atrial fibrillation, familial, 122 tests
Atrial fibrillation, familial, 132 tests
Atrial fibrillation, familial, 144 tests
Atrial fibrillation, familial, 152 tests
Atrial fibrillation, familial, 32 tests
Atrial fibrillation, familial, 42 tests
Atrial fibrillation, familial, 62 tests
Atrial fibrillation, familial, 72 tests
Atrial fibrillation, familial, 93 tests
Atrial septal defect 52 tests
Atrial septal defect 71 test
Atrial standstill 11 test
Atrichia with papular lesions1 test
Atrioventricular septal defect 41 test
Atrioventricular septal defect and common atrioventricular junction1 test
Atrophia bulborum hereditaria2 tests
Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
Atypical hemolytic-uremic syndrome with C3 anomaly2 tests
Atypical hemolytic-uremic syndrome with I factor anomaly3 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly4 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly3 tests
Autism spectrum disorder due to AUTS2 deficiency1 test
Autism, susceptibility to, 151 test
Autism, susceptibility to, 161 test
Autism, susceptibility to, 171 test
Autism, susceptibility to, X-linked 11 test
Autism, susceptibility to, X-linked 23 tests
Autism, susceptibility to, X-linked 31 test
Autism, susceptibility to, X-linked 41 test
Autism, susceptibility to, X-linked 51 test
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome2 tests
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency4 tests
Autoimmune lymphoproliferative syndrome type 13 tests
Autoimmune lymphoproliferative syndrome type 2A2 tests
Autoimmune lymphoproliferative syndrome type 2B2 tests
Autoimmune lymphoproliferative syndrome type 43 tests
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
Autosomal dominant Alport syndrome3 tests
Autosomal dominant aplasia and myelodysplasia1 test
Autosomal dominant centronuclear myopathy4 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures4 tests
Autosomal dominant distal renal tubular acidosis3 tests
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome2 tests
Autosomal dominant hypocalcemia 14 tests
Autosomal dominant hypocalcemia 21 test
Autosomal dominant hypophosphatemic rickets3 tests
Autosomal dominant isolated somatotropin deficiency2 tests
Autosomal dominant keratitis1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)3 tests
Autosomal dominant nocturnal frontal lobe epilepsy 14 tests
Autosomal dominant nocturnal frontal lobe epilepsy 34 tests
Autosomal dominant nocturnal frontal lobe epilepsy 44 tests
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 131 test
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 202 tests
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
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 2B2 tests
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A2 tests
Autosomal dominant nonsyndromic hearing loss 3B3 tests
Autosomal dominant nonsyndromic hearing loss 401 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 502 tests
Autosomal dominant nonsyndromic hearing loss 511 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 691 test
Autosomal dominant nonsyndromic hearing loss 92 tests
Autosomal dominant Opitz G/BBB syndrome1 test
Autosomal dominant optic atrophy classic form5 tests
Autosomal dominant osteopetrosis 12 tests
Autosomal dominant osteopetrosis 23 tests
Autosomal dominant Parkinson disease 13 tests
Autosomal dominant Parkinson disease 43 tests
Autosomal dominant Parkinson disease 84 tests
Autosomal dominant pseudohypoaldosteronism type 12 tests
Autosomal dominant Robinow syndrome 11 test
Autosomal dominant vitreoretinochoroidopathy2 tests
Autosomal recessive agammaglobulinemia 12 tests
Autosomal recessive Alport syndrome6 tests
Autosomal recessive ataxia due to ubiquinone deficiency3 tests
Autosomal recessive ataxia, Beauce type2 tests
Autosomal recessive congenital ichthyosis 12 tests
Autosomal recessive congenital ichthyosis 101 test
Autosomal recessive congenital ichthyosis 111 test
Autosomal recessive congenital ichthyosis 22 tests
Autosomal recessive congenital ichthyosis 32 tests
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B2 tests
Autosomal recessive congenital ichthyosis 52 tests
Autosomal recessive congenital ichthyosis 61 test
Autosomal recessive congenital ichthyosis 82 tests
Autosomal recessive congenital ichthyosis 91 test
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive distal renal tubular acidosis3 tests
Autosomal recessive distal spinal muscular atrophy 14 tests
Autosomal recessive DOPA responsive dystonia4 tests
Autosomal recessive early-onset Parkinson disease 63 tests
Autosomal recessive early-onset Parkinson disease 73 tests
Autosomal recessive hypophosphatemic bone disease3 tests
Autosomal recessive inherited pseudoxanthoma elasticum3 tests
Autosomal recessive juvenile Parkinson disease 25 tests
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
Autosomal recessive limb-girdle muscular dystrophy type R181 test
Autosomal recessive multiple pterygium syndrome2 tests
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 1A4 tests
Autosomal recessive nonsyndromic hearing loss 1B3 tests
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 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 312 tests
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 372 tests
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 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 592 tests
Autosomal recessive nonsyndromic hearing loss 62 tests
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 72 tests
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 82 tests
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 93 tests
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 971 test
Autosomal recessive optic atrophy, OPA7 type2 tests
Autosomal recessive osteopetrosis 12 tests
Autosomal recessive osteopetrosis 22 tests
Autosomal recessive osteopetrosis 42 tests
Autosomal recessive osteopetrosis 52 tests
Autosomal recessive osteopetrosis 62 tests
Autosomal recessive osteopetrosis 72 tests
Autosomal recessive osteopetrosis 81 test
Autosomal recessive Parkinson disease 142 tests
Autosomal recessive polycystic kidney disease4 tests
Autosomal recessive proximal renal tubular acidosis2 tests
Autosomal recessive pseudohypoaldosteronism type 15 tests
Autosomal recessive Robinow syndrome2 tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency3 tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency4 tests
Autosomal recessive spinocerebellar ataxia 101 test
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 161 test
Avellino corneal dystrophy2 tests
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 32 tests
Azorean disease1 test
B4GALT1-congenital disorder of glycosylation1 test
Bamforth-Lazarus syndrome1 test
Bannayan-Riley-Ruvalcaba syndrome1 test
BAP1-related tumor predisposition syndrome4 tests
Baraitser-Winter syndrome 11 test
Baraitser-winter syndrome 22 tests
Bardet-Biedl syndrome5 tests
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 132 tests
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 22 tests
Bardet-Biedl syndrome 42 tests
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 72 tests
Bardet-Biedl syndrome 82 tests
Bardet-Biedl syndrome 92 tests
Bartsocas-Papas syndrome 11 test
Bartter disease type 12 tests
Bartter disease type 23 tests
Bartter disease type 34 tests
Bartter disease type 4A3 tests
Bartter disease type 4B2 tests
Basal cell carcinoma, susceptibility to, 11 test
Basal cell carcinoma, susceptibility to, 71 test
Basal ganglia calcification, idiopathic, 41 test
Basal ganglia calcification, idiopathic, 51 test
Basal ganglia calcification, idiopathic, 61 test
Becker muscular dystrophy4 tests
Beckwith-Wiedemann syndrome5 tests
Benign familial hematuria2 tests
Benign hereditary chorea2 tests
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 22 tests
Bernard Soulier syndrome7 tests
Bernard-Soulier syndrome, type A2, autosomal dominant2 tests
beta Thalassemia2 tests
Beta-aminoisobutyric acid, urinary excretion of1 test
Beta-D-mannosidosis2 tests
Beta-thalassemia-X-linked thrombocytopenia syndrome2 tests
Bethlem myopathy 1A5 tests
Bethlem myopathy 21 test
Bietti crystalline corneoretinal dystrophy1 test
Bifunctional peroxisomal enzyme deficiency3 tests
Bilateral frontoparietal polymicrogyria3 tests
Bilateral microtia-deafness-cleft palate syndrome1 test
Bilateral parasagittal parieto-occipital polymicrogyria1 test
Biotin-responsive basal ganglia disease2 tests
Biotinidase deficiency2 tests
Birk-Barel syndrome1 test
Birt-Hogg-Dube syndrome4 tests
Blau syndrome1 test
Bleeding disorder, platelet-type, 13, susceptibility to1 test
Blepharophimosis - intellectual disability syndrome, Ohdo type1 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome2 tests
Blood group, Gerbich system1 test
Bloom syndrome4 tests
BNAR syndrome1 test
Body mass index quantitative trait locus 41 test
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
Bohring-Opitz syndrome1 test
Bone osteosarcoma2 tests
Boomerang dysplasia1 test
Borjeson-Forssman-Lehmann syndrome2 tests
Bothnia retinal dystrophy1 test
Brachydactyly type A12 tests
Brachydactyly type A1C1 test
Brachydactyly type A1D1 test
Brachydactyly type B11 test
Brachydactyly type B22 tests
Brachydactyly type C1 test
Brachydactyly type D1 test
Brachydactyly type E12 tests
Brachydactyly type E22 tests
Brachydactyly-arterial hypertension syndrome1 test
Brachydactyly-syndactyly syndrome1 test
Brachyrachia (short spine dysplasia)1 test
Bradyopsia1 test
Brain small vessel disease 1 with or without ocular anomalies4 tests
Brain-lung-thyroid syndrome3 tests
Branchiooculofacial syndrome1 test
Branchiootic syndrome 12 tests
Branchiootic syndrome 32 tests
Branchiootorenal syndrome 13 tests
Branchiootorenal syndrome 22 tests
Breast-ovarian cancer, familial, susceptibility to, 17 tests
Breast-ovarian cancer, familial, susceptibility to, 27 tests
Breast-ovarian cancer, familial, susceptibility to, 33 tests
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Breasts and/or nipples, aplasia or hypoplasia of, 21 test
Brittle cornea syndrome 13 tests
Brittle cornea syndrome 23 tests
Brody myopathy3 tests
Brooke-Spiegler syndrome2 tests
Brown-Vialetto-van Laere syndrome 11 test
Bruck syndrome 12 tests
Bruck syndrome 23 tests
Brugada syndrome 13 tests
Brugada syndrome 23 tests
Brugada syndrome 34 tests
Brugada syndrome 43 tests
Brugada syndrome 54 tests
Brugada syndrome 64 tests
Brugada syndrome 74 tests
Brugada syndrome 84 tests
Brugada syndrome 92 tests
Bullous ichthyosiform erythroderma1 test
C syndrome1 test
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Camptomelic dysplasia4 tests
Candidiasis, familial, 62 tests
Capillary malformation-arteriovenous malformation 12 tests
CARASIL syndrome1 test
Carcinoid tumor of intestine1 test
Carcinoma of colon4 tests
Carcinoma of pancreas3 tests
Cardiac arrhythmia, ankyrin-B-related5 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
Cardiofaciocutaneous syndrome 13 tests
Cardiofaciocutaneous syndrome 22 tests
Cardiofaciocutaneous syndrome 33 tests
Cardiofaciocutaneous syndrome 43 tests
Cardiomyopathy, familial restrictive, 13 tests
Cardiomyopathy, familial restrictive, 33 tests
Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
Carney complex - trismus - pseudocamptodactyly syndrome1 test
Carney complex, type 12 tests
Carney-Stratakis syndrome3 tests
Carnitine acylcarnitine translocase deficiency3 tests
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyl transferase II deficiency, myopathic form4 tests
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Carpal tunnel syndrome1 test
Cataract 1 multiple types1 test
Cataract 10 multiple types1 test
Cataract 11 multiple types2 tests
Cataract 12 multiple types1 test
Cataract 13 with adult I phenotype1 test
Cataract 14 multiple types1 test
Cataract 15 multiple types1 test
Cataract 16 multiple types1 test
Cataract 17 multiple types1 test
Cataract 182 tests
Cataract 19 multiple types1 test
Cataract 2, multiple types1 test
Cataract 20 multiple types1 test
Cataract 21 multiple types1 test
Cataract 22 multiple types1 test
Cataract 231 test
Cataract 3 multiple types1 test
Cataract 301 test
Cataract 31 multiple types1 test
Cataract 331 test
Cataract 34 multiple types1 test
Cataract 361 test
Cataract 381 test
Cataract 39 multiple types1 test
Cataract 4 multiple types1 test
Cataract 402 tests
Cataract 5 multiple types1 test
Cataract 6 multiple types1 test
Cataract 9 multiple types1 test
Catecholaminergic polymorphic ventricular tachycardia 16 tests
Catecholaminergic polymorphic ventricular tachycardia 24 tests
Catecholaminergic polymorphic ventricular tachycardia 42 tests
Catecholaminergic polymorphic ventricular tachycardia 52 tests
CBL-related disorder2 tests
CEDNIK syndrome2 tests
Central core myopathy7 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 14 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 32 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 16 tests
Cerebral cavernous malformation5 tests
Cerebral cavernous malformation 23 tests
Cerebral cavernous malformation 33 tests
Cerebral folate transport deficiency2 tests
Cerebrooculofacioskeletal syndrome 41 test
Cerebroretinal microangiopathy with calcifications and cysts 13 tests
Cernunnos-XLF deficiency1 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)3 tests
Ceroid lipofuscinosis, neuronal, 6A5 tests
CFHR5 deficiency3 tests
Char syndrome1 test
Charcot-Marie-Tooth disease axonal type 2C6 tests
Charcot-Marie-Tooth disease axonal type 2F4 tests
Charcot-Marie-Tooth disease axonal type 2K5 tests
Charcot-Marie-Tooth disease axonal type 2L5 tests
Charcot-Marie-Tooth disease axonal type 2N5 tests
Charcot-Marie-Tooth disease axonal type 2O5 tests
Charcot-Marie-Tooth disease axonal type 2P3 tests
Charcot-Marie-Tooth disease axonal type 2S3 tests
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease axonal type 2V1 test
Charcot-Marie-Tooth disease dominant intermediate B5 tests
Charcot-Marie-Tooth disease dominant intermediate C3 tests
Charcot-Marie-Tooth disease dominant intermediate D2 tests
Charcot-Marie-Tooth disease dominant intermediate E3 tests
Charcot-Marie-Tooth disease recessive intermediate A3 tests
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease recessive intermediate C2 tests
Charcot-Marie-Tooth disease type 1B5 tests
Charcot-Marie-Tooth disease type 1C5 tests
Charcot-Marie-Tooth disease type 1D6 tests
Charcot-Marie-Tooth disease type 1E3 tests
Charcot-Marie-Tooth disease type 1F5 tests
Charcot-Marie-Tooth disease type 2A14 tests
Charcot-Marie-Tooth disease type 2A26 tests
Charcot-Marie-Tooth disease type 2B5 tests
Charcot-Marie-Tooth disease type 2B16 tests
Charcot-Marie-Tooth disease type 2B25 tests
Charcot-Marie-Tooth disease type 2D4 tests
Charcot-Marie-Tooth disease type 2E3 tests
Charcot-Marie-Tooth disease type 2I5 tests
Charcot-Marie-Tooth disease type 2J4 tests
Charcot-Marie-Tooth disease type 2Y1 test
Charcot-Marie-Tooth disease type 4A7 tests
Charcot-Marie-Tooth disease type 4B16 tests
Charcot-Marie-Tooth disease type 4B26 tests
Charcot-Marie-Tooth disease type 4C6 tests
Charcot-Marie-Tooth disease type 4D5 tests
Charcot-Marie-Tooth disease type 4E1 test
Charcot-Marie-Tooth disease type 4F5 tests
Charcot-Marie-Tooth disease type 4G2 tests
Charcot-Marie-Tooth disease type 4H4 tests
Charcot-Marie-Tooth disease type 4J3 tests
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease X-linked dominant 15 tests
Charcot-Marie-Tooth disease X-linked recessive 54 tests
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;3 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
Charcot-Marie-Tooth disease, type IA4 tests
CHARGE association5 tests
Charlevoix-Saguenay spastic ataxia2 tests
Child syndrome2 tests
Childhood apraxia of speech3 tests
Childhood hypophosphatasia3 tests
Childhood onset GLUT1 deficiency syndrome 22 tests
Chitotriosidase deficiency1 test
Cholestanol storage disease2 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Cholestasis, progressive familial intrahepatic, 41 test
Chondrocalcinosis 21 test
Chondrodysplasia Blomstrand type3 tests
Chondrodysplasia punctata 2 X-linked dominant3 tests
Chondrodysplasia with joint dislocations, gPAPP type2 tests
Chondrosarcoma1 test
Chorea-acanthocytosis2 tests
Choroid plexus papilloma1 test
Choroideremia2 tests
Christianson syndrome2 tests
Chromosome 2p16.3 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chromosome 2q37 deletion syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chudley-McCullough syndrome3 tests
Chuvash polycythemia2 tests
Chylomicron retention disease1 test
Chédiak-Higashi syndrome5 tests
CIDEC-related familial partial lipodystrophy1 test
Citrullinemia type I3 tests
Citrullinemia type II3 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Classic dopamine transporter deficiency syndrome1 test
Classic homocystinuria3 tests
Cleidocranial dysostosis2 tests
Clubfoot1 test
Cobalamin C disease4 tests
Cobblestone lissencephaly without muscular or ocular involvement1 test
Cockayne syndrome type 13 tests
Cockayne syndrome type 23 tests
Coenzyme Q10 deficiency, primary, 13 tests
Coenzyme Q10 deficiency, primary, 32 tests
Coffin-Lowry syndrome2 tests
Coffin-Siris syndrome 110 tests
Coffin-Siris syndrome 51 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 glycosylation2 tests
COG8-congenital disorder of glycosylation2 tests
Cohen syndrome5 tests
Colchicine resistance1 test
Cold-induced sweating syndrome 11 test
Cold-induced sweating syndrome 21 test
Coloboma of optic nerve1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness2 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
Colorectal cancer, hereditary nonpolyposis, type 29 tests
Colorectal cancer, hereditary nonpolyposis, type 61 test
Colorectal cancer, hereditary nonpolyposis, type 72 tests
Combined deficiency of sialidase AND beta galactosidase3 tests
Combined immunodeficiency due to DOCK8 deficiency2 tests
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to OX40 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 PSAP deficiency2 tests
Complement component 2 deficiency2 tests
Complement component 3 deficiency1 test
Complement factor b deficiency1 test
Complex cortical dysplasia with other brain malformations 13 tests
Complex cortical dysplasia with other brain malformations 73 tests
Compton-North congenital myopathy1 test
Cone dystrophy 31 test
Cone dystrophy 42 tests
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy 101 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 132 tests
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 163 tests
Cone-rod dystrophy 24 tests
Cone-rod dystrophy 32 tests
Cone-rod dystrophy 51 test
Cone-rod dystrophy 63 tests
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod synaptic disorder, congenital nonprogressive2 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency2 tests
Congenital adrenal hypoplasia, X-linked3 tests
Congenital afibrinogenemia2 tests
Congenital amegakaryocytic thrombocytopenia3 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation9 tests
Congenital contractural arachnodactyly7 tests
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital diarrhea 61 test
Congenital disorder of glycosylation type 1E2 tests
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia, type I2 tests
Congenital dyserythropoietic anemia, type II3 tests
Congenital fibrosis of extraocular muscles type 12 tests
Congenital generalized lipodystrophy type 12 tests
Congenital generalized lipodystrophy type 23 tests
Congenital generalized lipodystrophy type 31 test
Congenital generalized lipodystrophy type 43 tests
Congenital glucose-galactose malabsorption1 test
Congenital heart defects, multiple types, 61 test
Congenital hereditary endothelial dystrophy of cornea2 tests
Congenital hyperammonemia, type I2 tests
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital lactase deficiency1 test
Congenital lipoid adrenal hyperplasia due to STAR deficency3 tests
Congenital malabsorptive diarrhea 42 tests
Congenital microvillous atrophy2 tests
Congenital multicore myopathy with external ophthalmoplegia3 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency2 tests
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital muscular hypertrophy-cerebral syndrome3 tests
Congenital myasthenic syndrome 103 tests
Congenital myasthenic syndrome 112 tests
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 162 tests
Congenital myasthenic syndrome 2A4 tests
Congenital myasthenic syndrome 2C3 tests
Congenital myasthenic syndrome 3A3 tests
Congenital myasthenic syndrome 3B3 tests
Congenital myasthenic syndrome 3C3 tests
Congenital myasthenic syndrome 4A3 tests
Congenital myasthenic syndrome 4B3 tests
Congenital myasthenic syndrome 4C4 tests
Congenital myasthenic syndrome 53 tests
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 92 tests
Congenital myopathy 234 tests
Congenital myopathy 4B, autosomal recessive6 tests
Congenital myopathy with fiber type disproportion4 tests
Congenital myopathy with internal nuclei and atypical cores1 test
Congenital myotonia, autosomal dominant form5 tests
Congenital myotonia, autosomal recessive form3 tests
Congenital nongoitrous hypothryoidism 62 tests
Congenital ocular coloboma1 test
Congenital primary aphakia1 test
Congenital prothrombin deficiency1 test
Congenital reticular ichthyosiform erythroderma1 test
Congenital secretory diarrhea, chloride type1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital stationary night blindness 1A2 tests
Congenital stationary night blindness 1B1 test
Congenital stationary night blindness 1C1 test
Congenital stationary night blindness 1D1 test
Congenital stationary night blindness 1E1 test
Congenital stationary night blindness 1G1 test
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 11 test
Congenital stationary night blindness autosomal dominant 21 test
Congenital stationary night blindness autosomal dominant 31 test
Congenital stromal corneal dystrophy1 test
Conotruncal heart malformations2 tests
Constitutional megaloblastic anemia with severe neurologic disease1 test
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
Corneal dystrophy, Fuchs endothelial, 12 tests
Corneal dystrophy, Fuchs endothelial, 31 test
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, lattice type 3A1 test
Corneal dystrophy, Meesmann, 13 tests
Corneal dystrophy-perceptive deafness syndrome1 test
Cornelia de Lange syndrome 14 tests
Cornelia de Lange syndrome 32 tests
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Coronary heart disease, susceptibility to, 61 test
Cortical dysplasia-focal epilepsy syndrome3 tests
Corticosterone 18-monooxygenase deficiency1 test
Corticosterone methyloxidase type 2 deficiency1 test
Costello syndrome3 tests
Cowden syndrome 15 tests
Cowden syndrome 51 test
Cowden syndrome 61 test
Coxopodopatellar syndrome1 test
Craniofrontonasal syndrome4 tests
Craniometaphyseal dysplasia, autosomal dominant3 tests
Craniometaphyseal dysplasia, autosomal recessive2 tests
Craniosynostosis 22 tests
Craniosynostosis 5, susceptibility to1 test
Creatine transporter deficiency5 tests
Crigler-Najjar syndrome1 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome-acanthosis nigricans syndrome2 tests
Cryptosporidiosis-chronic cholangitis-liver disease syndrome2 tests
Currarino triad2 tests
Curry-Hall syndrome2 tests
Cutaneous porphyria2 tests
Cutis laxa with osteodystrophy4 tests
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
Cutis laxa, autosomal dominant 14 tests
Cutis laxa, autosomal dominant 22 tests
Cutis laxa, autosomal dominant 31 test
Cutis laxa, autosomal recessive, type 1A3 tests
Cutis laxa, autosomal recessive, type 1B2 tests
Cutis laxa, X-linked2 tests
Cyclical neutropenia1 test
CYP2C19-related poor drug metabolism1 test
Cystic fibrosis5 tests
Cystic leukoencephalopathy without megalencephaly2 tests
Cystinuria3 tests
D-2-hydroxyglutaric aciduria 11 test
D-2-hydroxyglutaric aciduria 22 tests
Dalmatian hypouricemia1 test
Danon disease8 tests
Deafness dystonia syndrome2 tests
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, X-linked 51 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome2 tests
Deafness-lymphedema-leukemia syndrome3 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of alpha-mannosidase3 tests
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of bisphosphoglycerate mutase1 test
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of butyrylcholinesterase1 test
Deficiency of cytochrome-b5 reductase2 tests
Deficiency of ferroxidase3 tests
Deficiency of galactokinase2 tests
Deficiency of guanidinoacetate methyltransferase2 tests
Deficiency of hyaluronoglucosaminidase4 tests
Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
Deficiency of iodide peroxidase3 tests
Deficiency of isobutyryl-CoA dehydrogenase1 test
Deficiency of steroid 11-beta-monooxygenase2 tests
Deficiency of steroid 17-alpha-monooxygenase4 tests
Deficiency of transaldolase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3 tests
Dejerine-Sottas disease3 tests
Dent disease type 11 test
Dent disease type 21 test
Dentatorubral-pallidoluysian atrophy1 test
Dentinogenesis imperfecta type 22 tests
Dentinogenesis imperfecta type 31 test
Desbuquois dysplasia 12 tests
Desmin-related myofibrillar myopathy5 tests
Desmoid disease, hereditary1 test
Desmosterolosis1 test
Developmental and epileptic encephalopathy, 16 tests
Developmental and epileptic encephalopathy, 116 tests
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 134 tests
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 163 tests
Developmental and epileptic encephalopathy, 193 tests
Developmental and epileptic encephalopathy, 29 tests
Developmental and epileptic encephalopathy, 242 tests
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 311 test
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 392 tests
Developmental and epileptic encephalopathy, 47 tests
Developmental and epileptic encephalopathy, 411 test
Developmental and epileptic encephalopathy, 423 tests
Developmental and epileptic encephalopathy, 432 tests
Developmental and epileptic encephalopathy, 461 test
Developmental and epileptic encephalopathy, 481 test
Developmental and epileptic encephalopathy, 53 tests
Developmental and epileptic encephalopathy, 523 tests
Developmental and epileptic encephalopathy, 74 tests
Developmental and epileptic encephalopathy, 84 tests
Developmental and epileptic encephalopathy, 95 tests
Developmental delay with autism spectrum disorder and gait instability3 tests
Developmental delay with short stature, dysmorphic facial features, and sparse hair1 test
Developmental malformations-deafness-dystonia syndrome1 test
Diabetes insipidus, nephrogenic, autosomal2 tests
Diabetes insipidus, nephrogenic, X-linked3 tests
Diabetes mellitus type 11 test
Diabetes mellitus, ketosis-prone1 test
Diabetes mellitus, noninsulin-dependent, 11 test
Diabetes mellitus, transient neonatal, 11 test
Diabetes mellitus, transient neonatal, 21 test
Diabetes mellitus, transient neonatal, 32 tests
Diamond-Blackfan anemia 15 tests
Diamond-Blackfan anemia 105 tests
Diamond-Blackfan anemia 111 test
Diamond-Blackfan anemia 34 tests
Diamond-Blackfan anemia 45 tests
Diamond-Blackfan anemia 55 tests
Diamond-Blackfan anemia 65 tests
Diamond-Blackfan anemia 75 tests
Diamond-Blackfan anemia 84 tests
Diamond-Blackfan anemia 94 tests
Diaphyseal dysplasia1 test
Diastrophic dysplasia3 tests
DICER1-related tumor predisposition2 tests
Diffuse nonepidermolytic palmoplantar keratoderma1 test
Dihydropyrimidine dehydrogenase deficiency2 tests
Dilated cardiomyopathy 1A7 tests
Dilated cardiomyopathy 1AA3 tests
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C6 tests
Dilated cardiomyopathy 1CC2 tests
Dilated cardiomyopathy 1D6 tests
Dilated cardiomyopathy 1DD3 tests
Dilated cardiomyopathy 1E5 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF3 tests
Dilated cardiomyopathy 1G4 tests
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I5 tests
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1J2 tests
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK3 tests
Dilated cardiomyopathy 1L2 tests
Dilated cardiomyopathy 1M2 tests
Dilated cardiomyopathy 1O2 tests
Dilated cardiomyopathy 1P3 tests
Dilated cardiomyopathy 1R4 tests
Dilated cardiomyopathy 1S5 tests
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy 1V1 test
Dilated cardiomyopathy 1W3 tests
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y4 tests
Dilated cardiomyopathy 1Z3 tests
Dilated cardiomyopathy 2A3 tests
Dilated cardiomyopathy 3B2 tests
Disorder due cytochrome p450 CYP2D6 variant1 test
Distal arthrogryposis type 2B15 tests
Distal myopathy with anterior tibial onset1 test
Distal myopathy with posterior leg and anterior hand involvement1 test
Distal myopathy, Tateyama type2 tests
Distichiasis-lymphedema syndrome2 tests
DK1-congenital disorder of glycosylation1 test
Donnai-Barrow syndrome1 test
DOORS syndrome1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency3 tests
Dowling-Degos disease 12 tests
Dowling-Degos disease 22 tests
Dowling-Degos disease 42 tests
Doyne honeycomb retinal dystrophy1 test
DPAGT1-congenital disorder of glycosylation1 test
DPM3-congenital disorder of glycosylation2 tests
Drash syndrome1 test
Duane retraction syndrome 21 test
Duane-radial ray syndrome2 tests
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy3 tests
Dyggve-Melchior-Clausen syndrome1 test
DYRK1A-related intellectual disability syndrome2 tests
Dyskeratosis congenita, autosomal dominant 14 tests
Dyskeratosis congenita, autosomal dominant 25 tests
Dyskeratosis congenita, autosomal dominant 34 tests
Dyskeratosis congenita, autosomal recessive 12 tests
Dyskeratosis congenita, autosomal recessive 22 tests
Dyskeratosis congenita, autosomal recessive 33 tests
Dyskeratosis congenita, X-linked4 tests
Dyskinesia with orofacial involvement, autosomal dominant1 test
Dystonia 122 tests
Dystonia 162 tests
Dystonia 241 test
Dystonia 251 test
Dystonia 271 test
Dystonia 54 tests
Dystonia 92 tests
Early myoclonic encephalopathy2 tests
Early-onset generalized limb-onset dystonia4 tests
Early-onset parkinsonism-intellectual disability syndrome1 test
EAST syndrome3 tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant4 tests
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive4 tests
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant4 tests
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive4 tests
Ectodermal dysplasia and immunodeficiency 12 tests
Ectodermal dysplasia and immunodeficiency 22 tests
Ectopia lentis 1, isolated, autosomal dominant1 test
Ectopia lentis 2, isolated, autosomal recessive2 tests
Ectopia lentis et pupillae2 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 34 tests
EDICT syndrome1 test
EEM syndrome2 tests
Efavirenz response1 test
Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
Ehlers-Danlos syndrome progeroid type2 tests
Ehlers-Danlos syndrome, arthrochalasia type3 tests
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Ehlers-Danlos syndrome, classic type8 tests
Ehlers-Danlos syndrome, dermatosparaxis type3 tests
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type3 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 14 tests
Ehlers-Danlos syndrome, musculocontractural type3 tests
Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
Ehlers-Danlos syndrome, type 32 tests
Ehlers-Danlos syndrome, type 45 tests
Eichsfeld type congenital muscular dystrophy2 tests
Eiken syndrome1 test
Elliptocytosis 12 tests
Elliptocytosis 21 test
Ellis-van Creveld syndrome4 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant7 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant4 tests
Encephalopathy due to GLUT1 deficiency4 tests
Encephalopathy, acute, infection-induced, susceptibility to, 41 test
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12 tests
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2 tests
Endometrial carcinoma4 tests
Enhanced S-cone syndrome1 test
Epidermodysplasia verruciformis, susceptibility to, 13 tests
Epidermolysis bullosa pruriginosa1 test
Epidermolysis bullosa simplex 1A, generalized severe3 tests
Epidermolysis bullosa simplex 1C, localized2 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2 tests
Epidermolysis bullosa simplex 5B, with muscular dystrophy2 tests
Epidermolysis bullosa simplex 5C, with pyloric atresia2 tests
Epidermolysis bullosa simplex with migratory circinate erythema1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex, Koebner type2 tests
Epidermolysis bullosa simplex, Ogna type1 test
Epidermolytic palmoplantar keratoderma6 tests
Epilepsy, childhood absence 22 tests
Epilepsy, childhood absence, susceptibility to, 51 test
Epilepsy, childhood absence, susceptibility to, 63 tests
Epilepsy, familial adult myoclonic, 21 test
Epilepsy, familial adult myoclonic, 51 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial temporal lobe, 13 tests
Epilepsy, idiopathic generalized, susceptibility to, 103 tests
Epilepsy, idiopathic generalized, susceptibility to, 111 test
Epilepsy, idiopathic generalized, susceptibility to, 122 tests
Epilepsy, idiopathic generalized, susceptibility to, 133 tests
Epilepsy, idiopathic generalized, susceptibility to, 92 tests
Epilepsy, progressive myoclonic, 1B1 test
Epiphyseal dysplasia, multiple, 23 tests
Epiphyseal dysplasia, multiple, 32 tests
Epiphyseal dysplasia, multiple, 63 tests
Episodic ataxia type 15 tests
Episodic ataxia type 25 tests
Episodic ataxia type 52 tests
Episodic ataxia type 62 tests
Episodic kinesigenic dyskinesia 11 test
Episodic pain syndrome, familial, 23 tests
Epithelial basement membrane dystrophy1 test
Erythrocyte AMP deaminase deficiency1 test
Erythrocytosis, familial, 32 tests
Erythrocytosis, familial, 43 tests
Erythrokeratodermia variabilis et progressiva 13 tests
Erythrokeratodermia variabilis et progressiva 22 tests
Erythrokeratodermia variabilis et progressiva 31 test
Essential hypertension1 test
Ethylmalonic encephalopathy1 test
Euthyroid goiter3 tests
Exercise-induced hyperinsulinism2 tests
Exostoses, multiple, type 23 tests
Exudative retinopathy1 test
Exudative vitreoretinopathy 13 tests
Exudative vitreoretinopathy 2, X-linked3 tests
Exudative vitreoretinopathy 43 tests
Exudative vitreoretinopathy 51 test
Fabry disease6 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 VII deficiency2 tests
Factor X deficiency1 test
Factor XII deficiency disease2 tests
Factor XIII, A subunit, deficiency of3 tests
Factor XIII, b subunit, deficiency of2 tests
FADD-related immunodeficiency1 test
Familial acute necrotizing encephalopathy1 test
Familial adenomatous polyposis 19 tests
Familial adenomatous polyposis 27 tests
Familial adenomatous polyposis 31 test
Familial adenomatous polyposis 41 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial amyloid neuropathy6 tests
Familial apolipoprotein C-II deficiency2 tests
Familial atrial myxoma1 test
Familial benign pemphigus2 tests
Familial cancer of breast9 tests
Familial cold autoinflammatory syndrome 12 tests
Familial cold autoinflammatory syndrome 21 test
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
Familial cylindromatosis1 test
Familial digital arthropathy-brachydactyly1 test
Familial dysautonomia2 tests
Familial dysfibrinogenemia2 tests
Familial episodic pain syndrome with predominantly upper body involvement1 test
Familial expansile osteolysis1 test
Familial gestational hyperthyroidism1 test
Familial hemophagocytic lymphohistiocytosis 22 tests
Familial hemophagocytic lymphohistiocytosis 32 tests
Familial hemophagocytic lymphohistiocytosis 42 tests
Familial hemophagocytic lymphohistiocytosis 53 tests
Familial hyperaldosteronism type III1 test
Familial hyperthyroidism due to mutations in TSH receptor2 tests
Familial hypobetalipoproteinemia 11 test
Familial hypobetalipoproteinemia 21 test
Familial hypocalciuric hypercalcemia 15 tests
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 32 tests
Familial hypokalemia-hypomagnesemia4 tests
Familial hypoparathyroidism2 tests
Familial infantile myasthenia3 tests
Familial isolated deficiency of vitamin E2 tests
Familial juvenile hyperuricemic nephropathy type 14 tests
Familial juvenile hyperuricemic nephropathy type 21 test
Familial Mediterranean fever5 tests
Familial Mediterranean fever, autosomal dominant3 tests
Familial medullary thyroid carcinoma3 tests
Familial meningioma6 tests
Familial multiple trichoepitheliomata1 test
Familial partial lipodystrophy, Dunnigan type2 tests
Familial porphyria cutanea tarda2 tests
Familial pulmonary capillary hemangiomatosis1 test
Familial renal glucosuria1 test
Familial scaphocephaly syndrome, McGillivray type1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
Familial temporal lobe epilepsy 51 test
Familial temporal lobe epilepsy 71 test
Familial thyroid dyshormonogenesis 13 tests
Familial type 3 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type3 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets4 tests
Fanconi anemia complementation group A5 tests
Fanconi anemia complementation group B4 tests
Fanconi anemia complementation group C5 tests
Fanconi anemia complementation group D14 tests
Fanconi anemia complementation group D23 tests
Fanconi anemia complementation group E3 tests
Fanconi anemia complementation group F3 tests
Fanconi anemia complementation group G4 tests
Fanconi anemia complementation group I3 tests
Fanconi anemia complementation group J3 tests
Fanconi anemia complementation group L3 tests
Fanconi anemia complementation group N4 tests
Fanconi anemia complementation group O3 tests
Fanconi anemia complementation group P3 tests
Fanconi anemia complementation group Q2 tests
Fanconi anemia complementation group U1 test
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
Fanconi-Bickel syndrome2 tests
Farber lipogranulomatosis3 tests
Fatal infantile hypertonic myofibrillar myopathy1 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Fatty acyl-CoA reductase 1 deficiency1 test
Febrile seizures, familial, 85 tests
Feingold syndrome type 12 tests
Feingold syndrome type 21 test
Fetal akinesia deformation sequence 13 tests
Fetal hemoglobin quantitative trait locus 12 tests
FG syndrome 14 tests
FG syndrome 22 tests
FG syndrome 41 test
Fibrochondrogenesis 13 tests
Fibrochondrogenesis 23 tests
Fibrosis of extraocular muscles, congenital, 23 tests
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement2 tests
Fibrosis of extraocular muscles, congenital, 52 tests
Fibrous dysplasia of jaw1 test
Finnish congenital nephrotic syndrome3 tests
Fleck corneal dystrophy1 test
Floating-Harbor syndrome1 test
Focal dermal hypoplasia1 test
Focal facial dermal dysplasia type III1 test
Focal segmental glomerulosclerosis 12 tests
Focal segmental glomerulosclerosis 23 tests
Focal segmental glomerulosclerosis 3, susceptibility to3 tests
Focal segmental glomerulosclerosis 53 tests
Focal segmental glomerulosclerosis 63 tests
Focal segmental glomerulosclerosis 71 test
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
Foveal hypoplasia 12 tests
Fragile X syndrome2 tests
Frank-Ter Haar syndrome1 test
Fraser syndrome 14 tests
Fraser syndrome 21 test
Fraser syndrome 31 test
FRAXE2 tests
Freeman-Sheldon syndrome2 tests
Friedreich ataxia 14 tests
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome2 tests
Frontonasal dysplasia with alopecia and genital anomaly2 tests
Frontorhiny2 tests
Frontotemporal dementia4 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
Fructose-biphosphatase deficiency3 tests
Fucosidosis3 tests
Fuhrmann syndrome2 tests
Galactosylceramide beta-galactosidase deficiency5 tests
Gamma-aminobutyric acid transaminase deficiency1 test
Gastrointestinal stromal tumor3 tests
Gaucher disease due to saposin C deficiency2 tests
Gaucher disease type I4 tests
Gaucher disease type II3 tests
Gaucher disease type III3 tests
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome2 tests
Gaze palsy, familial horizontal, with progressive scoliosis 12 tests
Geleophysic dysplasia 11 test
Generalized dominant dystrophic epidermolysis bullosa3 tests
Generalized epilepsy with febrile seizures plus, type 15 tests
Generalized epilepsy with febrile seizures plus, type 24 tests
Generalized epilepsy with febrile seizures plus, type 74 tests
Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
Generalized juvenile polyposis/juvenile polyposis coli7 tests
Generalized pustular psoriasis1 test
Genitopatellar syndrome1 test
Geroderma osteodysplastica2 tests
Giant axonal neuropathy 12 tests
Gilbert syndrome1 test
Glanzmann thrombasthenia4 tests
Glaucoma 1, open angle, A2 tests
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G2 tests
Glaucoma 1, open angle, O1 test
Glaucoma 3, primary congenital, D2 tests
Glaucoma 3A3 tests
Glaucoma, normal tension, susceptibility to1 test
Glioma susceptibility 15 tests
Glioma susceptibility 22 tests
Glioma susceptibility 32 tests
Globozoospermia2 tests
Glomuvenous malformation1 test
Glucocorticoid deficiency 11 test
Glucocorticoid deficiency 21 test
Glucocorticoid deficiency with achalasia2 tests
Glucocorticoid resistance1 test
Glucose-6-phosphate transport defect5 tests
Glutaric aciduria, type 13 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
Glycogen storage disease due to muscle and heart glycogen synthase deficiency2 tests
Glycogen storage disease due to muscle beta-enolase deficiency1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease IXa13 tests
Glycogen storage disease IXb2 tests
Glycogen storage disease IXc1 test
Glycogen storage disease IXd4 tests
Glycogen storage disease type III5 tests
Glycogen storage disease type X2 tests
Glycogen storage disease XV1 test
Glycogen storage disease, type II11 tests
Glycogen storage disease, type IV4 tests
Glycogen storage disease, type V5 tests
Glycogen storage disease, type VI2 tests
Glycogen storage disease, type VII3 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
GM1 gangliosidosis type 23 tests
GM1 gangliosidosis type 33 tests
GM3 synthase deficiency1 test
GNE myopathy4 tests
GNPTG-mucolipidosis5 tests
Goldberg-Shprintzen syndrome1 test
Gordon syndrome1 test
Gorlin syndrome5 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative4 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 13 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 24 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 33 tests
Granulomatous disease, chronic, X-linked4 tests
Greenberg dysplasia2 tests
Greig cephalopolysyndactyly syndrome2 tests
Griscelli syndrome type 13 tests
Griscelli syndrome type 26 tests
Griscelli syndrome type 31 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions4 tests
Groenouw corneal dystrophy type I1 test
Growth delay due to insulin-like growth factor I resistance2 tests
Growth delay due to insulin-like growth factor type 1 deficiency2 tests
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
GTP cyclohydrolase I deficiency1 test
Guillain-Barre syndrome, familial1 test
H syndrome1 test
Haim-Munk syndrome1 test
Hand-foot-genital syndrome2 tests
Hearing loss, X-linked 11 test
Hearing loss, X-linked 41 test
Hearing loss, X-linked 61 test
Hecht syndrome2 tests
Heimler syndrome 12 tests
Heimler syndrome 22 tests
Hemochromatosis type 12 tests
Hemochromatosis type 2A2 tests
Hemochromatosis type 2B2 tests
Hemochromatosis type 34 tests
Hemochromatosis type 42 tests
Hemochromatosis type 52 tests
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 15 tests
Hemorrhage, intracerebral, susceptibility to1 test
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hepatic adenomas, familial1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary angioedema type 12 tests
Hereditary antithrombin deficiency3 tests
Hereditary cerebral amyloid angiopathy, Icelandic type1 test
Hereditary coproporphyria3 tests
Hereditary cryohydrocytosis with reduced stomatin1 test
Hereditary diffuse gastric adenocarcinoma4 tests
Hereditary diffuse leukoencephalopathy with spheroids2 tests
Hereditary factor IX deficiency disease3 tests
Hereditary factor VIII deficiency disease3 tests
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria4 tests
Hereditary hyperferritinemia with congenital cataracts2 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary intrinsic factor deficiency1 test
Hereditary leiomyomatosis and renal cell cancer5 tests
Hereditary liability to pressure palsies2 tests
Hereditary lymphedema type I3 tests
Hereditary motor and sensory neuropathy with optic atrophy3 tests
Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
Hereditary neutrophilia1 test
Hereditary pancreatitis8 tests
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary spastic paraplegia 103 tests
Hereditary spastic paraplegia 113 tests
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 133 tests
Hereditary spastic paraplegia 152 tests
Hereditary spastic paraplegia 174 tests
Hereditary spastic paraplegia 182 tests
Hereditary spastic paraplegia 24 tests
Hereditary spastic paraplegia 303 tests
Hereditary spastic paraplegia 313 tests
Hereditary spastic paraplegia 356 tests
Hereditary spastic paraplegia 393 tests
Hereditary spastic paraplegia 3A3 tests
Hereditary spastic paraplegia 45 tests
Hereditary spastic paraplegia 422 tests
Hereditary spastic paraplegia 443 tests
Hereditary spastic paraplegia 472 tests
Hereditary spastic paraplegia 483 tests
Hereditary spastic paraplegia 502 tests
Hereditary spastic paraplegia 513 tests
Hereditary spastic paraplegia 5A3 tests
Hereditary spastic paraplegia 63 tests
Hereditary spastic paraplegia 73 tests
Hereditary spastic paraplegia 83 tests
Hereditary spherocytosis type 12 tests
Hereditary spherocytosis type 22 tests
Hereditary spherocytosis type 32 tests
Hereditary spherocytosis type 42 tests
Hereditary spherocytosis type 52 tests
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX13 tests
Hereditary xanthinuria type 11 test
Hermansky-Pudlak syndrome 13 tests
Hermansky-Pudlak syndrome 26 tests
Hermansky-Pudlak syndrome 33 tests
Hermansky-Pudlak syndrome 43 tests
Hermansky-Pudlak syndrome 53 tests
Hermansky-Pudlak syndrome 63 tests
Hermansky-Pudlak syndrome 73 tests
Hermansky-Pudlak syndrome 83 tests
Hermansky-Pudlak syndrome 93 tests
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 5, autosomal3 tests
Heterotaxy, visceral, 8, autosomal1 test
Heterotopia, periventricular, X-linked dominant1 test
Hidrotic ectodermal dysplasia syndrome2 tests
Hirschsprung disease, cardiac defects, and autonomic dysfunction2 tests
Hirschsprung disease, susceptibility to, 12 tests
Hirschsprung disease, susceptibility to, 21 test
Hirschsprung disease, susceptibility to, 31 test
Hirschsprung disease, susceptibility to, 41 test
Histiocytic medullary reticulosis5 tests
Holocarboxylase synthetase deficiency1 test
Holoprosencephaly 112 tests
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
Holoprosencephaly 42 tests
Holoprosencephaly 52 tests
Holoprosencephaly 72 tests
Holoprosencephaly 93 tests
Holt-Oram syndrome3 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
Houge-Janssens syndrome 22 tests
HSD10 mitochondrial disease1 test
Human HOXA1 syndromes1 test
Huppke-Brendel syndrome1 test
Hurler syndrome3 tests
Hutchinson-Gilford syndrome1 test
Hyaline fibromatosis syndrome1 test
Hydatidiform mole, recurrent, 11 test
Hydrocephalus, nonsyndromic, autosomal recessive 11 test
Hydrocephalus, nonsyndromic, autosomal recessive 21 test
Hydrolethalus syndrome 11 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyper-IgM syndrome type 14 tests
Hyper-IgM syndrome type 23 tests
Hyper-IgM syndrome type 33 tests
Hyper-IgM syndrome type 52 tests
Hyperaldosteronism, familial, type IV1 test
Hyperammonemia, type III1 test
Hypercalcemia, infantile, 21 test
Hypercholanemia, familial 11 test
Hypercholesterolemia, autosomal dominant, 33 tests
Hypercholesterolemia, autosomal dominant, type B4 tests
Hypercholesterolemia, familial, 13 tests
Hypercholesterolemia, familial, 42 tests
Hyperekplexia 14 tests
Hyperekplexia 23 tests
Hyperekplexia 33 tests
Hyperglycinuria1 test
Hyperimmunoglobulin D with periodic fever4 tests
Hyperinsulinemic hypoglycemia, familial, 15 tests
Hyperinsulinemic hypoglycemia, familial, 24 tests
Hyperinsulinemic hypoglycemia, familial, 43 tests
Hyperinsulinism due to glucokinase deficiency3 tests
Hyperinsulinism due to INSR deficiency3 tests
Hyperinsulinism-hyperammonemia syndrome5 tests
Hyperkalemic periodic paralysis5 tests
Hyperlipidemia, combined, 11 test
Hyperlipoproteinemia, type 1D1 test
Hyperlipoproteinemia, type I3 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome3 tests
Hyperparathyroidism 2 with jaw tumors2 tests
Hyperphosphatasemia with bone disease2 tests
Hyperprolinemia type 21 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertriglyceridemia 13 tests
Hypertrophic cardiomyopathy 14 tests
Hypertrophic cardiomyopathy 102 tests
Hypertrophic cardiomyopathy 114 tests
Hypertrophic cardiomyopathy 122 tests
Hypertrophic cardiomyopathy 133 tests
Hypertrophic cardiomyopathy 142 tests
Hypertrophic cardiomyopathy 152 tests
Hypertrophic cardiomyopathy 162 tests
Hypertrophic cardiomyopathy 172 tests
Hypertrophic cardiomyopathy 183 tests
Hypertrophic cardiomyopathy 191 test
Hypertrophic cardiomyopathy 25 tests
Hypertrophic cardiomyopathy 202 tests
Hypertrophic cardiomyopathy 253 tests
Hypertrophic cardiomyopathy 263 tests
Hypertrophic cardiomyopathy 33 tests
Hypertrophic cardiomyopathy 44 tests
Hypertrophic cardiomyopathy 64 tests
Hypertrophic cardiomyopathy 74 tests
Hypertrophic cardiomyopathy 82 tests
Hypertrophic cardiomyopathy 94 tests
Hypertrophic osteoarthropathy, primary, autosomal recessive, 12 tests
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
Hypoagammaglobulinemia, X-linked1 test
Hypochondroplasia5 tests
Hypogonadotropic hypogonadism 1 with or without anosmia3 tests
Hypogonadotropic hypogonadism 10 with or without anosmia2 tests
Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 15 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia3 tests
Hypogonadotropic hypogonadism 24 without anosmia2 tests
Hypogonadotropic hypogonadism 3 with or without anosmia2 tests
Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
Hypogonadotropic hypogonadism 6 with or without anosmia4 tests
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia4 tests
Hypokalemic periodic paralysis, type 14 tests
Hypokalemic periodic paralysis, type 23 tests
Hypomagnesemia, seizures, and intellectual disability 12 tests
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
Hypomyelinating leukodystrophy 22 tests
Hypomyelinating leukodystrophy 31 test
Hypomyelinating leukodystrophy 42 tests
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism3 tests
Hypomyelination and Congenital Cataract3 tests
Hypoparathyroidism, deafness, renal disease syndrome2 tests
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypophosphatemic nephrolithiasis/osteoporosis 12 tests
Hypophosphatemic nephrolithiasis/osteoporosis 21 test
Hypophosphatemic rickets, autosomal recessive, 13 tests
Hypophosphatemic rickets, autosomal recessive, 22 tests
Hypophosphatemic rickets, X-linked recessive1 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypospadias 1, X-linked1 test
Hypospadias 2, X-linked1 test
Hypothyroidism due to TSH receptor mutations3 tests
Hypothyroidism, congenital, nongoitrous, 21 test
Hypothyroidism, congenital, nongoitrous, 52 tests
Hypotrichosis 11 test
Hypotrichosis 121 test
Hypotrichosis 21 test
Hypotrichosis 31 test
Hypotrichosis 41 test
Hypotrichosis 61 test
Hypotrichosis 71 test
Hypotrichosis 81 test
Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
Hypouricemia, renal, 21 test
Ichthyosis bullosa of Siemens2 tests
Ichthyosis hystrix of Curth-Macklin1 test
Ichthyosis prematurity syndrome1 test
Ichthyosis vulgaris3 tests
Idiopathic basal ganglia calcification 11 test
Idiopathic CD4 lymphocytopenia1 test
IFAP syndrome 1, with or without BRESHECK syndrome1 test
IgE responsiveness, atopic1 test
IL21-related infantile inflammatory bowel disease2 tests
Imerslund-Grasbeck syndrome3 tests
Iminoglycinuria1 test
Immunodeficiency 1042 tests
Immunodeficiency 142 tests
Immunodeficiency 181 test
Immunodeficiency 191 test
Immunodeficiency 31B2 tests
Immunodeficiency 332 tests
Immunodeficiency 361 test
Immunodeficiency 511 test
Immunodeficiency due to CD25 deficiency1 test
Immunodeficiency, common variable, 13 tests
Immunodeficiency, common variable, 121 test
Immunodeficiency, common variable, 22 tests
Immunodeficiency, common variable, 41 test
Immunodeficiency, common variable, 51 test
Immunodeficiency, common variable, 61 test
Immunodeficiency, common variable, 71 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 12 tests
Incontinentia pigmenti syndrome3 tests
Infantile convulsions and choreoathetosis1 test
Infantile GM1 gangliosidosis3 tests
Infantile hypophosphatasia3 tests
Infantile nephronophthisis2 tests
Infantile neuroaxonal dystrophy3 tests
Infantile onset spinocerebellar ataxia1 test
Infantile-onset ascending hereditary spastic paralysis3 tests
Infantile-onset generalized dyskinesia with orofacial involvement1 test
Infantile-onset X-linked spinal muscular atrophy5 tests
Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
Inflammatory bowel disease 14 tests
Inflammatory bowel disease 101 test
Inflammatory bowel disease 131 test
Inflammatory bowel disease 171 test
Inflammatory bowel disease 181 test
Inflammatory bowel disease 191 test
Inflammatory bowel disease 251 test
Inflammatory bowel disease 281 test
Inflammatory skin and bowel disease, neonatal, 11 test
Inherited Creutzfeldt-Jakob disease1 test
Inherited glutathione synthetase deficiency1 test
Inherited susceptibility to asthma2 tests
Inosine triphosphatase deficiency1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
Intellectual developmental disorder with autism and macrocephaly1 test
Intellectual disability, anterior maxillary protrusion, and strabismus2 tests
Intellectual disability, autosomal dominant 13 tests
Intellectual disability, autosomal dominant 102 tests
Intellectual disability, autosomal dominant 112 tests
Intellectual disability, autosomal dominant 135 tests
Intellectual disability, autosomal dominant 144 tests
Intellectual disability, autosomal dominant 153 tests
Intellectual disability, autosomal dominant 163 tests
Intellectual disability, autosomal dominant 204 tests
Intellectual disability, autosomal dominant 222 tests
Intellectual disability, autosomal dominant 242 tests
Intellectual disability, autosomal dominant 292 tests
Intellectual disability, autosomal dominant 32 tests
Intellectual disability, autosomal dominant 302 tests
Intellectual disability, autosomal dominant 333 tests
Intellectual disability, autosomal dominant 392 tests
Intellectual disability, autosomal dominant 43 tests
Intellectual disability, autosomal dominant 412 tests
Intellectual disability, autosomal dominant 422 tests
Intellectual disability, autosomal dominant 53 tests
Intellectual disability, autosomal dominant 63 tests
Intellectual disability, autosomal dominant 83 tests
Intellectual disability, autosomal dominant 92 tests
Intellectual disability, autosomal recessive 12 tests
Intellectual disability, autosomal recessive 122 tests
Intellectual disability, autosomal recessive 132 tests
Intellectual disability, autosomal recessive 142 tests
Intellectual disability, autosomal recessive 182 tests
Intellectual disability, autosomal recessive 22 tests
Intellectual disability, autosomal recessive 272 tests
Intellectual disability, autosomal recessive 32 tests
Intellectual disability, autosomal recessive 342 tests
Intellectual disability, autosomal recessive 432 tests
Intellectual disability, autosomal recessive 462 tests
Intellectual disability, autosomal recessive 472 tests
Intellectual disability, autosomal recessive 52 tests
Intellectual disability, autosomal recessive 562 tests
Intellectual disability, autosomal recessive 62 tests
Intellectual disability, autosomal recessive 73 tests
Intellectual disability, X-linked 192 tests
Intellectual disability, X-linked 212 tests
Intellectual disability, X-linked 302 tests
Intellectual disability, X-linked 412 tests
Intellectual disability, X-linked 451 test
Intellectual disability, X-linked 462 tests
Intellectual disability, X-linked 582 tests
Intellectual disability, X-linked 632 tests
Intellectual disability, X-linked 721 test
Intellectual disability, X-linked 881 test
Intellectual disability, X-linked 891 test
Intellectual disability, X-linked 92 tests
Intellectual disability, X-linked 902 tests
Intellectual disability, X-linked 921 test
Intellectual disability, X-linked 932 tests
Intellectual disability, X-linked 962 tests
Intellectual disability, X-linked 972 tests
Intellectual disability, X-linked syndromic, Turner type2 tests
Intellectual disability, X-linked, with or without seizures, arx-related4 tests
Intellectual disability, X-linked, with panhypopituitarism2 tests
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2 tests
Intellectual disability-hypotonic facies syndrome, X-linked, 13 tests
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2 tests
Intellectual disability-severe speech delay-mild dysmorphism syndrome3 tests
Interstitial lung disease 21 test
Interstitial lung disease due to ABCA3 deficiency3 tests
Intestinal hypomagnesemia 12 tests
Iodotyrosine deiodination defect3 tests
Iodotyrosyl coupling defect3 tests
Irido-corneo-trabecular dysgenesis2 tests
Isolated focal non-epidermolytic palmoplantar keratoderma1 test
Isolated growth hormone deficiency type IB3 tests
Isolated lutropin deficiency1 test
Isolated microphthalmia 23 tests
Isolated microphthalmia 31 test
Isolated microphthalmia 41 test
Isolated microphthalmia 51 test
Isolated microphthalmia 61 test
Isolated microphthalmia 71 test
Isolated optic nerve hypoplasia2 tests
Isolated thyroid-stimulating hormone deficiency2 tests
Isovaleryl-CoA dehydrogenase deficiency2 tests
Jackson-Weiss syndrome3 tests
Jalili syndrome1 test
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Johanson-Blizzard syndrome1 test
Joubert syndrome 12 tests
Joubert syndrome 102 tests
Joubert syndrome 141 test
Joubert syndrome 151 test
Joubert syndrome 161 test
Joubert syndrome 171 test
Joubert syndrome 22 tests
Joubert syndrome 33 tests
Joubert syndrome 52 tests
Joubert syndrome 61 test
Joubert syndrome 73 tests
Joubert syndrome 82 tests
Joubert syndrome 92 tests
Junctional epidermolysis bullosa gravis of Herlitz5 tests
Junctional epidermolysis bullosa with pyloric atresia2 tests
Junctional epidermolysis bullosa, non-Herlitz type5 tests
Juvenile cataract-microcornea-renal glucosuria syndrome1 test
Juvenile myelomonocytic leukemia2 tests
Juvenile myoclonic epilepsy3 tests
Juvenile nephropathic cystinosis4 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome5 tests
Juvenile retinoschisis2 tests
Kabuki syndrome 13 tests
Kabuki syndrome 23 tests
Kartagener syndrome2 tests
KBG syndrome2 tests
Keratoconus 12 tests
Keratosis follicularis1 test
Keratosis follicularis spinulosa decalvans, X-linked2 tests
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
Keratosis palmoplantaris striata 31 test
Keutel syndrome1 test
Kindler syndrome1 test
Kleefstra syndrome 13 tests
Klippel-Feil syndrome 1, autosomal dominant2 tests
Klippel-Feil syndrome 2, autosomal recessive2 tests
Klippel-Feil syndrome 3, autosomal dominant2 tests
Kniest dysplasia2 tests
Koolen-de Vries syndrome3 tests
Kostmann syndrome4 tests
Krabbe disease due to saposin A deficiency1 test
Kufor-Rakeb syndrome3 tests
Kugelberg-Welander disease3 tests
Lafora disease5 tests
Lamb-Shaffer syndrome1 test
LAMB2-related infantile-onset nephrotic syndrome2 tests
Landau-Kleffner syndrome1 test
Laron-type isolated somatotropin defect1 test
Larsen syndrome4 tests
Larsen-like syndrome, B3GAT3 type1 test
Late-onset retinal degeneration1 test
Lattice corneal dystrophy Type I2 tests
Lattice corneal dystrophy Type III1 test
LCAT deficiency1 test
Leber congenital amaurosis 12 tests
Leber congenital amaurosis 102 tests
Leber congenital amaurosis 111 test
Leber congenital amaurosis 121 test
Leber congenital amaurosis 135 tests
Leber congenital amaurosis 143 tests
Leber congenital amaurosis 151 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 22 tests
Leber congenital amaurosis 33 tests
Leber congenital amaurosis 42 tests
Leber congenital amaurosis 51 test
Leber congenital amaurosis 62 tests
Leber congenital amaurosis 71 test
Leber congenital amaurosis 81 test
Leber congenital amaurosis 91 test
Left ventricular noncompaction 12 tests
Left ventricular noncompaction 104 tests
Legius syndrome4 tests
Leigh syndrome1 test
LEOPARD syndrome 17 tests
LEOPARD syndrome 22 tests
LEOPARD syndrome 33 tests
Leprechaunism syndrome1 test
Leri-Weill dyschondrosteosis2 tests
Lesch-Nyhan syndrome3 tests
Lethal congenital contracture syndrome 12 tests
Lethal congenital glycogen storage disease of heart2 tests
Lethal Kniest-like syndrome1 test
Lethal multiple pterygium syndrome1 test
Lethal osteosclerotic bone dysplasia1 test
Lethal tight skin contracture syndrome2 tests
Leukocyte adhesion deficiency 11 test
Leukocyte adhesion deficiency type II2 tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
Levy-Hollister syndrome1 test
Leydig cell agenesis2 tests
Li-Fraumeni syndrome 16 tests
Li-Fraumeni syndrome 23 tests
Liddle syndrome 13 tests
Linear skin defects with multiple congenital anomalies 11 test
Lipase deficiency, combined3 tests
Lissencephaly 43 tests
Lissencephaly due to LIS1 mutation5 tests
Lissencephaly due to TUBA1A mutation4 tests
Lissencephaly type 1 due to doublecortin gene mutation4 tests
Loeys-Dietz syndrome 16 tests
Loeys-Dietz syndrome 26 tests
Loeys-Dietz syndrome 43 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
Long QT syndrome 15 tests
Long QT syndrome 104 tests
Long QT syndrome 113 tests
Long QT syndrome 123 tests
Long QT syndrome 132 tests
Long QT syndrome 142 tests
Long QT syndrome 25 tests
Long QT syndrome 34 tests
Long QT syndrome 54 tests
Long QT syndrome 64 tests
Long QT syndrome 93 tests
Loricrin keratoderma3 tests
Lowe syndrome3 tests
Lung carcinoma3 tests
Lymphangiomyomatosis2 tests
Lymphatic malformation 31 test
Lymphatic malformation 41 test
Lymphoproliferative syndrome 13 tests
Lymphoproliferative syndrome 21 test
Lynch syndrome 19 tests
Lynch syndrome 49 tests
Lynch syndrome 510 tests
Lynch syndrome 89 tests
Lysinuric protein intolerance2 tests
Lysosomal acid lipase deficiency3 tests
Macrocephaly and epileptic encephalopathy1 test
Macrocephaly-autism syndrome1 test
Macrocephaly-developmental delay syndrome1 test
Macroglobulinemia, Waldenstrom, 11 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
Macular corneal dystrophy1 test
Macular degeneration, age-related, 31 test
Macular degeneration, early-onset1 test
Majeed syndrome2 tests
Malan overgrowth syndrome2 tests
Malignant hyperthermia, susceptibility to, 16 tests
Malignant hyperthermia, susceptibility to, 51 test
Malignant tumor of prostate2 tests
Malignant tumor of urinary bladder2 tests
Mandibuloacral dysplasia with type B lipodystrophy1 test
Mandibulofacial dysostosis-microcephaly syndrome2 tests
Mannose-binding lectin deficiency1 test
Maple syrup urine disease2 tests
Marfan syndrome6 tests
Marinesco-Sjögren syndrome4 tests
Marshall syndrome1 test
Marshall-Smith syndrome2 tests
MASA syndrome3 tests
Mast syndrome1 test
Mastocytosis1 test
Maternal riboflavin deficiency1 test
Matthew-Wood syndrome2 tests
Maturity-onset diabetes of the young type 14 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 131 test
Maturity-onset diabetes of the young type 24 tests
Maturity-onset diabetes of the young type 33 tests
Maturity-onset diabetes of the young type 43 tests
Maturity-onset diabetes of the young type 63 tests
Maturity-onset diabetes of the young type 73 tests
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 92 tests
McCune-Albright syndrome3 tests
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome2 tests
Meckel syndrome, type 12 tests
Meckel syndrome, type 101 test
Meckel syndrome, type 22 tests
Meckel syndrome, type 32 tests
Meckel syndrome, type 41 test
Meckel syndrome, type 52 tests
Meckel syndrome, type 62 tests
Meckel syndrome, type 81 test
Meckel syndrome, type 91 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
MEDNIK syndrome1 test
Medulloblastoma2 tests
Megaconial type congenital muscular dystrophy1 test
Megalencephalic leukoencephalopathy with subcortical cysts 14 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A3 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2 tests
Megalencephaly-capillary malformation-polymicrogyria syndrome3 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 14 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness3 tests
MEGF10-related myopathy1 test
Meier-Gorlin syndrome 13 tests
Meier-Gorlin syndrome 22 tests
Meier-Gorlin syndrome 32 tests
Meier-Gorlin syndrome 42 tests
Meier-Gorlin syndrome 52 tests
Melanoma and neural system tumor syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 12 tests
Melanoma, cutaneous malignant, susceptibility to, 24 tests
Melanoma, cutaneous malignant, susceptibility to, 33 tests
Melanoma, cutaneous malignant, susceptibility to, 52 tests
Melanoma, cutaneous malignant, susceptibility to, 82 tests
Melanoma, cutaneous malignant, susceptibility to, 91 test
Melanoma-pancreatic cancer syndrome2 tests
Melnick-Needles syndrome1 test
Melorheostosis1 test
MEND syndrome1 test
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency2 tests
Menkes kinky-hair syndrome2 tests
Meretoja syndrome2 tests
Merosin deficient congenital muscular dystrophy5 tests
Metachromatic leukodystrophy4 tests
Metaphyseal anadysplasia 22 tests
Metaphyseal chondrodysplasia, Jansen type4 tests
Metaphyseal chondrodysplasia, McKusick type2 tests
Metaphyseal chondrodysplasia, Schmid type3 tests
Metaphyseal chondrodysplasia, Spahr type2 tests
Metaphyseal dysplasia without hypotrichosis2 tests
Metatropic dysplasia1 test
Methylcobalamin deficiency type cblG1 test
Methylmalonic acidemia due to transcobalamin receptor defect1 test
Methylmalonic acidemia with homocystinuria, type cblJ2 tests
Methylmalonic aciduria and homocystinuria type cblD2 tests
Methylmalonic aciduria and homocystinuria type cblF3 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
Methylmalonic aciduria, cblA type2 tests
Methylmalonic aciduria, cblB type3 tests
MGAT2-congenital disorder of glycosylation1 test
MHC class II deficiency4 tests
Microcephalic osteodysplastic primordial dwarfism type II2 tests
Microcephaly 1, primary, autosomal recessive2 tests
Microcephaly 12, primary, autosomal recessive1 test
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations3 tests
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly 4, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive4 tests
Microcephaly 6, primary, autosomal recessive1 test
Microcephaly 8, primary, autosomal recessive1 test
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
Microcephaly, normal intelligence and immunodeficiency6 tests
Microcephaly, seizures, and developmental delay3 tests
Microcephaly-thin corpus callosum-intellectual disability syndrome2 tests
Microcornea-myopic chorioretinal atrophy1 test
Microcytic anemia1 test
Microcytic anemia with liver iron overload1 test
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2 tests
Microphthalmia with brain and digit anomalies1 test
Microphthalmia, isolated, with coloboma 32 tests
Microphthalmia, isolated, with coloboma 61 test
Microphthalmia, isolated, with coloboma 71 test
Microphthalmia, syndromic 111 test
Microspherophakia2 tests
Microvascular complications of diabetes, susceptibility to, 11 test
Migraine, familial hemiplegic, 15 tests
Migraine, familial hemiplegic, 24 tests
Migraine, familial hemiplegic, 33 tests
Miller syndrome1 test
Mirror movements 11 test
Mirror movements 21 test
Mismatch repair cancer syndrome 13 tests
Mitochondrial complex I deficiency1 test
Mitochondrial complex II deficiency, nuclear type 11 test
Mitochondrial complex IV deficiency, nuclear type 12 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
Mitochondrial DNA deletion syndrome with progressive myopathy1 test
Mitochondrial DNA depletion syndrome 12 tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant2 tests
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 8a1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial trifunctional protein deficiency2 tests
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 31 test
MOGS-congenital disorder of glycosylation1 test
Monocytopenia with susceptibility to infections2 tests
Mosaic variegated aneuploidy syndrome 11 test
Mosaic variegated aneuploidy syndrome 21 test
Mowat-Wilson syndrome3 tests
Moyamoya disease 22 tests
Moyamoya disease 54 tests
MPDU1-congenital disorder of glycosylation1 test
MPI-congenital disorder of glycosylation2 tests
Mucolipidosis type II3 tests
Mucolipidosis type IV3 tests
Mucopolysaccharidosis type 64 tests
Mucopolysaccharidosis type 74 tests
Mucopolysaccharidosis, MPS-I-H/S4 tests
Mucopolysaccharidosis, MPS-I-S3 tests
Mucopolysaccharidosis, MPS-II4 tests
Mucopolysaccharidosis, MPS-III-A4 tests
Mucopolysaccharidosis, MPS-III-B4 tests
Mucopolysaccharidosis, MPS-III-C4 tests
Mucopolysaccharidosis, MPS-III-D4 tests
Mucopolysaccharidosis, MPS-IV-A4 tests
Mucopolysaccharidosis, MPS-IV-B4 tests
Muenke syndrome2 tests
Muir-Torré syndrome1 test
Mulibrey nanism syndrome1 test
Mullerian aplasia and hyperandrogenism1 test
Multicentric osteolysis nodulosis arthropathy spectrum1 test
Multiple acyl-CoA dehydrogenase deficiency5 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 23 tests
Multiple congenital exostosis2 tests
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 15 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA4 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB3 tests
Multiple epiphyseal dysplasia type 12 tests
Multiple epiphyseal dysplasia type 42 tests
Multiple epiphyseal dysplasia type 52 tests
Multiple epiphyseal dysplasia, Beighton type2 tests
Multiple gastrointestinal atresias1 test
Multiple sulfatase deficiency4 tests
Multiple synostoses syndrome 21 test
Multiple synostoses syndrome 32 tests
Multiple system atrophy1 test
Multisystemic smooth muscle dysfunction syndrome2 tests
Muscle AMP deaminase deficiency3 tests
Muscle eye brain disease5 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
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 A16 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A132 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A24 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A55 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A64 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A94 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B13 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B23 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B34 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B44 tests
Muscular dystrophy-dystroglycanopathy type B54 tests
Muscular dystrophy-dystroglycanopathy type B64 tests
Myasthenic syndrome, congenital, 1B, fast-channel4 tests
Myasthenic syndrome, slow-channel congenital5 tests
Myelodysplastic syndrome6 tests
Myhre syndrome1 test
Myoclonic dystonia 118 tests
Myofibrillar myopathy 22 tests
Myofibrillar myopathy 35 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 53 tests
Myofibrillar myopathy 62 tests
Myofibromatosis, infantile, 11 test
Myoglobinuria, acute recurrent, autosomal recessive2 tests
Myopathy, centronuclear, 23 tests
Myopathy, lactic acidosis, and sideroblastic anemia 11 test
Myopathy, lactic acidosis, and sideroblastic anemia 21 test
Myopathy, myosin storage, autosomal recessive3 tests
Myopathy, proximal, and ophthalmoplegia1 test
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopia, high, with cataract and vitreoretinal degeneration1 test
Myosin storage myopathy4 tests
Naegeli-Franceschetti-Jadassohn syndrome1 test
Nager syndrome1 test
Nail-patella syndrome2 tests
Namaqualand hip dysplasia2 tests
Nance-Horan syndrome1 test
Nanophthalmos 21 test
Nasopharyngeal carcinoma1 test
Nemaline myopathy 23 tests
Nemaline myopathy 53 tests
Nemaline myopathy 61 test
Nemaline myopathy 72 tests
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
Neoplasm of ovary1 test
Nephronophthisis 13 tests
Nephronophthisis 131 test
Nephronophthisis 32 tests
Nephronophthisis 42 tests
Nephronophthisis 72 tests
Nephronophthisis 92 tests
Nephropathic cystinosis5 tests
Nephrotic syndrome, type 23 tests
Nephrotic syndrome, type 33 tests
Nephrotic syndrome, type 45 tests
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Nestor-Guillermo progeria syndrome1 test
Netherton syndrome3 tests
Neural tube defect1 test
Neural tube defects, folate-sensitive1 test
Neuroblastoma1 test
Neuroblastoma, susceptibility to, 22 tests
Neuroblastoma, susceptibility to, 33 tests
Neurodegeneration with brain iron accumulation 2B3 tests
Neurodegeneration with brain iron accumulation 43 tests
Neurodegeneration with brain iron accumulation 52 tests
Neurodegeneration with brain iron accumulation 61 test
Neuroferritinopathy2 tests
Neurofibromatosis, type 18 tests
Neurofibromatosis, type 24 tests
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis 15 tests
Neuronal ceroid lipofuscinosis 104 tests
Neuronal ceroid lipofuscinosis 112 tests
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 25 tests
Neuronal ceroid lipofuscinosis 34 tests
Neuronal ceroid lipofuscinosis 53 tests
Neuronal ceroid lipofuscinosis 74 tests
Neuronal ceroid lipofuscinosis 85 tests
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant4 tests
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Neuronopathy, distal hereditary motor, autosomal recessive 43 tests
Neuronopathy, distal hereditary motor, autosomal recessive 52 tests
Neuronopathy, distal hereditary motor, type 2A3 tests
Neuronopathy, distal hereditary motor, type 2B3 tests
Neuronopathy, distal hereditary motor, type 5A6 tests
Neuronopathy, distal hereditary motor, type 5B2 tests
Neuronopathy, distal hereditary motor, type 7A1 test
Neuronopathy, distal hereditary motor, type 7B1 test
Neuropathy, hereditary motor and sensory, type 6B1 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neutral 1 amino acid transport defect1 test
Neutral lipid storage myopathy3 tests
Neutropenia, severe congenital, 1, autosomal dominant5 tests
Neutropenia, severe congenital, 2, autosomal dominant4 tests
Neutrophil immunodeficiency syndrome3 tests
Newfoundland cone-rod dystrophy1 test
Nicolaides-Baraitser syndrome1 test
Niemann-Pick disease, type A3 tests
Niemann-Pick disease, type B3 tests
Niemann-Pick disease, type C15 tests
Niemann-Pick disease, type C24 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities3 tests
Non-Hodgkin lymphoma1 test
Non-ketotic hyperglycinemia5 tests
Nonimmune chronic idiopathic neutropenia of adults1 test
Nonpapillary renal cell carcinoma2 tests
Noonan syndrome 15 tests
Noonan syndrome 31 test
Noonan syndrome 43 tests
Noonan syndrome 52 tests
Noonan syndrome 62 tests
Noonan syndrome 73 tests
Noonan syndrome 81 test
Noonan syndrome-like disorder with loose anagen hair 13 tests
Norman-Roberts syndrome4 tests
NPHP3-related Meckel-like syndrome1 test
Nystagmus 1, congenital, X-linked1 test
Obesity7 tests
OBESITY (BMIQ9), SUSCEPTIBILITY TO2 tests
Obesity due to congenital leptin deficiency2 tests
Obesity due to leptin receptor gene deficiency2 tests
Obesity due to prohormone convertase I deficiency1 test
Obsessive-compulsive disorder2 tests
Occipital pachygyria and polymicrogyria2 tests
Occult macular dystrophy1 test
Ocular albinism with congenital sensorineural hearing loss1 test
Ocular albinism, type I3 tests
Ocular cystinosis3 tests
Oculocerebrofacial syndrome, Kaufman type1 test
Oculocutaneous albinism type 1B3 tests
Oculocutaneous albinism type 33 tests
Oculocutaneous albinism type 43 tests
Oculocutaneous albinism type 72 tests
Oculofaciocardiodental syndrome3 tests
Oculopharyngeal muscular dystrophy1 test
Odonto-onycho-dermal dysplasia2 tests
Oguchi disease1 test
Oguchi disease-22 tests
Optic atrophy 32 tests
Optic atrophy 91 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2 tests
Ornithine aminotransferase deficiency1 test
Ornithine carbamoyltransferase deficiency4 tests
Orofacial cleft 111 test
Orofaciodigital syndrome I1 test
Orotic aciduria1 test
Osteochondritis dissecans1 test
Osteodysplastic primordial dwarfism, type 12 tests
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 72 tests
Osteogenesis imperfecta type 82 tests
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I5 tests
Osteogenesis imperfecta type III6 tests
Osteogenesis imperfecta with normal sclerae, dominant form6 tests
Osteogenesis imperfecta, perinatal lethal6 tests
Osteopathia striata with cranial sclerosis1 test
Osteopetrosis with renal tubular acidosis3 tests
Osteoporosis with pseudoglioma2 tests
Oto-palato-digital syndrome, type I2 tests
Oto-palato-digital syndrome, type II1 test
Otofaciocervical syndrome 12 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant4 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
Ovarian dysgenesis 11 test
Ovarian dysgenesis 22 tests
Ovarian dysgenesis 31 test
Pachyonychia congenita 12 tests
Pachyonychia congenita 22 tests
Pachyonychia congenita 32 tests
Pachyonychia congenita 42 tests
Paget disease of bone 2, early-onset2 tests
Paget disease of bone 33 tests
Pallister-Hall syndrome3 tests
Palmoplantar keratoderma, Bothnian type1 test
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Pancreatic agenesis 12 tests
Pancreatic agenesis 22 tests
Pancreatic cancer, susceptibility to, 22 tests
Pancreatic cancer, susceptibility to, 32 tests
Pancreatic cancer, susceptibility to, 42 tests
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1 test
Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
Pancreatic triacylglycerol lipase deficiency1 test
Panhypopituitarism, X-linked1 test
Papillary renal cell carcinoma type 12 tests
Papillon-Lefèvre syndrome1 test
Paragangliomas 14 tests
Paragangliomas 25 tests
Paragangliomas 35 tests
Paragangliomas 45 tests
Paragangliomas 53 tests
Paramyotonia congenita of Von Eulenburg3 tests
Parathyroid carcinoma1 test
Parietal foramina with cleidocranial dysplasia1 test
Parkes Weber syndrome1 test
Parkinson disease 171 test
Parkinson disease 5, autosomal dominant, susceptibility to1 test
Parkinsonian-pyramidal syndrome1 test
Paroxysmal extreme pain disorder1 test
Paroxysmal nocturnal hemoglobinuria 11 test
Paroxysmal nonkinesigenic dyskinesia 11 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Patterned macular dystrophy 12 tests
PCWH syndrome1 test
Peeling skin syndrome 11 test
Pelizaeus-Merzbacher disease3 tests
Pelviscapular dysplasia1 test
Pendred syndrome5 tests
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Perlman syndrome3 tests
Permanent neonatal diabetes mellitus6 tests
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome1 test
Peroxisome biogenesis disorder 10A (Zellweger)6 tests
Peroxisome biogenesis disorder 10B4 tests
Peroxisome biogenesis disorder 11A (Zellweger)5 tests
Peroxisome biogenesis disorder 11B3 tests
Peroxisome biogenesis disorder 12A (Zellweger)5 tests
Peroxisome biogenesis disorder 13A (Zellweger)6 tests
Peroxisome biogenesis disorder 14B4 tests
Peroxisome biogenesis disorder 1A (Zellweger)7 tests
Peroxisome biogenesis disorder 1B5 tests
Peroxisome biogenesis disorder 2A (Zellweger)6 tests
Peroxisome biogenesis disorder 2B4 tests
Peroxisome biogenesis disorder 3A (Zellweger)5 tests
Peroxisome biogenesis disorder 4A (Zellweger)6 tests
Peroxisome biogenesis disorder 4B4 tests
Peroxisome biogenesis disorder 5A (Zellweger)7 tests
Peroxisome biogenesis disorder 5B5 tests
Peroxisome biogenesis disorder 6A (Zellweger)6 tests
Peroxisome biogenesis disorder 6B4 tests
Peroxisome biogenesis disorder 7A (Zellweger)5 tests
Peroxisome biogenesis disorder 7B4 tests
Peroxisome biogenesis disorder 8A (Zellweger)5 tests
Peroxisome biogenesis disorder 8B3 tests
Peroxisome biogenesis disorder 9B6 tests
Peroxisome biogenesis disorder type 3B4 tests
Perrault syndrome 13 tests
Perrault syndrome 22 tests
Perrault syndrome 32 tests
Perrault syndrome 42 tests
Perrault syndrome 51 test
Persistent Mullerian duct syndrome2 tests
Peters plus syndrome1 test
Pettigrew syndrome3 tests
Peutz-Jeghers syndrome5 tests
Pfeiffer syndrome1 test
PGM1-congenital disorder of glycosylation1 test
Phelan-McDermid syndrome2 tests
Phenylketonuria4 tests
Pheochromocytoma4 tests
Phosphate transport defect3 tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
Phytanic acid storage disease7 tests
Pick disease1 test
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
Piebaldism2 tests
Pierson syndrome2 tests
Pigmentary pallidal degeneration5 tests
Pigmentary retinal dystrophy7 tests
Pigmented nodular adrenocortical disease, primary, 11 test
Pigmented nodular adrenocortical disease, primary, 22 tests
Pigmented nodular adrenocortical disease, primary, 32 tests
Pili torti-deafness syndrome1 test
Pilomatrixoma2 tests
Pitt-Hopkins syndrome4 tests
Pitt-Hopkins-like syndrome 23 tests
Pituitary dependent hypercortisolism2 tests
Pituitary hormone deficiency, combined, 13 tests
Pituitary hormone deficiency, combined, 23 tests
Pituitary hormone deficiency, combined, 61 test
Plasminogen deficiency, type I1 test
Platelet-type bleeding disorder 111 test
Platelet-type bleeding disorder 162 tests
Platelet-type bleeding disorder 81 test
Platyspondylic dysplasia, Torrance type1 test
PLIN1-related familial partial lipodystrophy1 test
PMM2-congenital disorder of glycosylation3 tests
Poikiloderma with neutropenia2 tests
Polycystic kidney disease 24 tests
Polycystic kidney disease, adult type4 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 14 tests
Polycystic liver disease 12 tests
Polydactyly, postaxial, type A11 test
Polyglandular autoimmune syndrome, type 11 test
Polymicrogyria with optic nerve hypoplasia2 tests
Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
Polyposis syndrome, hereditary mixed, 24 tests
Pontocerebellar hypoplasia type 1A3 tests
Pontocerebellar hypoplasia type 1B1 test
Pontocerebellar hypoplasia type 2A2 tests
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 61 test
Porencephaly 23 tests
Porphobilinogen synthase deficiency3 tests
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome2 tests
Posterior column ataxia-retinitis pigmentosa syndrome2 tests
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 23 tests
Posterior polymorphous corneal dystrophy 32 tests
Postmenopausal osteoporosis2 tests
Potassium-aggravated myotonia2 tests
PPARG-related familial partial lipodystrophy2 tests
Prader-Willi syndrome1 test
Predisposition to invasive fungal disease due to CARD9 deficiency1 test
Premature ovarian failure 2A1 test
Premature ovarian failure 2B1 test
Premature ovarian failure 31 test
Premature ovarian failure 51 test
Premature ovarian failure 61 test
Premature ovarian failure 71 test
Pretibial dystrophic epidermolysis bullosa1 test
Primary ciliary dyskinesia 111 test
Primary ciliary dyskinesia 122 tests
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 141 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 161 test
Primary ciliary dyskinesia 171 test
Primary ciliary dyskinesia 181 test
Primary ciliary dyskinesia 191 test
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 201 test
Primary ciliary dyskinesia 33 tests
Primary ciliary dyskinesia 51 test
Primary ciliary dyskinesia 61 test
Primary ciliary dyskinesia 72 tests
Primary ciliary dyskinesia 91 test
Primary erythromelalgia2 tests
Primary failure of tooth eruption1 test
Primary familial polycythemia due to EPO receptor mutation2 tests
Primary hyperoxaluria type 32 tests
Primary hyperoxaluria, type I4 tests
Primary hyperoxaluria, type II2 tests
Primary hypomagnesemia3 tests
Primary immunodeficiency syndrome due to p14 deficiency3 tests
Primary myelofibrosis2 tests
Primary open angle glaucoma2 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 33 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 43 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive familial heart block type IB3 tests
Progressive familial heart block, type 1A1 test
Progressive familial intrahepatic cholestasis type 12 tests
Progressive familial intrahepatic cholestasis type 21 test
Progressive familial intrahepatic cholestasis type 33 tests
Progressive myoclonic epilepsy type 33 tests
Progressive myositis ossificans2 tests
Progressive osseous heteroplasia1 test
Progressive pseudorheumatoid dysplasia3 tests
Progressive scapulohumeroperoneal distal myopathy1 test
Progressive sclerosing poliodystrophy3 tests
Progressive supranuclear ophthalmoplegia1 test
Prolactin-producing pituitary gland adenoma2 tests
Prolidase deficiency1 test
Proline dehydrogenase deficiency2 tests
Properdin deficiency, X-linked2 tests
Propionic acidemia3 tests
Prostate cancer, hereditary, 11 test
Prostate cancer, hereditary, 21 test
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
Proteus syndrome1 test
Protoporphyria, erythropoietic, 13 tests
Prune belly syndrome2 tests
Pseudo von Willebrand disease3 tests
Pseudo-Hurler polydystrophy2 tests
Pseudo-TORCH syndrome 12 tests
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome4 tests
Pseudoexfoliation glaucoma1 test
Pseudohypoaldosteronism type 2B3 tests
Pseudohypoaldosteronism type 2C2 tests
Pseudohypoaldosteronism type 2D4 tests
Pseudohypoaldosteronism type 2E1 test
Pseudohypoparathyroidism2 tests
Pseudohypoparathyroidism type 1B2 tests
Pseudohypoparathyroidism type 1C2 tests
Pseudopseudohypoparathyroidism1 test
Pseudoxanthoma elasticum, forme fruste2 tests
Psoriatic arthritis, susceptibility to1 test
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 24 tests
Pulmonary hypertension, primary, 13 tests
Pulmonary hypertension, primary, 22 tests
Pulmonary hypertension, primary, 32 tests
Pulmonary venoocclusive disease 11 test
Purine-nucleoside phosphorylase deficiency2 tests
PYCR1-related de Barsy syndrome1 test
Pyknodysostosis2 tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome3 tests
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy3 tests
Pyruvate carboxylase deficiency2 tests
Pyruvate dehydrogenase E1-alpha deficiency4 tests
Pyruvate dehydrogenase E1-beta deficiency2 tests
Pyruvate dehydrogenase E2 deficiency2 tests
Pyruvate dehydrogenase E3 deficiency4 tests
Pyruvate dehydrogenase E3-binding protein deficiency2 tests
Pyruvate dehydrogenase phosphatase deficiency2 tests
Pyruvate kinase deficiency of red cells2 tests
RAB23-related Carpenter syndrome2 tests
Rabson-Mendenhall syndrome1 test
Radial aplasia-thrombocytopenia syndrome2 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 12 tests
Rafiq syndrome2 tests
Rapp-Hodgkin ectodermal dysplasia syndrome1 test
Recessive dystrophic epidermolysis bullosa1 test
Reis-Bucklers' corneal dystrophy2 tests
Renal carnitine transport defect4 tests
Renal coloboma syndrome1 test
Renal cysts and diabetes syndrome3 tests
Renal hypodysplasia/aplasia 12 tests
Renal hypomagnesemia 23 tests
Renal hypomagnesemia 41 test
Renal hypomagnesemia 5 with ocular involvement3 tests
Renal hypomagnesemia 61 test
Renal tubular acidosis with progressive nerve deafness4 tests
Renal tubular acidosis, distal, 4, with hemolytic anemia4 tests
Renal tubular dysgenesis1 test
Renpenning syndrome4 tests
Reticular dysgenesis3 tests
Reticulate acropigmentation of Kitamura1 test
Retinal arterial tortuosity1 test
Retinal cone dystrophy 3A2 tests
Retinal cone dystrophy 41 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Retinitis pigmentosa 14 tests
Retinitis pigmentosa 103 tests
Retinitis pigmentosa 113 tests
Retinitis pigmentosa 123 tests
Retinitis pigmentosa 132 tests
Retinitis pigmentosa 142 tests
Retinitis pigmentosa 172 tests
Retinitis pigmentosa 183 tests
Retinitis pigmentosa 193 tests
Retinitis pigmentosa 24 tests
Retinitis pigmentosa 204 tests
Retinitis pigmentosa 253 tests
Retinitis pigmentosa 263 tests
Retinitis pigmentosa 273 tests
Retinitis pigmentosa 282 tests
Retinitis pigmentosa 34 tests
Retinitis pigmentosa 303 tests
Retinitis pigmentosa 312 tests
Retinitis pigmentosa 332 tests
Retinitis pigmentosa 352 tests
Retinitis pigmentosa 362 tests
Retinitis pigmentosa 374 tests
Retinitis pigmentosa 382 tests
Retinitis pigmentosa 392 tests
Retinitis pigmentosa 44 tests
Retinitis pigmentosa 403 tests
Retinitis pigmentosa 412 tests
Retinitis pigmentosa 422 tests
Retinitis pigmentosa 433 tests
Retinitis pigmentosa 443 tests
Retinitis pigmentosa 452 tests
Retinitis pigmentosa 462 tests
Retinitis pigmentosa 473 tests
Retinitis pigmentosa 482 tests
Retinitis pigmentosa 492 tests
Retinitis pigmentosa 503 tests
Retinitis pigmentosa 512 tests
Retinitis pigmentosa 542 tests
Retinitis pigmentosa 562 tests
Retinitis pigmentosa 572 tests
Retinitis pigmentosa 582 tests
Retinitis pigmentosa 593 tests
Retinitis pigmentosa 602 tests
Retinitis pigmentosa 622 tests
Retinitis pigmentosa 662 tests
Retinitis pigmentosa 74 tests
Retinitis pigmentosa 761 test
Retinitis pigmentosa 92 tests
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma4 tests
Rett syndrome3 tests
Rett syndrome, congenital variant5 tests
RFT1-congenital disorder of glycosylation1 test
Rhabdoid tumor predisposition syndrome 13 tests
Rhabdoid tumor predisposition syndrome 21 test
Rhabdomyosarcoma, embryonal, 21 test
Rheumatoid arthritis1 test
Rhizomelic chondrodysplasia punctata type 16 tests
Rhizomelic chondrodysplasia punctata type 24 tests
Rhizomelic chondrodysplasia punctata type 34 tests
Rhizomelic chondrodysplasia punctata type 51 test
Richieri Costa-Pereira syndrome1 test
Rienhoff syndrome5 tests
RIN2 syndrome1 test
Rippling muscle disease 24 tests
Ritscher-Schinzel syndrome 21 test
Roberts-SC phocomelia syndrome2 tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked3 tests
Rothmund-Thomson syndrome5 tests
Rotor syndrome2 tests
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations4 tests
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3 tests
Sacral defect with anterior meningocele1 test
Saethre-Chotzen syndrome2 tests
Salla disease2 tests
Sandhoff disease4 tests
Sarcoidosis, susceptibility to, 21 test
Sarcotubular myopathy3 tests
Scapuloperoneal spinal muscular atrophy1 test
SchC6pf-Schulz-Passarge syndrome1 test
Schimke immuno-osseous dysplasia1 test
Schinzel-Giedion syndrome1 test
Schizencephaly1 test
Schizophrenia1 test
Schizophrenia 151 test
Schneckenbecken dysplasia1 test
Schnyder crystalline corneal dystrophy1 test
Schwannomatosis 13 tests
Schwannomatosis 23 tests
Schwartz-Jampel syndrome3 tests
Sclerosteosis 11 test
Sclerosteosis 21 test
SCOTT SYNDROME1 test
Seckel syndrome 13 tests
Seckel syndrome 22 tests
Seckel syndrome 42 tests
Seckel syndrome 52 tests
Seckel syndrome 62 tests
Seizures, benign familial infantile, 22 tests
Seizures, benign familial infantile, 33 tests
Seizures, benign familial infantile, 51 test
Seizures, benign familial neonatal, 13 tests
Seizures, benign familial neonatal, 23 tests
Selective pituitary resistance to thyroid hormone2 tests
Senior-Loken syndrome 11 test
Senior-Loken syndrome 41 test
Senior-Loken syndrome 53 tests
Senior-Loken syndrome 62 tests
Senior-Loken syndrome 72 tests
Senior-Loken syndrome 81 test
Senior-Loken syndrome 91 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
Septo-optic dysplasia sequence3 tests
SERKAL syndrome1 test
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome2 tests
Severe combined immunodeficiency due to DCLRE1C deficiency2 tests
Severe combined immunodeficiency due to IKK2 deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency2 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
Severe early-childhood-onset retinal dystrophy4 tests
Severe intellectual disability-progressive spastic diplegia syndrome2 tests
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome2 tests
Severe myoclonic epilepsy in infancy7 tests
Severe neurodegenerative syndrome with lipodystrophy1 test
Severe X-linked myotubular myopathy5 tests
Short QT syndrome type 14 tests
Short QT syndrome type 24 tests
Short QT syndrome type 35 tests
Short stature-pituitary and cerebellar defects-small sella turcica syndrome3 tests
SHORT syndrome1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
Shprintzen-Goldberg syndrome1 test
Shwachman-Diamond syndrome 16 tests
Sialic acid storage disease, severe infantile type2 tests
Sialidosis type 23 tests
Sialuria1 test
Sick sinus syndrome 11 test
Sick sinus syndrome 2, autosomal dominant4 tests
Sick sinus syndrome 3, susceptibility to1 test
Sideroblastic anemia 21 test
Sideroblastic anemia 31 test
Simpson-Golabi-Behmel syndrome type 14 tests
Sinoatrial node dysfunction and deafness2 tests
Sitosterolemia3 tests
Sjögren-Larsson syndrome1 test
Skin/hair/eye pigmentation, variation in, 42 tests
Skin/hair/eye pigmentation, variation in, 81 test
SLC35A1-congenital disorder of glycosylation1 test
Small cell lung carcinoma3 tests
Smith-Lemli-Opitz syndrome2 tests
Smith-Magenis syndrome3 tests
Smoking as a quantitative trait locus 31 test
Solitary median maxillary central incisor syndrome1 test
Somatotroph adenoma3 tests
Sorsby fundus dystrophy2 tests
Sotos syndrome6 tests
Spastic ataxia 51 test
Spastic paraplegia 52, autosomal recessive2 tests
Spermatogenic failure 101 test
Spermatogenic failure 111 test
Spermatogenic failure 41 test
Spermatogenic failure 71 test
Spermatogenic failure 81 test
Spermatogenic failure 92 tests
Spermatogenic failure, Y-linked, 21 test
Sphingolipid activator protein 1 deficiency1 test
Spinal muscular atrophy, type II3 tests
Spinal muscular atrophy, type IV3 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 113 tests
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 132 tests
Spinocerebellar ataxia type 143 tests
Spinocerebellar ataxia type 15/162 tests
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 181 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 272 tests
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 291 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 362 tests
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 52 tests
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 81 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 24 tests
Split hand-foot malformation 41 test
Split hand-foot malformation 61 test
Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
Spondylocarpotarsal synostosis syndrome2 tests
Spondylocostal dysostosis 1, autosomal recessive2 tests
Spondylocostal dysostosis 2, autosomal recessive2 tests
Spondylocostal dysostosis 3, autosomal recessive2 tests
Spondylocostal dysostosis 4, autosomal recessive2 tests
Spondylocostal dysostosis 52 tests
Spondyloenchondrodysplasia with immune dysregulation1 test
Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
Spondyloepimetaphyseal dysplasia, Missouri type2 tests
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
Spondyloepiphyseal dysplasia tarda1 test
Spondyloepiphyseal dysplasia with congenital joint dislocations2 tests
Spondyloepiphyseal dysplasia, Stanescu type1 test
Spondylometaphyseal dysplasia, Kozlowski type3 tests
Spondyloperipheral dysplasia1 test
Spongy degeneration of central nervous system4 tests
SRD5A3-congenital disorder of glycosylation1 test
Stargardt disease 33 tests
Stargardt disease 43 tests
STAT3-related early-onset multisystem autoimmune disease1 test
Steinert myotonic dystrophy syndrome2 tests
Sterile multifocal osteomyelitis with periostitis and pustulosis2 tests
Sterol carrier protein 2 deficiency2 tests
Stickler syndrome type 14 tests
Stickler syndrome type 24 tests
Stickler syndrome, type 43 tests
Stickler syndrome, type 53 tests
Stickler syndrome, type I, nonsyndromic ocular2 tests
Stiff skin syndrome1 test
Sturge-Weber syndrome1 test
Stuve-Wiedemann syndrome2 tests
Succinate-semialdehyde dehydrogenase deficiency2 tests
Succinyl-CoA acetoacetate transferase deficiency1 test
Sucrase-isomaltase deficiency1 test
SUDDEN INFANT DEATH SYNDROME1 test
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C2 tests
Surfactant metabolism dysfunction, pulmonary, 13 tests
Surfactant metabolism dysfunction, pulmonary, 23 tests
Surfactant metabolism dysfunction, pulmonary, 43 tests
Surfactant metabolism dysfunction, pulmonary, 52 tests
Susceptibility to bulimia nervosa1 test
Susceptibility to HIV infection1 test
Symmetrical dyschromatosis of extremities1 test
Symphalangism-brachydactyly syndrome1 test
Syndactyly type 41 test
Syndromic microphthalmia type 53 tests
Syndromic X-linked intellectual disability 142 tests
Syndromic X-linked intellectual disability Claes-Jensen type4 tests
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Lubs type3 tests
Syndromic X-linked intellectual disability Najm type3 tests
Syndromic X-linked intellectual disability Snyder type1 test
Synpolydactyly type 11 test
Synpolydactyly type 21 test
Systemic lupus erythematosus1 test
Systemic lupus erythematosus, susceptibility to, 21 test
Systemic-onset juvenile idiopathic arthritis1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency2 tests
T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
Tangier disease1 test
Tatton-Brown-Rahman overgrowth syndrome1 test
Tay-Sachs disease5 tests
Tay-Sachs disease, variant AB3 tests
TCF12-related craniosynostosis1 test
Telangiectasia, hereditary hemorrhagic, type 15 tests
Telangiectasia, hereditary hemorrhagic, type 24 tests
Telangiectasia, hereditary hemorrhagic, type 51 test
Temtamy preaxial brachydactyly syndrome1 test
Tetraamelia syndrome 11 test
Thanatophoric dysplasia type 12 tests
Thanatophoric dysplasia, type 22 tests
Thiel-Behnke corneal dystrophy1 test
Thiopurine S-methyltransferase deficiency1 test
Thrombocythemia 13 tests
Thrombocythemia 32 tests
Thrombocytopenia 12 tests
Thrombocytopenia 21 test
Thrombocytopenia 41 test
Thrombocytopenia 61 test
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia3 tests
Thrombomodulin-related bleeding disorder2 tests
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to protein C deficiency, autosomal dominant1 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
Thyroglobulin synthesis defect3 tests
Thyroid cancer, nonmedullary, 21 test
Thyroid dyshormonogenesis 62 tests
Thyroid hormone metabolism, abnormal 13 tests
Thyroid hormone resistance, generalized, autosomal dominant4 tests
Thyroid hormone resistance, generalized, autosomal recessive3 tests
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Thyrotoxic periodic paralysis, susceptibility to, 21 test
Tietz syndrome2 tests
Timothy syndrome4 tests
TNF receptor-associated periodic fever syndrome (TRAPS)4 tests
Tobacco addiction, susceptibility to1 test
Tooth agenesis, selective, 11 test
Tooth agenesis, selective, 41 test
Torsion dystonia 41 test
Torsion dystonia 62 tests
Tourette syndrome1 test
Townes-Brocks syndrome 12 tests
Transcobalamin II deficiency1 test
Transposition of the great arteries, dextro-looped1 test
Treacher Collins syndrome 14 tests
Treacher Collins syndrome 23 tests
Treacher Collins syndrome 33 tests
Tremor, hereditary essential, 11 test
Tremor, hereditary essential, 41 test
Tremor, hereditary essential, 51 test
Trichohepatoenteric syndrome 12 tests
Trichohepatoenteric syndrome 22 tests
Trichorhinophalangeal dysplasia type I2 tests
Trichorhinophalangeal syndrome, type III2 tests
Trichothiodystrophy 1, photosensitive1 test
Trichothiodystrophy 2, photosensitive3 tests
Trichothiodystrophy 3, photosensitive2 tests
Trichothiodystrophy 4, nonphotosensitive2 tests
Trichothiodystrophy 5, nonphotosensitive1 test
Triglyceride storage disease with ichthyosis2 tests
Trigonocephaly 11 test
Trimethylaminuria1 test
Triosephosphate isomerase deficiency1 test
Troyer syndrome4 tests
Tuberous sclerosis 15 tests
Tuberous sclerosis 25 tests
Tubulointerstitial kidney disease, autosomal dominant, 21 test
Tumoral calcinosis, hyperphosphatemic, familial, 12 tests
TWIST1-related craniosynostosis1 test
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 202 tests
Type 2 diabetes mellitus5 tests
Type A2 brachydactyly2 tests
Tyrosinase-negative oculocutaneous albinism3 tests
Tyrosinase-positive oculocutaneous albinism3 tests
Tyrosinemia type I3 tests
Tyrosinemia type II2 tests
Tyrosinemia type III2 tests
UDPglucose-4-epimerase deficiency1 test
Ullrich congenital muscular dystrophy 1A6 tests
Ullrich congenital muscular dystrophy 21 test
Ulnar-mammary syndrome1 test
Unverricht-Lundborg syndrome1 test
Upshaw-Schulman syndrome4 tests
Urofacial syndrome 21 test
Urofacial syndrome type 11 test
Usher syndrome type 12 tests
Usher syndrome type 1C1 test
Usher syndrome type 1D2 tests
Usher syndrome type 1F1 test
Usher syndrome type 1G1 test
Usher syndrome type 2A4 tests
Usher syndrome type 2C1 test
Usher syndrome type 32 tests
Usher syndrome type 3B2 tests
Uterine leiomyoma1 test
Van den Ende-Gupta syndrome2 tests
Van der Woude syndrome 11 test
Vanishing white matter disease7 tests
Variegate porphyria3 tests
Velocardiofacial syndrome1 test
Ventricular fibrillation, paroxysmal familial, 21 test
Ventricular fibrillation, paroxysmal familial, type 12 tests
Ventricular septal defect 31 test
Very long chain acyl-CoA dehydrogenase deficiency4 tests
Vici syndrome1 test
Vitamin b12 plasma level quantitative trait locus 11 test
Vitamin D hydroxylation-deficient rickets, type 1B1 test
Vitamin D-dependent rickets type II with alopecia2 tests
Vitamin D-dependent rickets, type 13 tests
Vitelliform macular dystrophy 22 tests
Von Hippel-Lindau syndrome3 tests
von Willebrand disease type 13 tests
von Willebrand disease type 23 tests
von Willebrand disease type 33 tests
Waardenburg syndrome type 13 tests
Waardenburg syndrome type 2A3 tests
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A2 tests
Waardenburg syndrome type 4B2 tests
Waardenburg syndrome type 4C2 tests
Wagner syndrome3 tests
Warburg micro syndrome 13 tests
Warburg micro syndrome 21 test
Warburg micro syndrome 31 test
Warfarin response1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis3 tests
Weaver syndrome3 tests
Weill-Marchesani syndrome 13 tests
Werdnig-Hoffmann disease4 tests
Werner syndrome4 tests
Wieacker-Wolff syndrome1 test
Wiedemann-Steiner syndrome1 test
Wilms tumor 13 tests
Wilson disease3 tests
Wiskott-Aldrich syndrome2 tests
Wiskott-Aldrich syndrome 22 tests
Wolcott-Rallison dysplasia2 tests
Wolff-Parkinson-White pattern3 tests
Wolfram syndrome 13 tests
Wolfram syndrome 22 tests
Woodhouse-Sakati syndrome3 tests
Wrinkly skin syndrome1 test
X-linked agammaglobulinemia3 tests
X-linked agammaglobulinemia with growth hormone deficiency2 tests
X-linked Alport syndrome4 tests
X-linked chondrodysplasia punctata 13 tests
X-linked complicated corpus callosum dysgenesis3 tests
X-linked cone-rod dystrophy 13 tests
X-linked cone-rod dystrophy 32 tests
X-linked distal spinal muscular atrophy type 33 tests
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
X-linked dystonia-parkinsonism3 tests
X-linked Emery-Dreifuss muscular dystrophy5 tests
X-linked hydrocephalus syndrome6 tests
X-linked ichthyosis with steryl-sulfatase deficiency3 tests
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia2 tests
X-linked intellectual disability with marfanoid habitus3 tests
X-linked intellectual disability, Stocco dos Santos type3 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome6 tests
X-linked intellectual disability-psychosis-macroorchidism syndrome2 tests
X-linked lissencephaly with abnormal genitalia2 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency6 tests
X-linked lymphoproliferative disease due to XIAP deficiency4 tests
X-linked mixed hearing loss with perilymphatic gusher2 tests
X-linked myopathy with postural muscle atrophy3 tests
X-linked Opitz G/BBB syndrome3 tests
X-linked progressive cerebellar ataxia1 test
X-linked scapuloperoneal muscular dystrophy1 test
X-linked severe combined immunodeficiency2 tests
X-linked severe congenital neutropenia4 tests
X-linked sideroblastic anemia 12 tests
X-linked sideroblastic anemia with ataxia1 test
Xanthinuria type II1 test
Xeroderma pigmentosum group A3 tests
Xeroderma pigmentosum group B2 tests
Xeroderma pigmentosum variant type1 test
Xeroderma pigmentosum, group C3 tests
Xeroderma pigmentosum, group D3 tests
Xeroderma pigmentosum, group E2 tests
Xeroderma pigmentosum, group F2 tests
Xeroderma pigmentosum, group G2 tests
Zinc deficiency, transient neonatal1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Balanced Chromosome Rearrangement Studies
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Custom microarray analysis
Carrier testing
Data Storage and Backup
Genetic counseling
Identity Testing
Marker Chromosome Identification
Mutation Confirmation
Result interpretation
Uniparental Disomy (UPD) Testing
Whole Exome Sequencing
Whole Genome Sequencing

List of certifications/licenses

Certifications

ISO 14001:2004, Number: ES-2001/0146, Expiration date: 2018-09-14
ISO 9001:2008, Number: ES-1087/1998, Expiration date: 2018-09-14
ISO15189, Number: 1065/LE2112, Expiration date: 2018-12-31

Participation in external programs

Standardization programs

Other

Data exchange Programs

Other

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.