Genologica Medica

Personnel

Director: Jose Porta, PhD, Lab Director
Phone: 0034-951706532
Email: jmporta@genologica.com
Contact note: Paseo de la Farol 16. 29016. Malaga. Spain
Javier Porta, PhD, Scientific Director
Phone: 0034951706532
Email: jporta@genologica.com
Contact note: Paseo de la Farol 16. 29016. Malaga. Spain

Conditions and tests

3501 conditions/phenotypes with 258 tests
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2-hydroxyglutaric aciduria4 tests
3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
3-hydroxy-3-methylglutaryl-CoA synthase deficiency3 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency2 tests
3-methylglutaconic aciduria type 11 test
3-Methylglutaconic aciduria type 21 test
3-Methylglutaconic aciduria type 38 tests
3-methylglutaconic aciduria type 52 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome8 tests
3-methylglutaconic aciduria, type VIIB2 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
3M syndrome 12 tests
3M syndrome 22 tests
3M syndrome 31 test
3MC syndrome 13 tests
3MC syndrome 21 test
46,XX sex reversal 12 tests
46,XX sex reversal 43 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 33 tests
46,XY sex reversal 61 test
46,XY sex reversal 71 test
46,XY sex reversal 92 tests
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency3 tests
Aarskog syndrome1 test
ABCD syndrome1 test
Abdominal obesity-metabolic syndrome 31 test
Abetalipoproteinaemia4 tests
Ablepharon macrostomia syndrome1 test
Abortive cerebellar ataxia10 tests
ABri amyloidosis2 tests
Abruzzo-Erickson syndrome1 test
Absence seizure2 tests
Achondrogenesis type II12 tests
Achondrogenesis, type IA3 tests
Achondrogenesis, type IB2 tests
Achondroplasia8 tests
Achromatopsia 24 tests
Achromatopsia 35 tests
Achromatopsia 43 tests
Achromatopsia 72 tests
Acne inversa, familial, 33 tests
Acquired hemoglobin H disease3 tests
Acral peeling skin syndrome2 tests
Acrocallosal syndrome8 tests
Acrocapitofemoral dysplasia4 tests
Acrocephalosyndactyly type I3 tests
Acrodysostosis 1 with or without hormone resistance5 tests
Acrodysostosis 2 with or without hormone resistance1 test
Acroerythrokeratoderma1 test
Acroleukopathy, symmetric3 tests
Acromesomelic dysplasia 1, Maroteaux type2 tests
Acromesomelic dysplasia 2B6 tests
Acromesomelic dysplasia 2C, Hunter-Thompson type6 tests
Acromesomelic dysplasia 34 tests
Acromicric dysplasia7 tests
Acroosteolysis-keloid-like lesions-premature aging syndrome2 tests
ACTH-independent macronodular adrenal hyperplasia 15 tests
ACTH-independent macronodular adrenal hyperplasia 21 test
Actin accumulation myopathy2 tests
Action myoclonus-renal failure syndrome3 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
Acute intermittent porphyria1 test
Acute lymphoid leukemia6 tests
Acute myeloid leukemia22 tests
Acyl-CoA dehydrogenase 9 deficiency3 tests
Acyl-CoA oxidase deficiency1 test
Adams-Oliver syndrome 12 tests
Adams-Oliver syndrome 22 tests
Adams-Oliver syndrome 32 tests
Adams-Oliver syndrome 42 tests
Adams-Oliver syndrome 54 tests
Adams-Oliver syndrome 62 tests
ADan amyloidosis2 tests
Adenine phosphoribosyltransferase deficiency1 test
Adenosine kinase deficiency1 test
Adenylosuccinate lyase deficiency4 tests
Adiponectin deficiency1 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
Adrenocortical carcinoma, hereditary14 tests
Adrenoleukodystrophy5 tests
Adult hypophosphatasia8 tests
Adult polyglucosan body disease8 tests
ADULT syndrome4 tests
Adult-onset autosomal dominant demyelinating leukodystrophy4 tests
Adult-onset proximal spinal muscular atrophy, autosomal dominant3 tests
Age related macular degeneration 16 tests
Age related macular degeneration 111 test
Age related macular degeneration 132 tests
Age related macular degeneration 142 tests
Age related macular degeneration 151 test
Age related macular degeneration 26 tests
Age related macular degeneration 43 tests
Age related macular degeneration 53 tests
Age related macular degeneration 63 tests
Age related macular degeneration 73 tests
Age related macular degeneration 92 tests
Aicardi-Goutieres syndrome 15 tests
Aicardi-Goutieres syndrome 24 tests
Aicardi-Goutieres syndrome 33 tests
Aicardi-Goutieres syndrome 44 tests
Aicardi-Goutieres syndrome 54 tests
Aicardi-Goutieres syndrome 64 tests
Aicardi-Goutieres syndrome 71 test
Alacrima, achalasia, and intellectual disability syndrome1 test
Alagille syndrome due to a JAG1 point mutation4 tests
Alagille syndrome due to a NOTCH2 point mutation4 tests
ALDH18A1-related de Barsy syndrome6 tests
Alexander disease5 tests
ALG1-congenital disorder of glycosylation1 test
ALG11-congenital disorder of glycosylation1 test
ALG12-congenital disorder of glycosylation1 test
ALG2-congenital disorder of glycosylation1 test
ALG3-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C1 test
ALG8 congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation1 test
Allan-Herndon-Dudley syndrome3 tests
Alopecia universalis congenita1 test
Alpha thalassemia-X-linked intellectual disability syndrome3 tests
Alpha-1-antitrypsin deficiency4 tests
Alpha-2-macroglobulin deficiency2 tests
Alpha-methylacyl-CoA racemase deficiency3 tests
Alpha-N-acetylgalactosaminidase deficiency type 11 test
Alpha-N-acetylgalactosaminidase deficiency type 21 test
Alstrom syndrome6 tests
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 26 tests
Alveolar capillary dysplasia with pulmonary venous misalignment4 tests
Alveolar rhabdomyosarcoma1 test
Alzheimer disease6 tests
Alzheimer disease 26 tests
Alzheimer disease 33 tests
Alzheimer disease 43 tests
Alzheimer disease 91 test
Amelocerebrohypohidrotic syndrome2 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta hypomaturation type 2A21 test
Amelogenesis imperfecta hypomaturation type 2A31 test
Amelogenesis imperfecta hypomaturation type 2A51 test
Amelogenesis imperfecta type 1A3 tests
Amelogenesis imperfecta type 1C1 test
Amelogenesis imperfecta type 1E1 test
Amelogenesis imperfecta type 1G2 tests
Amelogenesis imperfecta type 1H1 test
Amelogenesis imperfecta type 2A11 test
Amelogenesis imperfecta, hypocalcification type1 test
Amelogenesis imperfecta, hypomaturation type, IIa61 test
Aminoacylase 1 deficiency1 test
Aminoglycoside-induced deafness2 tests
Amyloidosis, primary localized cutaneous, 11 test
Amyloidosis, primary localized cutaneous, 21 test
Amyotrophic lateral sclerosis type 13 tests
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 112 tests
Amyotrophic lateral sclerosis type 122 tests
Amyotrophic lateral sclerosis type 152 tests
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 2, juvenile2 tests
Amyotrophic lateral sclerosis type 201 test
Amyotrophic lateral sclerosis type 222 tests
Amyotrophic lateral sclerosis type 45 tests
Amyotrophic lateral sclerosis type 52 tests
Amyotrophic lateral sclerosis type 62 tests
Amyotrophic lateral sclerosis type 83 tests
Amyotrophic lateral sclerosis type 91 test
Anauxetic dysplasia 14 tests
Andersen Tawil syndrome6 tests
Androgen resistance syndrome2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Aneurysm-osteoarthritis syndrome4 tests
Angelman syndrome6 tests
Aniridia 16 tests
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome4 tests
Annular epidermolytic ichthyosis4 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome3 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 43 tests
Anterior segment dysgenesis 61 test
Anterior segment dysgenesis 71 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis5 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis3 tests
Aortic aneurysm, familial thoracic 11, susceptibility to3 tests
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 14 tests
Aortic valve disease 22 tests
Aplastic anemia11 tests
Apolipoprotein c-III deficiency2 tests
Apparent mineralocorticoid excess1 test
Arginase deficiency5 tests
Arginine:glycine amidinotransferase deficiency1 test
Argininosuccinate lyase deficiency1 test
Aromatase deficiency2 tests
Aromatase excess syndrome2 tests
Arrhinia with choanal atresia and microphthalmia syndrome2 tests
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma6 tests
Arrhythmogenic right ventricular dysplasia 14 tests
Arrhythmogenic right ventricular dysplasia 103 tests
Arrhythmogenic right ventricular dysplasia 112 tests
Arrhythmogenic right ventricular dysplasia 124 tests
Arrhythmogenic right ventricular dysplasia 131 test
Arrhythmogenic right ventricular dysplasia 24 tests
Arrhythmogenic right ventricular dysplasia 53 tests
Arrhythmogenic right ventricular dysplasia 86 tests
Arrhythmogenic right ventricular dysplasia 92 tests
Arterial calcification, generalized, of infancy, 16 tests
Arterial calcification, generalized, of infancy, 24 tests
Arterial tortuosity syndrome3 tests
Arthrogryposis, distal, type 1A3 tests
Arthrogryposis, distal, type 1B2 tests
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis, renal dysfunction, and cholestasis 13 tests
Arthrogryposis, renal dysfunction, and cholestasis 23 tests
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Arts syndrome6 tests
Aspartylglucosaminuria3 tests
Asperger syndrome, X-linked, susceptibility to, 12 tests
Asperger syndrome, X-linked, susceptibility to, 22 tests
Asphyxiating thoracic dystrophy 24 tests
Asphyxiating thoracic dystrophy 35 tests
Asphyxiating thoracic dystrophy 49 tests
Asphyxiating thoracic dystrophy 510 tests
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2 tests
Ataxia - oculomotor apraxia type 45 tests
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia6 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome6 tests
Ataxia-pancytopenia syndrome2 tests
Ataxia-telangiectasia syndrome10 tests
Ataxia-telangiectasia-like disorder 13 tests
Atelosteogenesis type I4 tests
Atelosteogenesis type II2 tests
Atelosteogenesis type III4 tests
Atrial conduction disease1 test
Atrial fibrillation, familial, 105 tests
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 136 tests
Atrial fibrillation, familial, 152 tests
Atrial fibrillation, familial, 181 test
Atrial fibrillation, familial, 37 tests
Atrial fibrillation, familial, 43 tests
Atrial fibrillation, familial, 73 tests
Atrial fibrillation, familial, 96 tests
Atrial septal defect 22 tests
Atrial septal defect 31 test
Atrial septal defect 41 test
Atrial septal defect 52 tests
Atrial septal defect 61 test
Atrial septal defect 73 tests
Atrial septal defect 95 tests
Atrial standstill 11 test
Atrichia with papular lesions1 test
Atrioventricular septal defect 42 tests
Atrioventricular septal defect 55 tests
Atrioventricular septal defect and common atrioventricular junction4 tests
Atrioventricular septal defect, susceptibility to, 21 test
Atrophia bulborum hereditaria4 tests
Atypical glycine encephalopathy1 test
Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
Atypical hemolytic-uremic syndrome with C3 anomaly2 tests
Atypical hemolytic-uremic syndrome with I factor anomaly2 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly4 tests
Autism, susceptibility to, 154 tests
Autism, susceptibility to, X-linked 12 tests
Autism, susceptibility to, X-linked 22 tests
Autism, susceptibility to, X-linked 38 tests
Autism, susceptibility to, X-linked 42 tests
Autism, susceptibility to, X-linked 52 tests
Autoimmune lymphoproliferative syndrome type 12 tests
Autoimmune lymphoproliferative syndrome type 46 tests
Autoimmune thyroid disease, susceptibility to, 31 test
Autosomal dominant Alport syndrome2 tests
Autosomal dominant aplasia and myelodysplasia3 tests
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy2 tests
Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures2 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures4 tests
Autosomal dominant distal renal tubular acidosis2 tests
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome8 tests
Autosomal dominant hypocalcemia 17 tests
Autosomal dominant hypocalcemia 23 tests
Autosomal dominant hypophosphatemic rickets5 tests
Autosomal dominant Kenny-Caffey syndrome1 test
Autosomal dominant keratitis6 tests
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome6 tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
Autosomal dominant limb-girdle muscular dystrophy type 1F2 tests
Autosomal dominant mitochondrial myopathy with exercise intolerance4 tests
Autosomal dominant nocturnal frontal lobe epilepsy 12 tests
Autosomal dominant nocturnal frontal lobe epilepsy 32 tests
Autosomal dominant nocturnal frontal lobe epilepsy 42 tests
Autosomal dominant nocturnal frontal lobe epilepsy 53 tests
Autosomal dominant nonsyndromic hearing loss 12 tests
Autosomal dominant nonsyndromic hearing loss 102 tests
Autosomal dominant nonsyndromic hearing loss 115 tests
Autosomal dominant nonsyndromic hearing loss 123 tests
Autosomal dominant nonsyndromic hearing loss 1311 tests
Autosomal dominant nonsyndromic hearing loss 152 tests
Autosomal dominant nonsyndromic hearing loss 176 tests
Autosomal dominant nonsyndromic hearing loss 206 tests
Autosomal dominant nonsyndromic hearing loss 223 tests
Autosomal dominant nonsyndromic hearing loss 233 tests
Autosomal dominant nonsyndromic hearing loss 252 tests
Autosomal dominant nonsyndromic hearing loss 282 tests
Autosomal dominant nonsyndromic hearing loss 2A2 tests
Autosomal dominant nonsyndromic hearing loss 2B4 tests
Autosomal dominant nonsyndromic hearing loss 363 tests
Autosomal dominant nonsyndromic hearing loss 3A6 tests
Autosomal dominant nonsyndromic hearing loss 3B5 tests
Autosomal dominant nonsyndromic hearing loss 402 tests
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 502 tests
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 612 tests
Autosomal dominant nonsyndromic hearing loss 642 tests
Autosomal dominant nonsyndromic hearing loss 655 tests
Autosomal dominant nonsyndromic hearing loss 661 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 691 test
Autosomal dominant nonsyndromic hearing loss 92 tests
Autosomal dominant optic atrophy classic form10 tests
Autosomal dominant osteopetrosis 18 tests
Autosomal dominant osteopetrosis 22 tests
Autosomal dominant palmoplantar keratoderma and congenital alopecia4 tests
Autosomal dominant Parkinson disease 14 tests
Autosomal dominant Parkinson disease 44 tests
Autosomal dominant Parkinson disease 81 test
Autosomal dominant popliteal pterygium syndrome4 tests
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant Robinow syndrome 13 tests
Autosomal dominant Robinow syndrome 22 tests
Autosomal dominant vitreoretinochoroidopathy5 tests
Autosomal recessive Alport syndrome2 tests
Autosomal recessive ataxia due to ubiquinone deficiency3 tests
Autosomal recessive ataxia, Beauce type5 tests
Autosomal recessive bestrophinopathy5 tests
Autosomal recessive complex spastic paraplegia type 9B6 tests
Autosomal recessive congenital ichthyosis 12 tests
Autosomal recessive congenital ichthyosis 102 tests
Autosomal recessive congenital ichthyosis 111 test
Autosomal recessive congenital ichthyosis 22 tests
Autosomal recessive congenital ichthyosis 32 tests
Autosomal recessive congenital ichthyosis 4A2 tests
Autosomal recessive congenital ichthyosis 4B2 tests
Autosomal recessive congenital ichthyosis 52 tests
Autosomal recessive congenital ichthyosis 62 tests
Autosomal recessive congenital ichthyosis 81 test
Autosomal recessive congenital ichthyosis 92 tests
Autosomal recessive cutis laxa type 2B4 tests
Autosomal recessive distal renal tubular acidosis1 test
Autosomal recessive distal spinal muscular atrophy 12 tests
Autosomal recessive distal spinal muscular atrophy 21 test
Autosomal recessive DOPA responsive dystonia3 tests
Autosomal recessive early-onset Parkinson disease 61 test
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive hypophosphatemic bone disease6 tests
Autosomal recessive inherited pseudoxanthoma elasticum5 tests
Autosomal recessive juvenile Parkinson disease 21 test
Autosomal recessive Kenny-Caffey syndrome3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Q4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2R12 tests
Autosomal recessive limb-girdle muscular dystrophy type 2T3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2W2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Y2 tests
Autosomal recessive limb-girdle muscular dystrophy type R182 tests
Autosomal recessive multiple pterygium syndrome3 tests
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 1041 test
Autosomal recessive nonsyndromic hearing loss 123 tests
Autosomal recessive nonsyndromic hearing loss 152 tests
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A3 tests
Autosomal recessive nonsyndromic hearing loss 18B2 tests
Autosomal recessive nonsyndromic hearing loss 1A6 tests
Autosomal recessive nonsyndromic hearing loss 1B5 tests
Autosomal recessive nonsyndromic hearing loss 25 tests
Autosomal recessive nonsyndromic hearing loss 213 tests
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 234 tests
Autosomal recessive nonsyndromic hearing loss 242 tests
Autosomal recessive nonsyndromic hearing loss 252 tests
Autosomal recessive nonsyndromic hearing loss 282 tests
Autosomal recessive nonsyndromic hearing loss 292 tests
Autosomal recessive nonsyndromic hearing loss 32 tests
Autosomal recessive nonsyndromic hearing loss 302 tests
Autosomal recessive nonsyndromic hearing loss 312 tests
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 352 tests
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 373 tests
Autosomal recessive nonsyndromic hearing loss 392 tests
Autosomal recessive nonsyndromic hearing loss 47 tests
Autosomal recessive nonsyndromic hearing loss 422 tests
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 483 tests
Autosomal recessive nonsyndromic hearing loss 492 tests
Autosomal recessive nonsyndromic hearing loss 5311 tests
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 62 tests
Autosomal recessive nonsyndromic hearing loss 612 tests
Autosomal recessive nonsyndromic hearing loss 632 tests
Autosomal recessive nonsyndromic hearing loss 665 tests
Autosomal recessive nonsyndromic hearing loss 672 tests
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 73 tests
Autosomal recessive nonsyndromic hearing loss 704 tests
Autosomal recessive nonsyndromic hearing loss 742 tests
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 773 tests
Autosomal recessive nonsyndromic hearing loss 792 tests
Autosomal recessive nonsyndromic hearing loss 82 tests
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 865 tests
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive nonsyndromic hearing loss 92 tests
Autosomal recessive nonsyndromic hearing loss 912 tests
Autosomal recessive nonsyndromic hearing loss 932 tests
Autosomal recessive nonsyndromic hearing loss 974 tests
Autosomal recessive nonsyndromic hearing loss 982 tests
Autosomal recessive optic atrophy, OPA7 type6 tests
Autosomal recessive osteopetrosis 12 tests
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 42 tests
Autosomal recessive osteopetrosis 51 test
Autosomal recessive osteopetrosis 73 tests
Autosomal recessive osteopetrosis 84 tests
Autosomal recessive Parkinson disease 141 test
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive pseudohypoaldosteronism type 14 tests
Autosomal recessive Robinow syndrome4 tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2 tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2 tests
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency2 tests
Autosomal recessive spastic paraplegia type 762 tests
Autosomal recessive spastic paraplegia type 784 tests
Autosomal recessive spinocerebellar ataxia 103 tests
Autosomal recessive spinocerebellar ataxia 111 test
Autosomal recessive spinocerebellar ataxia 124 tests
Autosomal recessive spinocerebellar ataxia 132 tests
Autosomal recessive spinocerebellar ataxia 142 tests
Autosomal recessive spinocerebellar ataxia 151 test
Autosomal recessive spinocerebellar ataxia 162 tests
Autosomal recessive spinocerebellar ataxia 172 tests
Autosomal recessive spinocerebellar ataxia 181 test
Autosomal recessive spinocerebellar ataxia 201 test
Autosomal recessive spinocerebellar ataxia 75 tests
Avascular necrosis of femoral head, primary, 112 tests
Avascular necrosis of femoral head, primary, 26 tests
Avellino corneal dystrophy2 tests
Axenfeld-Rieger syndrome type 13 tests
Axenfeld-Rieger syndrome type 31 test
Ayme-Gripp syndrome3 tests
B4GALT1-congenital disorder of glycosylation1 test
Baller-Gerold syndrome9 tests
Bamforth-Lazarus syndrome2 tests
BAP1-related tumor predisposition syndrome2 tests
Baraitser-Winter syndrome 16 tests
Baraitser-winter syndrome 26 tests
Barber-Say syndrome1 test
Bardet-Biedl syndrome 18 tests
Bardet-Biedl syndrome 107 tests
Bardet-Biedl syndrome 119 tests
Bardet-Biedl syndrome 127 tests
Bardet-Biedl syndrome 1311 tests
Bardet-Biedl syndrome 1413 tests
Bardet-Biedl syndrome 156 tests
Bardet-Biedl syndrome 166 tests
Bardet-Biedl syndrome 173 tests
Bardet-Biedl syndrome 183 tests
Bardet-Biedl syndrome 28 tests
Bardet-biedl syndrome 215 tests
Bardet-Biedl syndrome 38 tests
Bardet-Biedl syndrome 48 tests
Bardet-Biedl syndrome 57 tests
Bardet-Biedl syndrome 67 tests
Bardet-Biedl syndrome 77 tests
Bardet-Biedl syndrome 88 tests
Bardet-Biedl syndrome 97 tests
Bartsocas-Papas syndrome 12 tests
Bartter disease type 12 tests
Bartter disease type 22 tests
Bartter disease type 32 tests
Bartter disease type 4A4 tests
Bartter disease type 4B2 tests
Basal cell carcinoma, susceptibility to, 18 tests
Basal cell carcinoma, susceptibility to, 714 tests
Basal ganglia calcification, idiopathic, 42 tests
Basal ganglia calcification, idiopathic, 53 tests
Basal laminar drusen3 tests
Beare-Stevenson cutis gyrata syndrome3 tests
Becker muscular dystrophy4 tests
Beckwith-Wiedemann syndrome8 tests
Benign familial hematuria2 tests
Benign hereditary chorea5 tests
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Bent bone dysplasia syndrome 13 tests
Bernard Soulier syndrome3 tests
Bernard-Soulier syndrome, type A2, autosomal dominant3 tests
Beta-D-mannosidosis1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency7 tests
Beta-thalassemia-X-linked thrombocytopenia syndrome4 tests
Bethlem myopathy 1A3 tests
Bethlem myopathy 21 test
Bietti crystalline corneoretinal dystrophy6 tests
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral frontoparietal polymicrogyria2 tests
Bilateral parasagittal parieto-occipital polymicrogyria2 tests
Bilirubin, serum level of, quantitative trait locus 12 tests
Biotin-responsive basal ganglia disease3 tests
Biotinidase deficiency4 tests
Birt-Hogg-Dube syndrome3 tests
Blau syndrome1 test
Bleeding disorder, platelet-type, 13, susceptibility to2 tests
Bleeding disorder, platelet-type, 212 tests
Blepharocheilodontic syndrome 15 tests
Blepharophimosis - intellectual disability syndrome, MKB type6 tests
Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
Blood group, I system1 test
Blood group, Indian system1 test
BLOOD GROUP--DIEGO SYSTEM2 tests
BLOOD GROUP--FROESE2 tests
BLOOD GROUP--SWANN SYSTEM2 tests
BLOOD GROUP--WALDNER TYPE2 tests
BLOOD GROUP--WRIGHT ANTIGEN2 tests
Bloom syndrome6 tests
BNAR syndrome3 tests
Body mass index quantitative trait locus 121 test
Body mass index quantitative trait locus 42 tests
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency3 tests
Bohring-Opitz syndrome1 test
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone marrow failure syndrome 31 test
Bone mineral density quantitative trait locus 18 tests
Bone mineral density quantitative trait locus 184 tests
Bone osteosarcoma16 tests
Boomerang dysplasia4 tests
Borjeson-Forssman-Lehmann syndrome3 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome4 tests
Bothnia retinal dystrophy5 tests
Brachydactyly type A1A4 tests
Brachydactyly type A1C6 tests
Brachydactyly type A1D4 tests
Brachydactyly type B14 tests
Brachydactyly type B23 tests
Brachydactyly type C6 tests
Brachydactyly type D2 tests
Brachydactyly type E12 tests
Brachydactyly type E22 tests
Brachydactyly-syndactyly syndrome2 tests
Brachyolmia-amelogenesis imperfecta syndrome1 test
Brachyrachia (short spine dysplasia)6 tests
Bradyopsia3 tests
Brain small vessel disease 1 with or without ocular anomalies8 tests
Brain-lung-thyroid syndrome5 tests
Branchiooculofacial syndrome2 tests
Branchiootic syndrome 14 tests
Branchiootic syndrome 33 tests
Branchiootorenal syndrome 14 tests
Branchiootorenal syndrome 23 tests
Breast-ovarian cancer, familial, susceptibility to, 18 tests
Breast-ovarian cancer, familial, susceptibility to, 212 tests
Breast-ovarian cancer, familial, susceptibility to, 37 tests
Breast-ovarian cancer, familial, susceptibility to, 44 tests
Brittle cornea syndrome 13 tests
Brittle cornea syndrome 21 test
Bronchiectasis with or without elevated sweat chloride 110 tests
Bronchiectasis with or without elevated sweat chloride 23 tests
Bronchiectasis with or without elevated sweat chloride 32 tests
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 25 tests
Bruck syndrome 15 tests
Bruck syndrome 25 tests
Brugada syndrome 15 tests
Brugada syndrome 35 tests
Brugada syndrome 44 tests
Brugada syndrome 56 tests
Brugada syndrome 73 tests
Brugada syndrome 83 tests
Brugada syndrome 92 tests
Brunner syndrome1 test
Budd-Chiari syndrome2 tests
Bullous ichthyosiform erythroderma4 tests
C1 inhibitor deficiency1 test
C1Q deficiency1 test
Café-au-lait macules with pulmonary stenosis14 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome8 tests
Camptomelic dysplasia6 tests
Camptosynpolydactyly, complex1 test
Capillary infantile hemangioma2 tests
Capillary malformation-arteriovenous malformation 15 tests
CARASIL syndrome3 tests
Carcinoid tumor of intestine4 tests
Carcinoma of pancreas22 tests
Cardiac arrhythmia, ankyrin-B-related3 tests
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1 test
Cardiac valvular dysplasia, X-linked12 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 13 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 23 tests
Cardiofaciocutaneous syndrome 15 tests
Cardiofaciocutaneous syndrome 24 tests
Cardiofaciocutaneous syndrome 34 tests
Cardiofaciocutaneous syndrome 44 tests
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis6 tests
Cardiomyopathy, familial restrictive, 12 tests
Cardiomyopathy, familial restrictive, 31 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome2 tests
Carney complex - trismus - pseudocamptodactyly syndrome2 tests
Carney complex, type 15 tests
Carney-Stratakis syndrome4 tests
Carnitine acylcarnitine translocase deficiency4 tests
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyl transferase II deficiency, myopathic form7 tests
Carnitine palmitoyl transferase II deficiency, neonatal form7 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form7 tests
Carotid intimal medial thickness 15 tests
Carpal tunnel syndrome 11 test
Cataract 1 multiple types2 tests
Cataract 10 multiple types1 test
Cataract 11 multiple types1 test
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 types3 tests
Cataract 17 multiple types1 test
Cataract 181 test
Cataract 19 multiple types1 test
Cataract 2, multiple types1 test
Cataract 20 multiple types1 test
Cataract 21 multiple types3 tests
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 types3 tests
Cataract 361 test
Cataract 383 tests
Cataract 4 multiple types1 test
Cataract 402 tests
Cataract 4112 tests
Cataract 5 multiple types1 test
Cataract 6 multiple types1 test
Cataract 9 multiple types1 test
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
Catecholaminergic polymorphic ventricular tachycardia 14 tests
Catecholaminergic polymorphic ventricular tachycardia 22 tests
Catecholaminergic polymorphic ventricular tachycardia 33 tests
Catecholaminergic polymorphic ventricular tachycardia 43 tests
Catecholaminergic polymorphic ventricular tachycardia 52 tests
Catel-Manzke syndrome2 tests
Cayman type cerebellar ataxia2 tests
CBL-related disorder5 tests
CEDNIK syndrome2 tests
Cenani-Lenz syndactyly syndrome1 test
Centra precocious puberty 12 tests
Central core myopathy4 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 14 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 32 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42 tests
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome6 tests
Cerebellar ataxia-hypogonadism syndrome4 tests
Cerebellar atrophy, visual impairment, and psychomotor retardation;1 test
Cerebellar dysfunction with variable cognitive and behavioral abnormalities2 tests
Cerebral amyloid angiopathy, APP-related4 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 14 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 23 tests
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 22 tests
Cerebral cavernous malformation 32 tests
Cerebral folate transport deficiency4 tests
Cerebrooculofacioskeletal syndrome 13 tests
Cerebrooculofacioskeletal syndrome 26 tests
Cerebrooculofacioskeletal syndrome 35 tests
Cerebrooculofacioskeletal syndrome 42 tests
Cerebroretinal microangiopathy with calcifications and cysts 18 tests
Cernunnos-XLF deficiency1 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)2 tests
Ceroid lipofuscinosis, neuronal, 6A3 tests
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)3 tests
Cervical cancer8 tests
CFHR5 deficiency1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive2 tests
Char syndrome1 test
Charcot-Marie-Tooth disease axonal type 2C6 tests
Charcot-Marie-Tooth disease axonal type 2F2 tests
Charcot-Marie-Tooth disease axonal type 2L2 tests
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O4 tests
Charcot-Marie-Tooth disease axonal type 2S2 tests
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease axonal type 2V1 test
Charcot-Marie-Tooth disease axonal type 2X2 tests
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease recessive intermediate C1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A25 tests
Charcot-Marie-Tooth disease type 2B111 tests
Charcot-Marie-Tooth disease type 2D2 tests
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2Y2 tests
Charcot-Marie-Tooth disease type 4E1 test
Charcot-Marie-Tooth disease type 4G2 tests
Charcot-Marie-Tooth disease type 4J2 tests
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease X-linked recessive 42 tests
Charcot-Marie-Tooth disease X-linked recessive 56 tests
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;5 tests
CHARGE association5 tests
Charlevoix-Saguenay spastic ataxia3 tests
Chilblain lupus 15 tests
Chilblain lupus 24 tests
Child syndrome6 tests
Childhood apraxia of speech1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
Childhood hypophosphatasia8 tests
Childhood onset GLUT1 deficiency syndrome 210 tests
Chitayat syndrome2 tests
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome2 tests
Cholestanol storage disease6 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Cholestasis, progressive familial intrahepatic, 43 tests
Cholestasis, progressive familial intrahepatic, 52 tests
Chondrocalcinosis 24 tests
Chondrodysplasia Blomstrand type4 tests
Chondrodysplasia punctata 2 X-linked dominant4 tests
Chondrodysplasia with joint dislocations, gPAPP type1 test
Chondrosarcoma3 tests
Chorea-acanthocytosis3 tests
Choroid plexus papilloma14 tests
Choroidal dystrophy, central areolar 25 tests
Choroideremia3 tests
Christianson syndrome5 tests
Chromosome 17q11.2 deletion syndrome, 1.4Mb1 test
Chromosome 2p16.3 deletion syndrome3 tests
Chromosome 2q32-q33 deletion syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chudley-McCullough syndrome6 tests
Chuvash polycythemia6 tests
Chylomicron retention disease1 test
Chédiak-Higashi syndrome3 tests
CIDEC-related familial partial lipodystrophy1 test
Ciliary dyskinesia, primary, 36, X-linked3 tests
Ciliary dyskinesia, primary, 372 tests
Citrullinemia type I1 test
Citrullinemia, type II, adult-onset2 tests
CK syndrome6 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Classic dopamine transporter deficiency syndrome2 tests
Classic homocystinuria6 tests
Cleft palate with or without ankyloglossia, X-linked1 test
Cleidocranial dysostosis3 tests
CLOVES syndrome5 tests
COACH syndrome 19 tests
Cobalamin C disease3 tests
Cobblestone lissencephaly without muscular or ocular involvement3 tests
Cockayne syndrome type 12 tests
Cockayne syndrome type 23 tests
Cocoon syndrome1 test
CODAS syndrome1 test
Coenzyme Q10 deficiency, primary, 15 tests
Coenzyme Q10 deficiency, primary, 32 tests
Coffin-Lowry syndrome3 tests
COG1 congenital disorder of glycosylation1 test
COG4-congenital disorder of glycosylation1 test
COG5-congenital disorder of glycosylation1 test
COG6-ongenital disorder of glycosylation1 test
COG7 congenital disorder of glycosylation1 test
COG8-congenital disorder of glycosylation1 test
Cognitive impairment with or without cerebellar ataxia4 tests
Cohen syndrome6 tests
Cohen-Gibson syndrome1 test
Colchicine resistance1 test
Cole-Carpenter syndrome 21 test
Coloboma of optic nerve6 tests
Coloboma, ocular, autosomal dominant6 tests
Colorectal cancer37 tests
Colorectal cancer, hereditary nonpolyposis, type 213 tests
Colorectal cancer, hereditary nonpolyposis, type 66 tests
Colorectal cancer, susceptibility to, 101 test
Colorectal cancer, susceptibility to, 121 test
Colorectal carcinoma4 tests
Combined deficiency of sialidase AND beta galactosidase1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined malonic and methylmalonic acidemia2 tests
Combined oxidative phosphorylation defect type 112 tests
Combined oxidative phosphorylation defect type 134 tests
Combined oxidative phosphorylation defect type 145 tests
Combined oxidative phosphorylation defect type 156 tests
Combined oxidative phosphorylation defect type 201 test
Combined oxidative phosphorylation defect type 232 tests
Combined oxidative phosphorylation defect type 241 test
Combined oxidative phosphorylation defect type 255 tests
Combined oxidative phosphorylation defect type 74 tests
Combined oxidative phosphorylation deficiency 281 test
Combined PSAP deficiency3 tests
Complement component 2 deficiency1 test
Complement component 3 deficiency2 tests
Complement component 5 deficiency1 test
Complement component 6 deficiency1 test
Complement component 7 deficiency1 test
Complement component 9 deficiency1 test
Complement component C1s deficiency1 test
Complement factor b deficiency2 tests
Complete trisomy 21 syndrome4 tests
Complex cortical dysplasia with other brain malformations 13 tests
Complex cortical dysplasia with other brain malformations 42 tests
Complex cortical dysplasia with other brain malformations 52 tests
Complex cortical dysplasia with other brain malformations 74 tests
Compton-North congenital myopathy1 test
Cone dystrophy 32 tests
Cone dystrophy 43 tests
Cone dystrophy with supernormal rod response2 tests
Cone-rod dystrophy 103 tests
Cone-rod dystrophy 113 tests
Cone-rod dystrophy 126 tests
Cone-rod dystrophy 134 tests
Cone-rod dystrophy 153 tests
Cone-rod dystrophy 165 tests
Cone-rod dystrophy 182 tests
Cone-rod dystrophy 192 tests
Cone-rod dystrophy 25 tests
Cone-rod dystrophy 203 tests
Cone-rod dystrophy 212 tests
Cone-rod dystrophy 36 tests
Cone-rod dystrophy 53 tests
Cone-rod dystrophy 64 tests
Cone-rod dystrophy 73 tests
Cone-rod dystrophy 92 tests
Cone-rod dystrophy and hearing loss 12 tests
Cone-rod synaptic disorder, congenital nonprogressive4 tests
Congenital absence of salivary gland1 test
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency5 tests
Congenital adrenal hypoplasia, X-linked1 test
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2 tests
Congenital afibrinogenemia3 tests
Congenital amegakaryocytic thrombocytopenia3 tests
Congenital anomalies of kidney and urinary tract 11 test
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation8 tests
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital bile acid synthesis defect 32 tests
Congenital bile acid synthesis defect 43 tests
Congenital bile acid synthesis defect 51 test
Congenital brain dysgenesis due to glutamine synthetase deficiency1 test
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation10 tests
Congenital contractural arachnodactyly5 tests
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital defect of folate absorption4 tests
Congenital diarrhea 5 with tufting enteropathy10 tests
Congenital disorder of deglycosylation1 test
Congenital disorder of glycosylation type 1E1 test
Congenital disorder of glycosylation type Ir1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital fibrosis of extraocular muscles type 11 test
Congenital generalized lipodystrophy type 13 tests
Congenital generalized lipodystrophy type 27 tests
Congenital generalized lipodystrophy type 33 tests
Congenital generalized lipodystrophy type 41 test
Congenital glucose-galactose malabsorption1 test
Congenital heart defects and ectodermal dysplasia2 tests
Congenital heart defects and skeletal malformations syndrome3 tests
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
Congenital heart defects, multiple types, 21 test
Congenital heart defects, multiple types, 41 test
Congenital heart defects, multiple types, 62 tests
Congenital hereditary endothelial dystrophy of cornea1 test
Congenital hyperammonemia, type I1 test
Congenital hypotrichosis with juvenile macular dystrophy3 tests
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome6 tests
Congenital lactase deficiency2 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type5 tests
Congenital lipoid adrenal hyperplasia due to STAR deficency4 tests
Congenital malabsorptive diarrhea 43 tests
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome2 tests
Congenital microvillous atrophy1 test
Congenital multicore myopathy with external ophthalmoplegia4 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency3 tests
Congenital muscular dystrophy due to LMNA mutation11 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
Congenital muscular hypertrophy-cerebral syndrome5 tests
Congenital myasthenic syndrome 103 tests
Congenital myasthenic syndrome 115 tests
Congenital myasthenic syndrome 122 tests
Congenital myasthenic syndrome 133 tests
Congenital myasthenic syndrome 141 test
Congenital myasthenic syndrome 165 tests
Congenital myasthenic syndrome 171 test
Congenital myasthenic syndrome 182 tests
Congenital myasthenic syndrome 1A5 tests
Congenital myasthenic syndrome 201 test
Congenital myasthenic syndrome 2A4 tests
Congenital myasthenic syndrome 2C4 tests
Congenital myasthenic syndrome 3A5 tests
Congenital myasthenic syndrome 3B5 tests
Congenital myasthenic syndrome 3C5 tests
Congenital myasthenic syndrome 4A5 tests
Congenital myasthenic syndrome 4B5 tests
Congenital myasthenic syndrome 4C5 tests
Congenital myasthenic syndrome 55 tests
Congenital myasthenic syndrome 82 tests
Congenital myasthenic syndrome 93 tests
Congenital myopathy 233 tests
Congenital myopathy 4B, autosomal recessive2 tests
Congenital myopathy with fiber type disproportion3 tests
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form1 test
Congenital neutropenia-myelofibrosis-nephromegaly syndrome2 tests
Congenital nongoitrous hypothryoidism 61 test
Congenital primary aphakia3 tests
Congenital prothrombin deficiency2 tests
Congenital reticular ichthyosiform erythroderma2 tests
Congenital secretory diarrhea, chloride type1 test
Congenital short bowel syndrome, autosomal recessive1 test
Congenital sodium diarrhea1 test
Congenital stationary night blindness 1A2 tests
Congenital stationary night blindness 1B2 tests
Congenital stationary night blindness 1C2 tests
Congenital stationary night blindness 1D1 test
Congenital stationary night blindness 1E2 tests
Congenital stationary night blindness 1F2 tests
Congenital stationary night blindness 1G2 tests
Congenital stationary night blindness 1H1 test
Congenital stationary night blindness 2A3 tests
Congenital stationary night blindness autosomal dominant 14 tests
Congenital stationary night blindness autosomal dominant 23 tests
Congenital stationary night blindness autosomal dominant 32 tests
Congenital stromal corneal dystrophy1 test
Conotruncal heart malformations7 tests
Constitutional megaloblastic anemia with severe neurologic disease2 tests
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A3 tests
COPD, severe early onset4 tests
Cornea plana 21 test
Corneal dystrophy, Fuchs endothelial, 11 test
Corneal dystrophy, Fuchs endothelial, 36 tests
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, lattice type 3A2 tests
Corneal dystrophy, Meesmann, 11 test
Corneal dystrophy-perceptive deafness syndrome1 test
Cornelia de Lange syndrome 13 tests
Cornelia de Lange syndrome 33 tests
Cornelia de Lange syndrome 42 tests
Cornelia de Lange syndrome 53 tests
Coronary artery disease, autosomal dominant 23 tests
Coronary artery disease, autosomal dominant, 11 test
Corpus callosum agenesis-abnormal genitalia syndrome7 tests
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome1 test
Cortical dysplasia-focal epilepsy syndrome4 tests
Costello syndrome8 tests
Cowden syndrome 114 tests
Cowden syndrome 55 tests
Cowden syndrome 61 test
Cowden syndrome 71 test
Coxopodopatellar syndrome1 test
Craniodiaphyseal dysplasia, autosomal dominant2 tests
Cranioectodermal dysplasia 16 tests
Cranioectodermal dysplasia 28 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 410 tests
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11 test
Craniofacial dysplasia - osteopenia syndrome1 test
Craniofacial-deafness-hand syndrome1 test
Craniofrontonasal syndrome3 tests
Craniometaphyseal dysplasia, autosomal dominant4 tests
Craniometaphyseal dysplasia, autosomal recessive4 tests
Craniosynostosis 22 tests
Craniosynostosis 42 tests
Craniosynostosis 5, susceptibility to3 tests
Craniosynostosis 61 test
Craniosynostosis 72 tests
Craniosynostosis and dental anomalies2 tests
Creatine transporter deficiency4 tests
Crigler-Najjar syndrome type 12 tests
Crigler-Najjar syndrome, type II2 tests
Cromer blood group system1 test
Crouzon syndrome3 tests
Crouzon syndrome-acanthosis nigricans syndrome8 tests
Cryohydrocytosis2 tests
Curry-Hall syndrome6 tests
Cutaneous porphyria1 test
Cutis laxa with osteodystrophy6 tests
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies4 tests
Cutis laxa, autosomal dominant 17 tests
Cutis laxa, autosomal dominant 26 tests
Cutis laxa, autosomal dominant 36 tests
Cutis laxa, autosomal recessive, type 1A6 tests
Cutis laxa, autosomal recessive, type 1B7 tests
Cutis laxa, X-linked5 tests
Cyclical neutropenia2 tests
CYP2C19-related poor drug metabolism1 test
Cystathioninuria1 test
Cystic fibrosis10 tests
Cystic leukoencephalopathy without megalencephaly2 tests
Cystinuria2 tests
D-2-hydroxyglutaric aciduria 15 tests
D-2-hydroxyglutaric aciduria 21 test
Dalmatian hypouricemia1 test
Danon disease6 tests
DDX41-related hematologic malignancy predisposition syndrome2 tests
DE SANCTIS-CACCHIONE SYNDROME3 tests
Deafness dystonia syndrome5 tests
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12 tests
Deafness, X-linked 52 tests
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
Deafness-lymphedema-leukemia syndrome5 tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of alpha-mannosidase1 test
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of ferroxidase1 test
Deficiency of galactokinase5 tests
Deficiency of guanidinoacetate methyltransferase6 tests
Deficiency of hyaluronoglucosaminidase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase4 tests
Deficiency of iodide peroxidase1 test
Deficiency of isobutyryl-CoA dehydrogenase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of steroid 11-beta-monooxygenase2 tests
Deficiency of steroid 17-alpha-monooxygenase3 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase6 tests
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
Dejerine-Sottas disease1 test
Dent disease type 15 tests
Dent disease type 23 tests
Denticles2 tests
Dentinogenesis imperfecta type 22 tests
Dentinogenesis imperfecta type 32 tests
Dermatitis, atopic, 22 tests
Dermatofibrosarcoma protuberans3 tests
Dermatofibrosis lenticularis disseminata1 test
Dermatopathia pigmentosa reticularis3 tests
Desbuquois dysplasia 12 tests
Desbuquois dysplasia 22 tests
Desmin-related myofibrillar myopathy3 tests
Desmoid disease, hereditary7 tests
Desmosterolosis3 tests
Developmental and epileptic encephalopathy 942 tests
Developmental and epileptic encephalopathy, 17 tests
Developmental and epileptic encephalopathy, 114 tests
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 134 tests
Developmental and epileptic encephalopathy, 143 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 165 tests
Developmental and epileptic encephalopathy, 172 tests
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 193 tests
Developmental and epileptic encephalopathy, 25 tests
Developmental and epileptic encephalopathy, 212 tests
Developmental and epileptic encephalopathy, 232 tests
Developmental and epileptic encephalopathy, 243 tests
Developmental and epileptic encephalopathy, 252 tests
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 273 tests
Developmental and epileptic encephalopathy, 284 tests
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 32 tests
Developmental and epileptic encephalopathy, 302 tests
Developmental and epileptic encephalopathy, 312 tests
Developmental and epileptic encephalopathy, 323 tests
Developmental and epileptic encephalopathy, 333 tests
Developmental and epileptic encephalopathy, 342 tests
Developmental and epileptic encephalopathy, 363 tests
Developmental and epileptic encephalopathy, 43 tests
Developmental and epileptic encephalopathy, 425 tests
Developmental and epileptic encephalopathy, 433 tests
Developmental and epileptic encephalopathy, 443 tests
Developmental and epileptic encephalopathy, 472 tests
Developmental and epileptic encephalopathy, 52 tests
Developmental and epileptic encephalopathy, 526 tests
Developmental and epileptic encephalopathy, 533 tests
Developmental and epileptic encephalopathy, 542 tests
Developmental and epileptic encephalopathy, 74 tests
Developmental and epileptic encephalopathy, 83 tests
Developmental and epileptic encephalopathy, 93 tests
Developmental delay with autism spectrum disorder and gait instability1 test
Developmental malformations-deafness-dystonia syndrome6 tests
Diabetes insipidus, nephrogenic, autosomal1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diabetes mellitus type 14 tests
Diabetes mellitus, ketosis-prone3 tests
Diabetes mellitus, noninsulin-dependent, 52 tests
Diabetes mellitus, transient neonatal, 11 test
Diabetes mellitus, transient neonatal, 24 tests
Diabetes mellitus, transient neonatal, 34 tests
Diamond-Blackfan anemia 12 tests
Diamond-Blackfan anemia 102 tests
Diamond-Blackfan anemia 122 tests
Diamond-Blackfan anemia 132 tests
Diamond-Blackfan anemia 32 tests
Diamond-Blackfan anemia 52 tests
Diamond-Blackfan anemia 62 tests
Diamond-Blackfan anemia 72 tests
Diamond-Blackfan anemia 82 tests
Diamond-Blackfan anemia 92 tests
Diaphragmatic hernia 32 tests
Diaphyseal dysplasia2 tests
Dias-Logan syndrome1 test
Diastrophic dysplasia2 tests
DICER1-related tumor predisposition3 tests
Diffuse nonepidermolytic palmoplantar keratoderma4 tests
DiGeorge syndrome1 test
Dihydropteridine reductase deficiency4 tests
Dihydropyrimidinase deficiency2 tests
Dihydropyrimidine dehydrogenase deficiency3 tests
Dilated cardiomyopathy 1A11 tests
Dilated cardiomyopathy 1BB3 tests
Dilated cardiomyopathy 1C3 tests
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1E5 tests
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF2 tests
Dilated cardiomyopathy 1G3 tests
Dilated cardiomyopathy 1GG4 tests
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I3 tests
Dilated cardiomyopathy 1II3 tests
Dilated cardiomyopathy 1J2 tests
Dilated cardiomyopathy 1L3 tests
Dilated cardiomyopathy 1NN3 tests
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S3 tests
Dilated cardiomyopathy 1U3 tests
Dilated cardiomyopathy 1V3 tests
Dilated cardiomyopathy 1X7 tests
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 2A2 tests
Dilated cardiomyopathy 3B4 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome11 tests
Disorder due cytochrome p450 CYP2D6 variant3 tests
Distal arthrogryposis type 2B14 tests
Distal arthrogryposis type 5D2 tests
Distal myopathy with anterior tibial onset3 tests
Distal myopathy, Tateyama type7 tests
Distichiasis-lymphedema syndrome2 tests
Dizygotic twins2 tests
DK1-congenital disorder of glycosylation1 test
DNA ligase IV deficiency1 test
Dominant dystrophic epidermolysis bullosa with absence of skin2 tests
Donnai-Barrow syndrome2 tests
DOORS syndrome5 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency3 tests
Dowling-Degos disease 12 tests
Dowling-Degos disease 42 tests
Doyne honeycomb retinal dystrophy2 tests
DPAGT1-congenital disorder of glycosylation3 tests
DPM3-congenital disorder of glycosylation1 test
Drash syndrome7 tests
Duane retraction syndrome 21 test
Duane retraction syndrome 3 with or without deafness1 test
Duane-radial ray syndrome4 tests
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy4 tests
Dyggve-Melchior-Clausen syndrome4 tests
DYRK1A-related intellectual disability syndrome1 test
Dyschromatosis universalis hereditaria 31 test
Dyskeratosis congenita, autosomal dominant 16 tests
Dyskeratosis congenita, autosomal dominant 26 tests
Dyskeratosis congenita, autosomal dominant 36 tests
Dyskeratosis congenita, autosomal dominant 61 test
Dyskeratosis congenita, autosomal recessive 13 tests
Dyskeratosis congenita, autosomal recessive 23 tests
Dyskeratosis congenita, autosomal recessive 33 tests
Dyskeratosis congenita, autosomal recessive 55 tests
Dyskeratosis congenita, autosomal recessive 64 tests
Dyskeratosis congenita, X-linked7 tests
Dyskinesia with orofacial involvement, autosomal dominant2 tests
Dyslexia, susceptibility to, 13 tests
Dystonia 126 tests
Dystonia 162 tests
Dystonia 241 test
Dystonia 251 test
Dystonia 272 tests
Dystonia 28, childhood-onset1 test
Dystonia 56 tests
Dystonia 910 tests
Early-onset generalized limb-onset dystonia1 test
Early-onset myopathy with fatal cardiomyopathy3 tests
Early-onset Parkinson disease 203 tests
Early-onset parkinsonism-intellectual disability syndrome3 tests
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2 tests
EAST syndrome4 tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 9, hair/nail type1 test
Ectopia lentis 1, isolated, autosomal dominant7 tests
Ectopia lentis 2, isolated, autosomal recessive4 tests
Ectopia lentis et pupillae4 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 34 tests
Eculizumab, poor response to1 test
EEM syndrome3 tests
Ehlers-Danlos syndrome progeroid type2 tests
Ehlers-Danlos syndrome, arthrochalasia type8 tests
Ehlers-Danlos syndrome, cardiac valvular type7 tests
Ehlers-Danlos syndrome, classic type, 19 tests
Ehlers-Danlos syndrome, dermatosparaxis type2 tests
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type2 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 13 tests
Ehlers-Danlos syndrome, musculocontractural type 13 tests
Ehlers-Danlos syndrome, musculocontractural type 21 test
Ehlers-Danlos syndrome, periodontal type 21 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type6 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 12 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 22 tests
Ehlers-Danlos syndrome, type 46 tests
Eichsfeld type congenital muscular dystrophy2 tests
Eiken syndrome4 tests
Elevated circulating creatine kinase concentration7 tests
Ellis-van Creveld syndrome6 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant11 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive11 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant5 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant3 tests
Encephalocraniocutaneous lipomatosis6 tests
Encephalopathy due to GLUT1 deficiency10 tests
Encephalopathy, acute, infection-induced, susceptibility to, 47 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 13 tests
Encephalopathy, progressive, with amyotrophy and optic atrophy3 tests
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2 tests
Endometrial carcinoma17 tests
Enhanced S-cone syndrome3 tests
Epidermal nevus23 tests
Epidermolysis bullosa pruriginosa2 tests
Epidermolysis bullosa simplex 1A, generalized severe3 tests
Epidermolysis bullosa simplex 1C, localized3 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive3 tests
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency2 tests
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy4 tests
Epidermolysis bullosa simplex 5C, with pyloric atresia4 tests
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1 test
Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
Epidermolysis bullosa simplex due to plakophilin deficiency3 tests
Epidermolysis bullosa simplex with migratory circinate erythema2 tests
Epidermolysis bullosa simplex with mottled pigmentation2 tests
Epidermolysis bullosa simplex with nail dystrophy4 tests
Epidermolysis bullosa simplex, Koebner type3 tests
Epidermolysis bullosa simplex, Ogna type4 tests
Epidermolytic palmoplantar keratoderma4 tests
Epilepsy, childhood absence, susceptibility to, 53 tests
Epilepsy, childhood absence, susceptibility to, 62 tests
Epilepsy, familial focal, with variable foci 12 tests
Epilepsy, familial temporal lobe, 12 tests
Epilepsy, idiopathic generalized, susceptibility to, 115 tests
Epilepsy, idiopathic generalized, susceptibility to, 1210 tests
Epilepsy, idiopathic generalized, susceptibility to, 133 tests
Epilepsy, idiopathic generalized, susceptibility to, 142 tests
Epilepsy, idiopathic generalized, susceptibility to, 87 tests
Epilepsy, idiopathic generalized, susceptibility to, 94 tests
Epilepsy, progressive myoclonic, 1B2 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders4 tests
Epiphyseal dysplasia, multiple, 26 tests
Epiphyseal dysplasia, multiple, 35 tests
Epiphyseal dysplasia, multiple, 66 tests
Episodic ataxia type 15 tests
Episodic ataxia type 25 tests
Episodic ataxia type 54 tests
Episodic ataxia type 63 tests
Episodic kinesigenic dyskinesia 17 tests
Episodic pain syndrome, familial, 22 tests
Epithelial basement membrane dystrophy2 tests
Epithelial recurrent erosion dystrophy3 tests
Erythrokeratodermia variabilis et progressiva 14 tests
Erythrokeratodermia variabilis et progressiva 22 tests
Erythrokeratodermia variabilis et progressiva 34 tests
Essential hypertension4 tests
Ethylmalonic encephalopathy4 tests
Euthyroid goiter3 tests
Exercise-induced hyperinsulinism2 tests
Exostoses, multiple, type 22 tests
Exudative vitreoretinopathy 13 tests
Exudative vitreoretinopathy 2, X-linked4 tests
Exudative vitreoretinopathy 48 tests
Exudative vitreoretinopathy 52 tests
Exudative vitreoretinopathy 63 tests
Exudative vitreoretinopathy 73 tests
Fabry disease2 tests
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1 test
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1 test
Facioscapulohumeral muscular dystrophy 22 tests
Factor 5 and Factor VIII, combined deficiency of, 21 test
Factor H deficiency3 tests
Factor I deficiency2 tests
Factor V and factor VIII, combined deficiency of, type 12 tests
Factor V deficiency2 tests
Factor VII deficiency2 tests
Factor XII deficiency disease2 tests
Factor XIII, A subunit, deficiency of2 tests
FADD-related immunodeficiency1 test
Familial adenomatous polyposis 17 tests
Familial adenomatous polyposis 23 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial amyloid neuropathy1 test
Familial apolipoprotein C-II deficiency3 tests
Familial atrial myxoma5 tests
Familial benign flecked retina3 tests
Familial benign pemphigus2 tests
Familial cancer of breast24 tests
Familial cold autoinflammatory syndrome 11 test
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome6 tests
Familial digital arthropathy-brachydactyly6 tests
Familial dysfibrinogenemia3 tests
Familial encephalopathy with neuroserpin inclusion bodies2 tests
Familial expansile osteolysis3 tests
Familial gestational hyperthyroidism1 test
Familial hemophagocytic lymphohistiocytosis 24 tests
Familial hemophagocytic lymphohistiocytosis 32 tests
Familial hemophagocytic lymphohistiocytosis 42 tests
Familial hemophagocytic lymphohistiocytosis 52 tests
Familial hyperaldosteronism type III4 tests
Familial hyperthyroidism due to mutations in TSH receptor1 test
Familial hypobetalipoproteinemia 15 tests
Familial hypobetalipoproteinemia 21 test
Familial hypocalciuric hypercalcemia 17 tests
Familial hypocalciuric hypercalcemia 23 tests
Familial hypocalciuric hypercalcemia 32 tests
Familial hypokalemia-hypomagnesemia2 tests
Familial idiopathic hypercalciuria1 test
Familial infantile myasthenia4 tests
Familial infantile myoclonic epilepsy5 tests
Familial isolated deficiency of vitamin E4 tests
Familial juvenile hyperuricemic nephropathy type 21 test
Familial Mediterranean fever1 test
Familial Mediterranean fever, autosomal dominant1 test
Familial medullary thyroid carcinoma10 tests
Familial meningioma18 tests
Familial partial lipodystrophy, Dunnigan type11 tests
Familial porphyria cutanea tarda2 tests
Familial pseudohyperkalemia1 test
Familial pulmonary capillary hemangiomatosis2 tests
Familial scaphocephaly syndrome, McGillivray type3 tests
Familial spontaneous pneumothorax3 tests
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
Familial temporal lobe epilepsy 74 tests
Familial thyroid dyshormonogenesis 11 test
Familial type 3 hyperlipoproteinemia6 tests
Familial type 5 hyperlipoproteinemia3 tests
Familial visceral amyloidosis, Ostertag type5 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets5 tests
Fanconi anemia complementation group A4 tests
Fanconi anemia complementation group B6 tests
Fanconi anemia complementation group C5 tests
Fanconi anemia complementation group D112 tests
Fanconi anemia complementation group D23 tests
Fanconi anemia complementation group E3 tests
Fanconi anemia complementation group F3 tests
Fanconi anemia complementation group G3 tests
Fanconi anemia complementation group I3 tests
Fanconi anemia complementation group J7 tests
Fanconi anemia complementation group L3 tests
Fanconi anemia complementation group N8 tests
Fanconi anemia complementation group O7 tests
Fanconi anemia complementation group P3 tests
Fanconi anemia complementation group Q6 tests
Fanconi anemia complementation group U4 tests
Fanconi renotubular syndrome 22 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young5 tests
Fanconi-Bickel syndrome6 tests
Farber lipogranulomatosis4 tests
Fatal familial insomnia4 tests
Fatal infantile hypertonic myofibrillar myopathy3 tests
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Fatty acyl-CoA reductase 1 deficiency2 tests
Febrile seizures, familial, 41 test
Febrile seizures, familial, 83 tests
Feingold syndrome type 15 tests
Fetal akinesia deformation sequence 15 tests
FG syndrome 16 tests
FG syndrome 212 tests
FG syndrome 47 tests
Fibrochondrogenesis 110 tests
Fibrochondrogenesis 211 tests
Fibromatosis, gingival, 14 tests
Fibromatosis, gingival, 52 tests
Fibrosis of extraocular muscles, congenital, 21 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement3 tests
Finnish congenital nephrotic syndrome1 test
Fish-eye disease2 tests
Fleck corneal dystrophy1 test
Floating-Harbor syndrome2 tests
Focal dermal hypoplasia3 tests
Focal facial dermal dysplasia type III1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 3, susceptibility to1 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 72 tests
Focal segmental glomerulosclerosis 81 test
Focal segmental glomerulosclerosis 92 tests
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
Foveal hypoplasia 16 tests
Fowler syndrome2 tests
Fragile X syndrome4 tests
Fragile X-associated tremor/ataxia syndrome4 tests
Fraser syndrome 11 test
Fraser syndrome 21 test
Fraser syndrome 31 test
Frasier syndrome7 tests
FRAXE1 test
Freeman-Sheldon syndrome3 tests
Friedreich ataxia 12 tests
Frontometaphyseal dysplasia 112 tests
Frontonasal dysplasia with alopecia and genital anomaly3 tests
Frontorhiny3 tests
Frontotemporal dementia4 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 24 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 73 tests
Fructose-biphosphatase deficiency2 tests
Fucosidosis1 test
Fuhrmann syndrome1 test
Fumarase deficiency8 tests
Gabriele de Vries syndrome1 test
Galactosylceramide beta-galactosidase deficiency4 tests
Gallbladder disease 45 tests
Galloway-Mowat syndrome 12 tests
Gamma-aminobutyric acid transaminase deficiency3 tests
GAPO syndrome1 test
Gastric cancer16 tests
Gastrointestinal stromal tumor6 tests
Gaucher disease due to saposin C deficiency3 tests
Gaucher disease perinatal lethal2 tests
Gaucher disease type I2 tests
Gaucher disease type II2 tests
Gaucher disease type III2 tests
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome2 tests
Gaze palsy, familial horizontal, with progressive scoliosis 11 test
Geleophysic dysplasia 13 tests
Geleophysic dysplasia 27 tests
Generalized dominant dystrophic epidermolysis bullosa2 tests
Generalized epilepsy with febrile seizures plus, type 16 tests
Generalized epilepsy with febrile seizures plus, type 25 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy with febrile seizures plus, type 92 tests
Generalized juvenile polyposis/juvenile polyposis coli11 tests
Genitopatellar syndrome3 tests
Germ cell tumor of testis19 tests
Geroderma osteodysplastica2 tests
Gerstmann-Straussler-Scheinker syndrome4 tests
Gilbert syndrome2 tests
Gillespie syndrome2 tests
Gillessen-Kaesbach-Nishimura syndrome1 test
Glanzmann thrombasthenia 13 tests
Glaucoma 1, open angle, A1 test
Glaucoma 1, open angle, G1 test
Glaucoma 3, primary congenital, D4 tests
Glaucoma 3, primary congenital, E2 tests
Glaucoma 3A1 test
Glaucoma, normal tension, susceptibility to11 tests
Glioma susceptibility 116 tests
Glioma susceptibility 213 tests
Glioma susceptibility 312 tests
Glioma susceptibility 91 test
Glomerulopathy with fibronectin deposits 21 test
Glomuvenous malformation1 test
Glucocorticoid deficiency 11 test
Glucocorticoid deficiency 21 test
Glucocorticoid deficiency 41 test
Glucocorticoid resistance1 test
Glucocorticoid-remediable aldosteronism2 tests
Glucose-6-phosphate transport defect5 tests
Glutaric aciduria, type 14 tests
Glutaryl-CoA oxidase deficiency2 tests
Glutathione synthetase deficiency with 5-oxoprolinuria2 tests
Glutathione synthetase deficiency without 5-oxoprolinuria2 tests
Glycine N-methyltransferase deficiency1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency5 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency5 tests
Glycogen storage disease due to muscle beta-enolase deficiency5 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency9 tests
Glycogen storage disease IXa15 tests
Glycogen storage disease IXb5 tests
Glycogen storage disease IXc5 tests
Glycogen storage disease IXd5 tests
Glycogen storage disease type III5 tests
Glycogen storage disease type X5 tests
Glycogen storage disease XV5 tests
Glycogen storage disease, type II6 tests
Glycogen storage disease, type IV8 tests
Glycogen storage disease, type V6 tests
Glycogen storage disease, type VI4 tests
Glycogen storage disease, type VII5 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency3 tests
GM1 gangliosidosis type 23 tests
GM1 gangliosidosis type 33 tests
GM3 synthase deficiency2 tests
Gnathodiaphyseal dysplasia3 tests
GNE myopathy4 tests
GNPTG-mucolipidosis3 tests
Goldberg-Shprintzen syndrome2 tests
Gonadotropin-independent familial sexual precocity3 tests
Gordon syndrome1 test
Gorlin syndrome3 tests
GRACILE syndrome4 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31 test
Granulomatous disease, chronic, X-linked1 test
Gray platelet syndrome3 tests
Grebe syndrome6 tests
Greenberg dysplasia3 tests
Greig cephalopolysyndactyly syndrome6 tests
Griscelli syndrome type 12 tests
Griscelli syndrome type 22 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions4 tests
Groenouw corneal dystrophy type I2 tests
GTP cyclohydrolase I deficiency6 tests
Guttmacher syndrome1 test
H syndrome1 test
Haim-Munk syndrome4 tests
Hair morphology 11 test
Hajdu-Cheney syndrome4 tests
Hamartoma of hypothalamus6 tests
Hand-foot-genital syndrome1 test
Harel-Yoon syndrome1 test
Hartsfield-Bixler-Demyer syndrome6 tests
Hawkinsinuria1 test
Hearing loss, autosomal dominant 731 test
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1071 test
Hearing loss, X-linked 16 tests
Hearing loss, X-linked 42 tests
Hearing loss, X-linked 62 tests
Heart defect - tongue hamartoma - polysyndactyly syndrome6 tests
Heart-hand syndrome, Slovenian type11 tests
Hecht syndrome2 tests
Heimler syndrome 16 tests
Heimler syndrome 24 tests
Helicoid peripapillary chorioretinal degeneration1 test
Hemochromatosis type 13 tests
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemolytic anemia due to hexokinase deficiency2 tests
Hemolytic uremic syndrome, atypical, susceptibility to, 13 tests
Hemorrhage, intracerebral, susceptibility to9 tests
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hennekam lymphangiectasia-lymphedema syndrome 22 tests
Hepatic adenomas, familial4 tests
Hepatocellular carcinoma25 tests
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 14 tests
Hereditary acrodermatitis enteropathica1 test
Hereditary angioedema type 11 test
Hereditary angioedema type 32 tests
Hereditary antithrombin deficiency1 test
Hereditary cerebral amyloid angiopathy, Icelandic type1 test
Hereditary coproporphyria1 test
Hereditary cryohydrocytosis with reduced stomatin10 tests
Hereditary diffuse gastric adenocarcinoma9 tests
Hereditary diffuse leukoencephalopathy with spheroids3 tests
Hereditary factor IX deficiency disease2 tests
Hereditary factor VIII deficiency disease2 tests
Hereditary factor X deficiency disease3 tests
Hereditary factor XI deficiency disease2 tests
Hereditary fructosuria3 tests
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary intrinsic factor deficiency1 test
Hereditary leiomyomatosis and renal cell cancer8 tests
Hereditary lymphedema type I1 test
Hereditary motor and sensory neuropathy with optic atrophy5 tests
Hereditary myopathy with lactic acidosis due to ISCU deficiency2 tests
Hereditary pancreatitis8 tests
Hereditary sensory and autonomic neuropathy type 62 tests
Hereditary sensory neuropathy-deafness-dementia syndrome2 tests
Hereditary spastic paraplegia 102 tests
Hereditary spastic paraplegia 112 tests
Hereditary spastic paraplegia 134 tests
Hereditary spastic paraplegia 155 tests
Hereditary spastic paraplegia 177 tests
Hereditary spastic paraplegia 25 tests
Hereditary spastic paraplegia 231 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 281 test
Hereditary spastic paraplegia 303 tests
Hereditary spastic paraplegia 313 tests
Hereditary spastic paraplegia 356 tests
Hereditary spastic paraplegia 396 tests
Hereditary spastic paraplegia 3A2 tests
Hereditary spastic paraplegia 42 tests
Hereditary spastic paraplegia 422 tests
Hereditary spastic paraplegia 431 test
Hereditary spastic paraplegia 444 tests
Hereditary spastic paraplegia 463 tests
Hereditary spastic paraplegia 473 tests
Hereditary spastic paraplegia 503 tests
Hereditary spastic paraplegia 513 tests
Hereditary spastic paraplegia 541 test
Hereditary spastic paraplegia 554 tests
Hereditary spastic paraplegia 563 tests
Hereditary spastic paraplegia 5A2 tests
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 631 test
Hereditary spastic paraplegia 77 tests
Hereditary spastic paraplegia 743 tests
Hereditary spastic paraplegia 775 tests
Hereditary spastic paraplegia 83 tests
Hereditary spastic paraplegia 9A6 tests
Hereditary spherocytosis type 42 tests
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX16 tests
Hereditary xanthinuria type 11 test
Hermansky-Pudlak syndrome 15 tests
Hermansky-Pudlak syndrome 23 tests
Hermansky-Pudlak syndrome 33 tests
Hermansky-Pudlak syndrome 45 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-linked3 tests
Heterotaxy, visceral, 4, autosomal3 tests
Heterotaxy, visceral, 5, autosomal4 tests
Heterotaxy, visceral, 7, autosomal1 test
Heterotaxy, visceral, 8, autosomal1 test
Heterotopia, periventricular, X-linked dominant12 tests
Hidrotic ectodermal dysplasia syndrome5 tests
High density lipoprotein cholesterol level quantitative trait locus 121 test
High density lipoprotein cholesterol level quantitative trait locus 61 test
High myopia-sensorineural deafness syndrome1 test
Hirschsprung disease, susceptibility to, 110 tests
Hirschsprung disease, susceptibility to, 21 test
Hirschsprung disease, susceptibility to, 42 tests
HNSHA due to aldolase A deficiency4 tests
Holocarboxylase synthetase deficiency1 test
Holoprosencephaly 111 test
Holoprosencephaly 21 test
Holoprosencephaly 31 test
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly 73 tests
Holoprosencephaly 93 tests
Holt-Oram syndrome5 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency5 tests
HSD10 mitochondrial disease3 tests
Human HOXA1 syndromes1 test
Huntington disease2 tests
Huntington disease-like 14 tests
Huppke-Brendel syndrome2 tests
Hurler syndrome1 test
Hutchinson-Gilford syndrome11 tests
Hyaline fibromatosis syndrome1 test
Hydrocephalus, nonsyndromic, autosomal recessive 12 tests
Hydrocephalus, nonsyndromic, autosomal recessive 22 tests
Hydrolethalus syndrome 12 tests
Hydrolethalus syndrome 28 tests
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2 tests
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyperaldosteronism, familial, type IV2 tests
Hyperalphalipoproteinemia 11 test
Hyperammonemia, type III1 test
Hypercalcemia, infantile, 11 test
Hypercalcemia, infantile, 22 tests
Hypercholanemia, familial2 tests
Hypercholanemia, familial 12 tests
Hypercholesterolemia, autosomal dominant, 35 tests
Hypercholesterolemia, autosomal dominant, type B5 tests
Hypercholesterolemia, familial, 16 tests
Hypercholesterolemia, familial, 44 tests
Hyperekplexia 12 tests
Hyperekplexia 21 test
Hyperekplexia 32 tests
Hyperimmunoglobulin D with periodic fever2 tests
Hyperinsulinemic hypoglycemia, familial, 14 tests
Hyperinsulinemic hypoglycemia, familial, 24 tests
Hyperinsulinemic hypoglycemia, familial, 43 tests
Hyperinsulinism due to glucokinase deficiency4 tests
Hyperinsulinism due to INSR deficiency3 tests
Hyperinsulinism-hyperammonemia syndrome4 tests
Hyperkalemic periodic paralysis5 tests
Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
Hyperlipidemia, familial combined, LPL related2 tests
Hyperlipoproteinemia, type 1D3 tests
Hyperlipoproteinemia, type I2 tests
Hyperlysinemia1 test
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase2 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome5 tests
Hyperparathyroidism 15 tests
Hyperparathyroidism 2 with jaw tumors5 tests
Hyperparathyroidism 41 test
Hyperphosphatasemia tarda2 tests
Hyperphosphatasemia with bone disease3 tests
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hyperpigmentation with or without hypopigmentation, familial progressive1 test
Hyperproinsulinemia3 tests
Hyperthyroxinemia, dystransthyretinemic1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertriglyceridemia 13 tests
Hypertrophic cardiomyopathy 18 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 112 tests
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 252 tests
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 41 test
Hypertrophic cardiomyopathy 64 tests
Hypertrophic cardiomyopathy 72 tests
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 93 tests
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
Hypoalphalipoproteinemia, primary, 14 tests
Hypochondroplasia8 tests
Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
Hypogonadotropic hypogonadism 18 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia6 tests
Hypogonadotropic hypogonadism 24 without anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia2 tests
Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
Hypogonadotropic hypogonadism 5 with or without anosmia5 tests
Hypogonadotropic hypogonadism 6 with or without anosmia3 tests
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypoinsulinemic hypoglycemia and body hemihypertrophy2 tests
Hypokalemic periodic paralysis, type 12 tests
Hypokalemic periodic paralysis, type 25 tests
Hypomagnesemia, seizures, and intellectual disability 11 test
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism2 tests
Hypomyelinating leukodystrophy 102 tests
Hypomyelinating leukodystrophy 112 tests
Hypomyelinating leukodystrophy 24 tests
Hypomyelinating leukodystrophy 32 tests
Hypomyelinating leukodystrophy 44 tests
Hypomyelinating leukodystrophy 63 tests
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2 tests
Hypomyelinating leukodystrophy 93 tests
Hypomyelination and Congenital Cataract3 tests
Hypomyelination with brain stem and spinal cord involvement and leg spasticity3 tests
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypoparathyroidism, familial isolated 11 test
Hypoparathyroidism-retardation-dysmorphism syndrome3 tests
Hypophosphatemic nephrolithiasis/osteoporosis 12 tests
Hypophosphatemic nephrolithiasis/osteoporosis 21 test
Hypophosphatemic rickets, autosomal recessive, 12 tests
Hypophosphatemic rickets, autosomal recessive, 26 tests
Hypophosphatemic rickets, X-linked recessive5 tests
Hypopigmentation-punctate palmoplantar keratoderma syndrome6 tests
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoplastic left heart syndrome 14 tests
Hypoplastic left heart syndrome 23 tests
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome4 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration2 tests
Hypoproteinemia, hypercatabolic1 test
Hypospadias 1, X-linked2 tests
Hypospadias 2, X-linked1 test
Hypothyroidism due to TSH receptor mutations1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Hypothyroidism, congenital, nongoitrous, 53 tests
Hypotonia, ataxia, and delayed development syndrome1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
Hypotrichosis 22 tests
Hypotrichosis 41 test
Hypotrichosis 61 test
Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome2 tests
Hypouricemia, renal, 21 test
Ichthyosis bullosa of Siemens2 tests
Ichthyosis hystrix of Curth-Macklin4 tests
Ichthyosis prematurity syndrome2 tests
Ichthyosis vulgaris2 tests
Ichthyosis, hystrix-like, with hearing loss6 tests
Idiopathic basal ganglia calcification 13 tests
IFAP syndrome 1, with or without BRESHECK syndrome4 tests
IMAGe syndrome8 tests
Imerslund-Grasbeck syndrome type 11 test
Immunodeficiency 232 tests
Immunodeficiency 282 tests
Immunodeficiency due to ficolin3 deficiency1 test
Immunodeficiency due to MASP-2 deficiency1 test
Immunodeficiency, common variable, 71 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis3 tests
Inborn glycerol kinase deficiency1 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 12 tests
Infantile cerebellar-retinal degeneration6 tests
Infantile convulsions and choreoathetosis7 tests
Infantile cortical hyperostosis8 tests
Infantile GM1 gangliosidosis3 tests
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency3 tests
Infantile hypophosphatasia8 tests
Infantile liver failure syndrome 21 test
Infantile nephronophthisis7 tests
Infantile neuroaxonal dystrophy1 test
Infantile onset spinocerebellar ataxia4 tests
Infantile-onset ascending hereditary spastic paralysis2 tests
Infantile-onset generalized dyskinesia with orofacial involvement1 test
Infantile-onset X-linked spinal muscular atrophy2 tests
Inflammatory bowel disease 11 test
Inflammatory bowel disease 131 test
Inflammatory skin and bowel disease, neonatal, 21 test
Inherited Creutzfeldt-Jakob disease4 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
Insulin-resistant diabetes mellitus AND acanthosis nigricans3 tests
Intellectual developmental disorder with autism and macrocephaly1 test
Intellectual developmental disorder, autosomal recessive 742 tests
Intellectual disability, autosomal dominant 14 tests
Intellectual disability, autosomal dominant 134 tests
Intellectual disability, autosomal dominant 153 tests
Intellectual disability, autosomal dominant 162 tests
Intellectual disability, autosomal dominant 205 tests
Intellectual disability, autosomal dominant 221 test
Intellectual disability, autosomal dominant 241 test
Intellectual disability, autosomal dominant 341 test
Intellectual disability, autosomal dominant 383 tests
Intellectual disability, autosomal dominant 411 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 53 tests
Intellectual disability, autosomal dominant 63 tests
Intellectual disability, autosomal dominant 82 tests
Intellectual disability, autosomal dominant 93 tests
Intellectual disability, autosomal recessive 122 tests
Intellectual disability, autosomal recessive 32 tests
Intellectual disability, autosomal recessive 52 tests
Intellectual disability, autosomal recessive 61 test
Intellectual disability, autosomal recessive 71 test
Intellectual disability, X-linked 14 tests
Intellectual disability, X-linked 1021 test
Intellectual disability, X-linked 193 tests
Intellectual disability, X-linked 211 test
Intellectual disability, X-linked 301 test
Intellectual disability, X-linked 411 test
Intellectual disability, X-linked 461 test
Intellectual disability, X-linked 493 tests
Intellectual disability, X-linked 581 test
Intellectual disability, X-linked 631 test
Intellectual disability, X-linked 723 tests
Intellectual disability, X-linked 91 test
Intellectual disability, X-linked 901 test
Intellectual disability, X-linked 932 tests
Intellectual disability, X-linked 961 test
Intellectual disability, X-linked 971 test
Intellectual disability, X-linked 992 tests
Intellectual disability, X-linked 99, syndromic, female-restricted2 tests
Intellectual disability, X-linked syndromic, Turner type2 tests
Intellectual disability, X-linked, syndromic 332 tests
Intellectual disability, X-linked, syndromic, 352 tests
Intellectual disability, X-linked, with or without seizures, arx-related7 tests
Intellectual disability, X-linked, with panhypopituitarism1 test
Intellectual disability-epilepsy-extrapyramidal syndrome1 test
Intellectual disability-hypotonic facies syndrome, X-linked, 13 tests
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1 test
Intellectual disability-severe speech delay-mild dysmorphism syndrome1 test
Interstitial lung disease 22 tests
Interstitial lung disease due to ABCA3 deficiency4 tests
Intervertebral disc disorder10 tests
Intestinal hypomagnesemia 11 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked12 tests
Iodotyrosyl coupling defect1 test
Irido-corneo-trabecular dysgenesis6 tests
Ischemic stroke2 tests
Isolated congenital megalocornea1 test
Isolated focal cortical dysplasia type II13 tests
Isolated focal non-epidermolytic palmoplantar keratoderma2 tests
Isolated lutropin deficiency1 test
Isolated microphthalmia 22 tests
Isolated microphthalmia 52 tests
Isolated neonatal sclerosing cholangitis5 tests
Isolated optic nerve hypoplasia6 tests
Isolated thyroid-stimulating hormone deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency2 tests
Jackson-Weiss syndrome6 tests
Jalili syndrome3 tests
Jawad syndrome2 tests
Jervell and Lange-Nielsen syndrome 17 tests
Jervell and Lange-Nielsen syndrome 23 tests
Johanson-Blizzard syndrome2 tests
Joubert syndrome 17 tests
Joubert syndrome 1013 tests
Joubert syndrome 136 tests
Joubert syndrome 146 tests
Joubert syndrome 157 tests
Joubert syndrome 166 tests
Joubert syndrome 187 tests
Joubert syndrome 28 tests
Joubert syndrome 207 tests
Joubert syndrome 216 tests
Joubert syndrome 223 tests
Joubert syndrome 233 tests
Joubert syndrome 247 tests
Joubert syndrome 253 tests
Joubert syndrome 262 tests
Joubert syndrome 275 tests
Joubert syndrome 2811 tests
Joubert syndrome 37 tests
Joubert syndrome 303 tests
Joubert syndrome 512 tests
Joubert syndrome 69 tests
Joubert syndrome 78 tests
Joubert syndrome 86 tests
Joubert syndrome 97 tests
Joubert syndrome with renal defect9 tests
Junctional epidermolysis bullosa gravis of Herlitz3 tests
Junctional epidermolysis bullosa with pyloric atresia2 tests
Junctional epidermolysis bullosa, non-Herlitz type4 tests
Juvenile cataract-microcornea-renal glucosuria syndrome1 test
Juvenile myelomonocytic leukemia15 tests
Juvenile nephropathic cystinosis1 test
Juvenile onset Parkinson disease 19A1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome11 tests
Juvenile primary lateral sclerosis2 tests
Juvenile retinoschisis5 tests
Kabuki syndrome 12 tests
Kabuki syndrome 22 tests
Kahrizi syndrome1 test
Kartagener syndrome6 tests
Karyomegalic interstitial nephritis1 test
Kennedy disease2 tests
Keratosis follicularis spinulosa decalvans, X-linked4 tests
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
Keratosis palmoplantaris striata 26 tests
Keratosis palmoplantaris striata 34 tests
Ketoacidosis due to monocarboxylate transporter-1 deficiency2 tests
Keutel syndrome1 test
Kindler syndrome2 tests
Kleefstra syndrome 11 test
Kniest dysplasia12 tests
Knobloch syndrome4 tests
Knuckle pads, deafness AND leukonychia syndrome6 tests
Koolen-de Vries syndrome1 test
Kostmann syndrome2 tests
Krabbe disease due to saposin A deficiency3 tests
Kufor-Rakeb syndrome4 tests
Kugelberg-Welander disease1 test
Kuru, susceptibility to4 tests
L-2-hydroxyglutaric aciduria6 tests
L-ferritin deficiency1 test
Lafora disease4 tests
LAMB2-related infantile-onset nephrotic syndrome2 tests
Landau-Kleffner syndrome4 tests
Langer mesomelic dysplasia syndrome2 tests
Langereis blood group1 test
Large congenital melanocytic nevus10 tests
Laron-type isolated somatotropin defect1 test
Larsen syndrome4 tests
Larsen-like syndrome, B3GAT3 type2 tests
Laryngo-onycho-cutaneous syndrome2 tests
Late-onset retinal degeneration3 tests
Lateral meningocele syndrome4 tests
Lattice corneal dystrophy Type I2 tests
Lattice corneal dystrophy Type III2 tests
Laurence-Moon syndrome6 tests
Leber congenital amaurosis 14 tests
Leber congenital amaurosis 1012 tests
Leber congenital amaurosis 113 tests
Leber congenital amaurosis 122 tests
Leber congenital amaurosis 134 tests
Leber congenital amaurosis 143 tests
Leber congenital amaurosis 153 tests
Leber congenital amaurosis 163 tests
Leber congenital amaurosis 24 tests
Leber congenital amaurosis 33 tests
Leber congenital amaurosis 44 tests
Leber congenital amaurosis 53 tests
Leber congenital amaurosis 64 tests
Leber congenital amaurosis 75 tests
Leber congenital amaurosis 85 tests
Leber congenital amaurosis 93 tests
Left ventricular noncompaction 101 test
Legg-Calve-Perthes disease12 tests
Legius syndrome2 tests
Leigh syndrome12 tests
Lenz-Majewski hyperostosis syndrome3 tests
LEOPARD syndrome 16 tests
LEOPARD syndrome 23 tests
LEOPARD syndrome 35 tests
Leprechaunism syndrome3 tests
Leprosy, susceptibility to, 21 test
Leri-Weill dyschondrosteosis2 tests
Lesch-Nyhan syndrome2 tests
Lethal acantholytic epidermolysis bullosa6 tests
Lethal arthrogryposis-anterior horn cell disease syndrome2 tests
Lethal congenital contracture syndrome 12 tests
Lethal congenital contracture syndrome 21 test
Lethal congenital contracture syndrome 42 tests
Lethal congenital contracture syndrome 61 test
Lethal congenital contracture syndrome 71 test
Lethal congenital contracture syndrome 91 test
Lethal congenital glycogen storage disease of heart4 tests
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome2 tests
Lethal Kniest-like syndrome4 tests
Lethal multiple pterygium syndrome5 tests
Lethal osteosclerotic bone dysplasia2 tests
Lethal tight skin contracture syndrome11 tests
Leucine-induced hypoglycemia4 tests
Leukemia, acute lymphoblastic, susceptibility to, 33 tests
Leukocyte adhesion deficiency type II1 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
Leukoencephalopathy with calcifications and cysts2 tests
Leukoencephalopathy with mild cerebellar ataxia and white matter edema5 tests
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome2 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3 tests
Levy-Hollister syndrome9 tests
Lewy body dementia6 tests
Leydig cell agenesis3 tests
Li-Fraumeni syndrome 114 tests
Li-Fraumeni syndrome 24 tests
Liddle syndrome 14 tests
Limb-mammary syndrome4 tests
Linear nevus sebaceous syndrome10 tests
Linear skin defects with multiple congenital anomalies 11 test
Lipase deficiency, combined3 tests
LIPE-related familial partial lipodystrophy1 test
Lipid proteinosis1 test
Lipoic acid synthetase deficiency1 test
Lipoprotein glomerulopathy6 tests
Lipoyl transferase 1 deficiency2 tests
Lissencephaly 43 tests
Lissencephaly 6 with microcephaly3 tests
Lissencephaly due to LIS1 mutation4 tests
Lissencephaly due to TUBA1A mutation4 tests
Lissencephaly type 1 due to doublecortin gene mutation6 tests
Loeys-Dietz syndrome 16 tests
Loeys-Dietz syndrome 26 tests
Loeys-Dietz syndrome 43 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency5 tests
Long QT syndrome 17 tests
Long QT syndrome 112 tests
Long QT syndrome 134 tests
Long QT syndrome 143 tests
Long QT syndrome 153 tests
Long QT syndrome 26 tests
Long QT syndrome 35 tests
Long QT syndrome 53 tests
Long QT syndrome 63 tests
Long QT syndrome 97 tests
Lopes-Maciel-Rodan syndrome2 tests
Loricrin keratoderma2 tests
Low phospholipid associated cholelithiasis1 test
Lowe syndrome3 tests
Lower motor neuron syndrome with late-adult onset4 tests
Lucey-Driscoll syndrome2 tests
Lung cancer17 tests
Luscan-Lumish syndrome1 test
Lymphangiomyomatosis12 tests
Lymphatic malformation 34 tests
Lymphatic malformation 61 test
Lymphoma, non-Hodgkin, familial4 tests
Lymphoproliferative syndrome 12 tests
Lynch syndrome 113 tests
Lynch syndrome 413 tests
Lynch syndrome 513 tests
Lynch syndrome 810 tests
Lysinuric protein intolerance3 tests
Lysosomal acid lipase deficiency6 tests
Macrocephaly-autism syndrome13 tests
Macrocephaly-developmental delay syndrome1 test
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss6 tests
Macrothrombocytopenia, isolated, 1, autosomal dominant2 tests
Macular corneal dystrophy1 test
Macular degeneration, age-related, 36 tests
Macular degeneration, early-onset5 tests
Macular degeneration, X-linked atrophic5 tests
Macular dystrophy with central cone involvement5 tests
Malan overgrowth syndrome3 tests
Malaria, susceptibility to3 tests
Malignant hyperthermia, susceptibility to, 14 tests
Malignant hyperthermia, susceptibility to, 52 tests
Malignant tumor of esophagus10 tests
Malignant tumor of prostate23 tests
Malignant tumor of urinary bladder19 tests
Mandibular hypoplasia-deafness-progeroid syndrome1 test
Mandibuloacral dysplasia with type A lipodystrophy11 tests
Mandibuloacral dysplasia with type B lipodystrophy3 tests
Mandibulofacial dysostosis-microcephaly syndrome6 tests
Maple syrup urine disease2 tests
Marden-Walker syndrome1 test
Marfan syndrome7 tests
Marinesco-Sjögren syndrome3 tests
Marshall syndrome10 tests
Marshall-Smith syndrome3 tests
Martsolf syndrome1 test
MASA syndrome4 tests
MASS syndrome7 tests
Mastocytosis2 tests
Maturity-onset diabetes of the young type 15 tests
Maturity-onset diabetes of the young type 103 tests
Maturity-onset diabetes of the young type 113 tests
Maturity-onset diabetes of the young type 134 tests
Maturity-onset diabetes of the young type 24 tests
Maturity-onset diabetes of the young type 34 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 93 tests
McCune-Albright syndrome5 tests
McKusick-Kaufman syndrome7 tests
Meacham syndrome7 tests
Meckel syndrome 134 tests
Meckel syndrome, type 111 tests
Meckel syndrome, type 105 tests
Meckel syndrome, type 117 tests
Meckel syndrome, type 28 tests
Meckel syndrome, type 39 tests
Meckel syndrome, type 412 tests
Meckel syndrome, type 58 tests
Meckel syndrome, type 67 tests
Meckel syndrome, type 87 tests
Meckel syndrome, type 95 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
MEDNIK syndrome1 test
Medulloblastoma16 tests
Meester-Loeys syndrome4 tests
Megaconial type congenital muscular dystrophy1 test
Megalencephalic leukoencephalopathy with subcortical cysts 13 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A4 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability4 tests
Megalencephaly-capillary malformation-polymicrogyria syndrome5 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
MEGF10-related myopathy2 tests
MEGF8-related Carpenter syndrome2 tests
Meier-Gorlin syndrome 13 tests
Meier-Gorlin syndrome 23 tests
Meier-Gorlin syndrome 33 tests
Meier-Gorlin syndrome 43 tests
Meier-Gorlin syndrome 53 tests
Meier-Gorlin syndrome 73 tests
Melanoma and neural system tumor syndrome4 tests
Melanoma, cutaneous malignant, susceptibility to, 113 tests
Melanoma, cutaneous malignant, susceptibility to, 24 tests
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma, cutaneous malignant, susceptibility to, 96 tests
Melanoma-pancreatic cancer syndrome4 tests
Melnick-Needles syndrome12 tests
MEND syndrome4 tests
Menkes kinky-hair syndrome5 tests
Meretoja syndrome2 tests
Merosin deficient congenital muscular dystrophy5 tests
Mesoaxial synostotic syndactyly with phalangeal reduction1 test
Mesothelioma, malignant7 tests
Metabolic myopathy due to lactate transporter defect2 tests
Metabolic syndrome X4 tests
Metachondromatosis6 tests
Metachromatic leukodystrophy3 tests
Metaphyseal anadysplasia 23 tests
Metaphyseal chondrodysplasia, Jansen type4 tests
Metaphyseal chondrodysplasia, McKusick type4 tests
Metaphyseal chondrodysplasia, Schmid type3 tests
Metaphyseal chondrodysplasia, Spahr type3 tests
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome3 tests
Metaphyseal dysplasia without hypotrichosis4 tests
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome3 tests
Metatropic dysplasia6 tests
Methylcobalamin deficiency type cblE2 tests
Methylcobalamin deficiency type cblG2 tests
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
Methylmalonic acidemia due to transcobalamin receptor defect1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic acidemia with homocystinuria, type cblX2 tests
Methylmalonic aciduria and homocystinuria type cblD2 tests
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2 tests
Methylmalonic aciduria, cblA type2 tests
Methylmalonic aciduria, cblB type2 tests
Mevalonic aciduria2 tests
MGAT2-congenital disorder of glycosylation1 test
Microcephalic osteodysplastic primordial dwarfism type II4 tests
Microcephalic primordial dwarfism due to RTTN deficiency3 tests
Microcephalic primordial dwarfism, Alazami type1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 15, primary, autosomal recessive1 test
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations4 tests
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive1 test
Microcephaly 6, primary, autosomal recessive3 tests
Microcephaly 7, primary, autosomal recessive1 test
Microcephaly 9, primary, autosomal recessive3 tests
Microcephaly and chorioretinopathy 11 test
Microcephaly and chorioretinopathy 21 test
Microcephaly and chorioretinopathy 31 test
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability4 tests
Microcephaly, epilepsy, and diabetes syndrome1 test
Microcephaly, normal intelligence and immunodeficiency5 tests
Microcephaly, seizures, and developmental delay5 tests
Microcephaly-capillary malformation syndrome2 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Microcornea-myopic chorioretinal atrophy3 tests
Microphthalmia with brain and digit anomalies3 tests
Microphthalmia, isolated, with coloboma 102 tests
Microphthalmia, isolated, with coloboma 32 tests
Microphthalmia, isolated, with coloboma 51 test
Microphthalmia, isolated, with coloboma 71 test
Microspherophakia4 tests
Microvascular complications of diabetes, susceptibility to, 31 test
Microvascular complications of diabetes, susceptibility to, 72 tests
Migraine, familial hemiplegic, 15 tests
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 35 tests
Migraine, with or without aura, susceptibility to, 131 test
Miller syndrome4 tests
MIRAGE syndrome1 test
Mismatch repair cancer syndrome 113 tests
Mitochondrial complex I deficiency, nuclear type 111 tests
Mitochondrial complex II deficiency, nuclear type 18 tests
Mitochondrial complex III deficiency nuclear type 14 tests
Mitochondrial complex III deficiency nuclear type 26 tests
Mitochondrial complex III deficiency nuclear type 41 test
Mitochondrial complex III deficiency nuclear type 83 tests
Mitochondrial complex IV deficiency, nuclear type 16 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 22 tests
Mitochondrial DNA depletion syndrome 14 tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant3 tests
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive3 tests
Mitochondrial DNA depletion syndrome 134 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)10 tests
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 4b15 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 8a3 tests
Mitochondrial DNA depletion syndrome 94 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria4 tests
Mitochondrial DNA depletion syndrome, myopathic form5 tests
Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency4 tests
Mitochondrial trifunctional protein deficiency5 tests
Miyoshi muscular dystrophy 13 tests
Miyoshi muscular dystrophy 33 tests
MOGS-congenital disorder of glycosylation1 test
Monocytopenia with susceptibility to infections5 tests
MORM syndrome7 tests
Mosaic variegated aneuploidy syndrome 12 tests
Mowat-Wilson syndrome5 tests
Moyamoya disease 53 tests
MPDU1-congenital disorder of glycosylation1 test
MPI-congenital disorder of glycosylation2 tests
Mucolipidosis type II1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis type 71 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Mucopolysaccharidosis, MPS-II2 tests
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C3 tests
Mucopolysaccharidosis, MPS-III-D1 test
Mucopolysaccharidosis, MPS-IV-A1 test
Mucopolysaccharidosis, MPS-IV-B3 tests
Muenke syndrome8 tests
Muir-Torré syndrome13 tests
Mulibrey nanism syndrome2 tests
Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
Multiple acyl-CoA dehydrogenase deficiency9 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 24 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple congenital exostosis3 tests
Multiple cutaneous and mucosal venous malformations2 tests
Multiple endocrine neoplasia type 43 tests
Multiple endocrine neoplasia, type 16 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA10 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB10 tests
Multiple epiphyseal dysplasia type 11 test
Multiple epiphyseal dysplasia type 42 tests
Multiple epiphyseal dysplasia type 52 tests
Multiple epiphyseal dysplasia, Al-Gazali type8 tests
Multiple epiphyseal dysplasia, Beighton type12 tests
Multiple gastrointestinal atresias1 test
Multiple mitochondrial dysfunctions syndrome 14 tests
Multiple mitochondrial dysfunctions syndrome 21 test
Multiple mitochondrial dysfunctions syndrome 33 tests
Multiple myeloma1 test
Multiple sclerosis, susceptibility to, 51 test
Multiple self-healing squamous epithelioma6 tests
Multiple sulfatase deficiency4 tests
Multiple synostoses syndrome 26 tests
Multiple system atrophy5 tests
Multisystemic smooth muscle dysfunction syndrome3 tests
Muscle AMP deaminase deficiency3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 113 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 47 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 73 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 84 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A16 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A143 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A54 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A63 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B16 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B143 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B47 tests
Muscular dystrophy-dystroglycanopathy type B54 tests
Muscular dystrophy-dystroglycanopathy type B63 tests
Mutilating keratoderma6 tests
Myasthenic syndrome, congenital, 1B, fast-channel5 tests
Mycobacterium tuberculosis, susceptibility to1 test
Myelodysplastic syndrome6 tests
Myeloperoxidase deficiency2 tests
Myeloproliferative disorder, chronic, with eosinophilia2 tests
MYH7-related skeletal myopathy3 tests
Myhre syndrome11 tests
Myocardial infarction 14 tests
Myoclonic dystonia 112 tests
Myoclonic epilepsy, juvenile, susceptibility to, 12 tests
Myoclonic-astatic epilepsy2 tests
Myoclonus, familial, 12 tests
Myoclonus, intractable, neonatal2 tests
Myofibrillar myopathy 23 tests
Myofibrillar myopathy 34 tests
Myofibrillar myopathy 43 tests
Myofibrillar myopathy 61 test
Myofibromatosis, infantile, 12 tests
Myofibromatosis, infantile, 24 tests
Myoglobinuria, acute recurrent, autosomal recessive3 tests
Myopathy due to calsequestrin and SERCA1 protein overload1 test
Myopathy with abnormal lipid metabolism4 tests
Myopathy, centronuclear, 21 test
Myopathy, centronuclear, 52 tests
Myopathy, distal, with rimmed vacuoles1 test
Myopathy, lactic acidosis, and sideroblastic anemia 11 test
Myopathy, lactic acidosis, and sideroblastic anemia 21 test
Myopathy, myofibrillar, 9, with early respiratory failure3 tests
Myopathy, myosin storage, autosomal recessive3 tests
Myopathy, proximal, and ophthalmoplegia1 test
Myopathy, reducing body, X-linked, childhood-onset2 tests
Myopathy, reducing body, X-linked, early-onset, severe2 tests
Myopathy, tubular aggregate, 11 test
Myopia 63 tests
Myopia, high, with cataract and vitreoretinal degeneration3 tests
Myosclerosis3 tests
Myosin storage myopathy3 tests
Naegeli-Franceschetti-Jadassohn syndrome3 tests
Nager syndrome4 tests
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome2 tests
Nail-patella syndrome3 tests
Namaqualand hip dysplasia12 tests
Nance-Horan syndrome2 tests
Nanophthalmos 22 tests
Nasopharyngeal carcinoma19 tests
Naxos disease4 tests
NDE1-related microhydranencephaly3 tests
Nemaline myopathy 101 test
Nemaline myopathy 22 tests
Nemaline myopathy 52 tests
Nemaline myopathy 61 test
Nemaline myopathy 72 tests
Nemaline myopathy 83 tests
Nemaline myopathy 91 test
Neonatal diabetes mellitus with congenital hypothyroidism2 tests
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
Neonatal intrahepatic cholestasis due to citrin deficiency2 tests
Neonatal severe primary hyperparathyroidism7 tests
Neonatal-onset encephalopathy with rigidity and seizures3 tests
Neoplasm of ovary14 tests
Nephrogenic syndrome of inappropriate antidiuresis1 test
Nephrolithiasis, calcium oxalate1 test
Nephronophthisis 19 tests
Nephronophthisis 119 tests
Nephronophthisis 129 tests
Nephronophthisis 1310 tests
Nephronophthisis 147 tests
Nephronophthisis 155 tests
Nephronophthisis 164 tests
Nephronophthisis 182 tests
Nephronophthisis 195 tests
Nephronophthisis 202 tests
Nephronophthisis 38 tests
Nephronophthisis 46 tests
Nephronophthisis 73 tests
Nephronophthisis 93 tests
Nephropathic cystinosis1 test
Nephrotic syndrome 141 test
Nephrotic syndrome 152 tests
Nephrotic syndrome, type 101 test
Nephrotic syndrome, type 111 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 47 tests
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 91 test
Netherton syndrome1 test
Neu-Laxova syndrome 12 tests
Neural tube defects, folate-sensitive5 tests
Neuroblastoma, susceptibility to, 12 tests
Neuroblastoma, susceptibility to, 23 tests
Neuroblastoma, susceptibility to, 31 test
Neurocutaneous melanocytosis6 tests
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
Neurodegeneration with brain iron accumulation 2B1 test
Neurodegeneration with brain iron accumulation 41 test
Neurodegeneration with brain iron accumulation 53 tests
Neurodegeneration with brain iron accumulation 63 tests
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination2 tests
Neurodevelopmental disorder with hypotonia, seizures, and absent language2 tests
Neurodevelopmental disorder with involuntary movements2 tests
Neuroferritinopathy1 test
Neurofibromatosis, familial spinal14 tests
Neurofibromatosis, type 114 tests
Neurofibromatosis, type 24 tests
Neurofibromatosis-Noonan syndrome14 tests
Neurogenic scapuloperoneal syndrome, Kaeser type3 tests
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis 13 tests
Neuronal ceroid lipofuscinosis 103 tests
Neuronal ceroid lipofuscinosis 114 tests
Neuronal ceroid lipofuscinosis 132 tests
Neuronal ceroid lipofuscinosis 25 tests
Neuronal ceroid lipofuscinosis 36 tests
Neuronal ceroid lipofuscinosis 55 tests
Neuronal ceroid lipofuscinosis 75 tests
Neuronal ceroid lipofuscinosis 83 tests
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant3 tests
Neuronopathy, distal hereditary motor, autosomal dominant 86 tests
Neuronopathy, distal hereditary motor, autosomal recessive 41 test
Neuronopathy, distal hereditary motor, autosomal recessive 52 tests
Neuronopathy, distal hereditary motor, type 2A2 tests
Neuronopathy, distal hereditary motor, type 2B2 tests
Neuronopathy, distal hereditary motor, type 2C2 tests
Neuronopathy, distal hereditary motor, type 2D2 tests
Neuronopathy, distal hereditary motor, type 5A7 tests
Neuronopathy, distal hereditary motor, type 5B3 tests
Neuronopathy, distal hereditary motor, type 7A1 test
Neuronopathy, distal hereditary motor, type 7B3 tests
Neuropathy, hereditary motor and sensory, type 6B4 tests
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Neuropathy, hereditary sensory, type 1D2 tests
Neuropathy, hereditary sensory, type 2C3 tests
Neutral lipid storage myopathy4 tests
Neutropenia, severe congenital, 1, autosomal dominant2 tests
Neutropenia, severe congenital, 2, autosomal dominant2 tests
Neutrophil immunodeficiency syndrome2 tests
Newfoundland cone-rod dystrophy5 tests
Niemann-Pick disease, type A5 tests
Niemann-Pick disease, type B5 tests
Niemann-Pick disease, type C15 tests
Niemann-Pick disease, type C25 tests
Non-ketotic hyperglycinemia7 tests
Nonarteritic anterior ischemic optic neuropathy, susceptibility to3 tests
Nonimmune chronic idiopathic neutropenia of adults2 tests
Nonpapillary renal cell carcinoma14 tests
Nonsyndromic congenital nail disorder 82 tests
Noonan syndrome 16 tests
Noonan syndrome 102 tests
Noonan syndrome 34 tests
Noonan syndrome 44 tests
Noonan syndrome 53 tests
Noonan syndrome 66 tests
Noonan syndrome 75 tests
Noonan syndrome 84 tests
Noonan syndrome 93 tests
Noonan syndrome-like disorder with loose anagen hair 12 tests
Noonan syndrome-like disorder with loose anagen hair 22 tests
Norman-Roberts syndrome4 tests
Normophosphatemic familial tumoral calcinosis1 test
Norum disease2 tests
NPHP3-related Meckel-like syndrome8 tests
Nystagmus 1, congenital, X-linked2 tests
Nystagmus 6, congenital, X-linked1 test
Obesity12 tests
OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
Obesity due to congenital leptin deficiency2 tests
Obesity due to leptin receptor gene deficiency1 test
Obesity due to pro-opiomelanocortin deficiency2 tests
Obesity due to prohormone convertase I deficiency1 test
Obesity, hyperphagia, and developmental delay1 test
Occipital pachygyria and polymicrogyria2 tests
Occult macular dystrophy2 tests
Ocular albinism, type I1 test
Ocular albinism, type II3 tests
Ocular cystinosis1 test
Oculoauricular syndrome1 test
Oculodentodigital dysplasia4 tests
Oculodentodigital dysplasia, autosomal recessive4 tests
Oculofaciocardiodental syndrome5 tests
Oculootoradial syndrome4 tests
Oculopharyngeal muscular dystrophy1 test
Oculotrichoanal syndrome3 tests
Odonto-onycho-dermal dysplasia2 tests
Oguchi disease-13 tests
Oguchi disease-21 test
Oligodontia-cancer predisposition syndrome1 test
Olmsted syndrome 12 tests
Olmsted syndrome, X-linked4 tests
Opsismodysplasia4 tests
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures3 tests
Optic atrophy 38 tests
Optic atrophy 96 tests
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy10 tests
Ornithine aminotransferase deficiency3 tests
Ornithine carbamoyltransferase deficiency2 tests
Orofacial cleft 113 tests
Orofacial cleft 51 test
Orofacial cleft 6, susceptibility to4 tests
Orofacial-digital syndrome IV7 tests
Orofaciodigital syndrome 164 tests
Orofaciodigital syndrome I13 tests
Orofaciodigital syndrome type 141 test
Orofaciodigital syndrome V1 test
Orofaciodigital syndrome XV2 tests
Orotic aciduria2 tests
Orthostatic hypotension 11 test
Osteoarthritis susceptibility 22 tests
Osteoarthritis susceptibility 56 tests
Osteochondritis dissecans2 tests
Osteocraniostenosis1 test
Osteodysplastic primordial dwarfism, type 12 tests
Osteofibrous dysplasia4 tests
Osteogenesis imperfecta type 103 tests
Osteogenesis imperfecta type 115 tests
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 133 tests
Osteogenesis imperfecta type 142 tests
Osteogenesis imperfecta type 152 tests
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 64 tests
Osteogenesis imperfecta type 74 tests
Osteogenesis imperfecta type 83 tests
Osteogenesis imperfecta type 94 tests
Osteogenesis imperfecta type I8 tests
Osteogenesis imperfecta type III8 tests
Osteogenesis imperfecta with normal sclerae, dominant form8 tests
Osteogenesis imperfecta, perinatal lethal8 tests
Osteoglophonic dysplasia6 tests
Osteopathia striata with cranial sclerosis1 test
Osteopetrosis with renal tubular acidosis4 tests
Osteoporosis with pseudoglioma8 tests
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO2 tests
Oto-palato-digital syndrome, type I12 tests
Oto-palato-digital syndrome, type II12 tests
Otofaciocervical syndrome 14 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant11 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive11 tests
Ovarian dysgenesis 12 tests
Ovarian dysgenesis 21 test
Ovarian hyperstimulation syndrome2 tests
Pachyonychia congenita 12 tests
Pachyonychia congenita 22 tests
Pachyonychia congenita 32 tests
Pachyonychia congenita 42 tests
Paget disease of bone 2, early-onset3 tests
Paget disease of bone 31 test
Pallister-Hall syndrome6 tests
Palmoplantar keratoderma i, striate, focal, or diffuse2 tests
Palmoplantar keratoderma, Bothnian type1 test
Palmoplantar keratoderma, Nagashima type1 test
Palmoplantar keratoderma, nonepidermolytic, focal 12 tests
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse2 tests
Palmoplantar keratoderma, punctate type 1A2 tests
Palmoplantar keratoderma-deafness syndrome6 tests
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome1 test
Pancreatic agenesis 13 tests
Pancreatic agenesis 24 tests
Pancreatic cancer, susceptibility to, 212 tests
Pancreatic cancer, susceptibility to, 38 tests
Pancreatic cancer, susceptibility to, 48 tests
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome5 tests
Pancytopenia due to IKZF1 mutations2 tests
Pancytopenia-developmental delay syndrome1 test
Panhypopituitarism, X-linked1 test
Papillary renal cell carcinoma type 14 tests
Papillon-Lefèvre syndrome4 tests
Paragangliomas 13 tests
Paragangliomas 23 tests
Paragangliomas 34 tests
Paragangliomas 44 tests
Paragangliomas 54 tests
Paragangliomas with sensorineural hearing loss1 test
Paramyotonia congenita of Von Eulenburg5 tests
Parastremmatic dwarfism6 tests
Parathyroid carcinoma5 tests
Parietal foramina 12 tests
Parietal foramina 23 tests
Parietal foramina with cleidocranial dysplasia2 tests
Parkinson disease 171 test
Parkinson disease, late-onset4 tests
Parkinsonian-pyramidal syndrome1 test
Paroxysmal extreme pain disorder2 tests
Paroxysmal nocturnal hemoglobinuria 14 tests
Paroxysmal nocturnal hemoglobinuria 21 test
Paroxysmal nonkinesigenic dyskinesia 13 tests
Partial androgen insensitivity syndrome2 tests
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome3 tests
Partington syndrome7 tests
Patent ductus arteriosus 21 test
Patterned macular dystrophy 15 tests
Patterned macular dystrophy 23 tests
PCWH syndrome3 tests
Peeling skin syndrome 12 tests
Pelger-Huët anomaly3 tests
Pelizaeus-Merzbacher disease5 tests
Pendred syndrome4 tests
PERCHING syndrome2 tests
Periodontitis, aggressive 14 tests
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive2 tests
Periventricular nodular heterotopia 61 test
Periventricular nodular heterotopia 71 test
Perlman syndrome5 tests
Permanent neonatal diabetes mellitus 15 tests
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome4 tests
Peroxisome biogenesis disorder 10A (Zellweger)3 tests
Peroxisome biogenesis disorder 10B3 tests
Peroxisome biogenesis disorder 11A (Zellweger)3 tests
Peroxisome biogenesis disorder 11B3 tests
Peroxisome biogenesis disorder 12A (Zellweger)3 tests
Peroxisome biogenesis disorder 13A (Zellweger)3 tests
Peroxisome biogenesis disorder 14B2 tests
Peroxisome biogenesis disorder 1A (Zellweger)6 tests
Peroxisome biogenesis disorder 1B6 tests
Peroxisome biogenesis disorder 2A (Zellweger)4 tests
Peroxisome biogenesis disorder 2B4 tests
Peroxisome biogenesis disorder 3A (Zellweger)4 tests
Peroxisome biogenesis disorder 4A (Zellweger)4 tests
Peroxisome biogenesis disorder 4B4 tests
Peroxisome biogenesis disorder 5A (Zellweger)4 tests
Peroxisome biogenesis disorder 5B4 tests
Peroxisome biogenesis disorder 6A (Zellweger)4 tests
Peroxisome biogenesis disorder 6B4 tests
Peroxisome biogenesis disorder 7A (Zellweger)4 tests
Peroxisome biogenesis disorder 7B4 tests
Peroxisome biogenesis disorder 8A (Zellweger)3 tests
Peroxisome biogenesis disorder 8B3 tests
Peroxisome biogenesis disorder 9B9 tests
Peroxisome biogenesis disorder type 3B4 tests
Perrault syndrome 11 test
Perrault syndrome 22 tests
Perrault syndrome 32 tests
Perrault syndrome 42 tests
Perrault syndrome 54 tests
Perry syndrome3 tests
Persistent hyperplastic primary vitreous, autosomal recessive2 tests
Persistent Mullerian duct syndrome1 test
Peters plus syndrome1 test
Pettigrew syndrome1 test
Peutz-Jeghers syndrome9 tests
Pfeiffer syndrome6 tests
PGM1-congenital disorder of glycosylation6 tests
PHARC syndrome4 tests
Phelan-McDermid syndrome1 test
Phenylketonuria2 tests
Pheochromocytoma12 tests
PHGDH deficiency2 tests
Phosphate transport defect5 tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
Phosphoribosylpyrophosphate synthetase superactivity6 tests
Phytanic acid storage disease7 tests
Pick disease4 tests
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome5 tests
Piebaldism2 tests
Pierpont syndrome1 test
Pierson syndrome2 tests
Pigmentary pallidal degeneration2 tests
Pigmentary retinal dystrophy7 tests
Pigmented nodular adrenocortical disease, primary, 15 tests
Pigmented paravenous retinochoroidal atrophy5 tests
Pili torti-deafness syndrome4 tests
Pilomatrixoma6 tests
Pitt-Hopkins syndrome6 tests
Pitt-Hopkins-like syndrome 23 tests
Pituitary adenoma 3, multiple types5 tests
Pituitary adenoma 5, multiple types3 tests
Pituitary hormone deficiency, combined, 12 tests
Pituitary hormone deficiency, combined, 21 test
Pituitary hormone deficiency, combined, 63 tests
Pityriasis rubra pilaris1 test
Plasma fibronectin deficiency1 test
Platelet-type bleeding disorder 152 tests
Platelet-type bleeding disorder 163 tests
Platelet-type bleeding disorder 172 tests
Platelet-type bleeding disorder 192 tests
Platelet-type bleeding disorder 202 tests
Platelet-type bleeding disorder 82 tests
Platelet-type bleeding disorder 91 test
Platyspondylic dysplasia, Torrance type12 tests
PLIN1-related familial partial lipodystrophy2 tests
PMM2-congenital disorder of glycosylation3 tests
Poikiloderma with neutropenia2 tests
Polycystic kidney disease 24 tests
Polycystic kidney disease 3 with or without polycystic liver disease2 tests
Polycystic kidney disease 43 tests
Polycystic kidney disease 51 test
Polycystic kidney disease, adult type3 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 12 tests
Polycystic liver disease 12 tests
Polycystic liver disease 22 tests
Polydactyly, postaxial, type A16 tests
Polyglandular autoimmune syndrome, type 11 test
Polyglucosan body myopathy type 14 tests
Polyglucosan body myopathy type 25 tests
Polymicrogyria, bilateral perisylvian, autosomal recessive2 tests
Polyposis syndrome, hereditary mixed, 23 tests
Polysyndactyly 46 tests
Pontocerebellar hypoplasia type 1A3 tests
Pontocerebellar hypoplasia type 1B4 tests
Pontocerebellar hypoplasia type 2A2 tests
Pontocerebellar hypoplasia type 2B2 tests
Pontocerebellar hypoplasia type 2D2 tests
Pontocerebellar hypoplasia type 42 tests
Pontocerebellar hypoplasia type 52 tests
Pontocerebellar hypoplasia type 62 tests
Pontocerebellar hypoplasia type 91 test
Pontocerebellar hypoplasia, type 1C2 tests
Porencephaly 24 tests
Porokeratosis 3, disseminated superficial actinic type2 tests
Porphobilinogen synthase deficiency1 test
Portal hypertension, noncirrhotic2 tests
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome3 tests
Posterior column ataxia-retinitis pigmentosa syndrome4 tests
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 21 test
Posterior polymorphous corneal dystrophy 31 test
Postmenopausal osteoporosis14 tests
Potassium-aggravated myotonia5 tests
PPARG-related familial partial lipodystrophy5 tests
Precocious puberty, central, 21 test
Pregnancy loss, recurrent, susceptibility to, 12 tests
Pregnancy loss, recurrent, susceptibility to, 22 tests
Premature chromatid separation trait2 tests
Premature ovarian failure 14 tests
Premature ovarian failure 113 tests
Premature ovarian failure 31 test
Premature ovarian failure 51 test
Premature ovarian failure 73 tests
Preterm premature rupture of membranes3 tests
Pretibial dystrophic epidermolysis bullosa2 tests
Primary CD59 deficiency1 test
Primary ciliary dyskinesia 106 tests
Primary ciliary dyskinesia 115 tests
Primary ciliary dyskinesia 125 tests
Primary ciliary dyskinesia 136 tests
Primary ciliary dyskinesia 146 tests
Primary ciliary dyskinesia 156 tests
Primary ciliary dyskinesia 166 tests
Primary ciliary dyskinesia 174 tests
Primary ciliary dyskinesia 183 tests
Primary ciliary dyskinesia 194 tests
Primary ciliary dyskinesia 24 tests
Primary ciliary dyskinesia 204 tests
Primary ciliary dyskinesia 213 tests
Primary ciliary dyskinesia 224 tests
Primary ciliary dyskinesia 234 tests
Primary ciliary dyskinesia 243 tests
Primary ciliary dyskinesia 253 tests
Primary ciliary dyskinesia 273 tests
Primary ciliary dyskinesia 284 tests
Primary ciliary dyskinesia 293 tests
Primary ciliary dyskinesia 36 tests
Primary ciliary dyskinesia 302 tests
Primary ciliary dyskinesia 322 tests
Primary ciliary dyskinesia 332 tests
Primary ciliary dyskinesia 351 test
Primary ciliary dyskinesia 53 tests
Primary ciliary dyskinesia 65 tests
Primary ciliary dyskinesia 76 tests
Primary ciliary dyskinesia 96 tests
Primary coenzyme Q10 deficiency 81 test
Primary erythromelalgia2 tests
Primary failure of tooth eruption4 tests
Primary hyperoxaluria type 32 tests
Primary hyperoxaluria, type I3 tests
Primary hyperoxaluria, type II2 tests
Primary hypomagnesemia2 tests
Primary immunodeficiency syndrome due to p14 deficiency2 tests
Primary intraosseous venous malformation1 test
Primary myelofibrosis3 tests
Primary open angle glaucoma2 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome7 tests
Progressive bulbar palsy of childhood1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 115 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 23 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 34 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 43 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 53 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 115 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 35 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 42 tests
Progressive familial heart block type IB2 tests
Progressive familial heart block, type 1A5 tests
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 21 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome2 tests
Progressive myoclonic epilepsy type 32 tests
Progressive myoclonic epilepsy type 63 tests
Progressive myoclonic epilepsy type 73 tests
Progressive myoclonic epilepsy type 82 tests
Progressive myositis ossificans1 test
Progressive osseous heteroplasia5 tests
Progressive pseudorheumatoid dysplasia2 tests
Progressive retinal dystrophy due to retinol transport defect2 tests
Progressive scapulohumeroperoneal distal myopathy2 tests
Progressive sclerosing poliodystrophy15 tests
Progressive supranuclear palsy-parkinsonism syndrome2 tests
Prolidase deficiency1 test
Proliferative vitreoretinopathy2 tests
Proline dehydrogenase deficiency3 tests
Properdin deficiency, X-linked1 test
Propionic acidemia4 tests
Protein-losing enteropathy1 test
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis5 tests
Proteus syndrome1 test
Protoporphyria, erythropoietic, 11 test
Proximal myopathy with extrapyramidal signs2 tests
Proximal symphalangism 1A3 tests
Pseudo von Willebrand disease3 tests
Pseudo-Hurler polydystrophy1 test
Pseudo-TORCH syndrome 12 tests
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoparathyroidism type 1B5 tests
Pseudohypoparathyroidism type 1C5 tests
Pseudohypoparathyroidism type I A5 tests
Pseudopseudohypoparathyroidism5 tests
Pseudoxanthoma elasticum, forme fruste4 tests
Psoriasis 21 test
Psoriatic arthritis, susceptibility to1 test
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2 tests
PULMONARY ALVEOLAR MICROLITHIASIS2 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 16 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 26 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 35 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 44 tests
Pulmonary hypertension, neonatal, susceptibility to1 test
Pulmonary hypertension, primary, 12 tests
Pulmonary hypertension, primary, 33 tests
Pulmonary hypertension, primary, 41 test
Pulmonary venoocclusive disease 12 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2 tests
PYCR1-related de Barsy syndrome4 tests
Pyknodysostosis3 tests
Pyridoxal phosphate-responsive seizures3 tests
Pyridoxine-dependent epilepsy5 tests
Pyruvate carboxylase deficiency2 tests
Pyruvate dehydrogenase E1-alpha deficiency2 tests
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E3 deficiency2 tests
Pyruvate dehydrogenase E3-binding protein deficiency2 tests
RAB23-related Carpenter syndrome2 tests
Rabson-Mendenhall syndrome3 tests
Radial aplasia-thrombocytopenia syndrome4 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 12 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 22 tests
Rafiq syndrome2 tests
Rapadilino syndrome9 tests
RAPH BLOOD GROUP SYSTEM1 test
Rapp-Hodgkin ectodermal dysplasia syndrome4 tests
Recessive dystrophic epidermolysis bullosa2 tests
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1 test
Recurrent Neisseria infections due to factor D deficiency1 test
Reis-Bucklers' corneal dystrophy2 tests
Renal carnitine transport defect4 tests
Renal coloboma syndrome2 tests
Renal cysts and diabetes syndrome5 tests
Renal hypomagnesemia 21 test
Renal hypomagnesemia 41 test
Renal hypomagnesemia 5 with ocular involvement2 tests
Renal hypomagnesemia 61 test
Renal tubular acidosis with progressive nerve deafness2 tests
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss1 test
Renal tubular acidosis, distal, 4, with hemolytic anemia2 tests
Renal tubular dysgenesis1 test
Renal-hepatic-pancreatic dysplasia 18 tests
Renal-hepatic-pancreatic dysplasia 23 tests
Renpenning syndrome2 tests
Reticular dysgenesis2 tests
Retinal arterial tortuosity8 tests
Retinal cone dystrophy 3A3 tests
Retinal cone dystrophy 43 tests
Retinal dystrophy and obesity2 tests
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies2 tests
Retinal macular dystrophy type 26 tests
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations5 tests
Retinitis pigmentosa 12 tests
Retinitis pigmentosa 103 tests
Retinitis pigmentosa 112 tests
Retinitis pigmentosa 125 tests
Retinitis pigmentosa 132 tests
Retinitis pigmentosa 143 tests
Retinitis pigmentosa 172 tests
Retinitis pigmentosa 182 tests
Retinitis pigmentosa 196 tests
Retinitis pigmentosa 22 tests
Retinitis pigmentosa 204 tests
Retinitis pigmentosa 2313 tests
Retinitis pigmentosa 252 tests
Retinitis pigmentosa 264 tests
Retinitis pigmentosa 272 tests
Retinitis pigmentosa 282 tests
Retinitis pigmentosa 35 tests
Retinitis pigmentosa 312 tests
Retinitis pigmentosa 332 tests
Retinitis pigmentosa 353 tests
Retinitis pigmentosa 362 tests
Retinitis pigmentosa 373 tests
Retinitis pigmentosa 384 tests
Retinitis pigmentosa 392 tests
Retinitis pigmentosa 44 tests
Retinitis pigmentosa 403 tests
Retinitis pigmentosa 416 tests
Retinitis pigmentosa 422 tests
Retinitis pigmentosa 432 tests
Retinitis pigmentosa 442 tests
Retinitis pigmentosa 452 tests
Retinitis pigmentosa 462 tests
Retinitis pigmentosa 473 tests
Retinitis pigmentosa 492 tests
Retinitis pigmentosa 505 tests
Retinitis pigmentosa 518 tests
Retinitis pigmentosa 558 tests
Retinitis pigmentosa 563 tests
Retinitis pigmentosa 572 tests
Retinitis pigmentosa 582 tests
Retinitis pigmentosa 593 tests
Retinitis pigmentosa 602 tests
Retinitis pigmentosa 612 tests
Retinitis pigmentosa 622 tests
Retinitis pigmentosa 662 tests
Retinitis pigmentosa 672 tests
Retinitis pigmentosa 682 tests
Retinitis pigmentosa 692 tests
Retinitis pigmentosa 75 tests
Retinitis pigmentosa 702 tests
Retinitis pigmentosa 717 tests
Retinitis pigmentosa 723 tests
Retinitis pigmentosa 733 tests
Retinitis pigmentosa 748 tests
Retinitis pigmentosa 752 tests
Retinitis pigmentosa 761 test
Retinitis pigmentosa 772 tests
Retinitis pigmentosa 783 tests
Retinitis pigmentosa 792 tests
Retinitis pigmentosa with or without situs inversus2 tests
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness5 tests
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
Retinoblastoma3 tests
Rett syndrome8 tests
Rett syndrome, congenital variant5 tests
Revesz syndrome6 tests
Reynolds syndrome3 tests
RFT1-congenital disorder of glycosylation1 test
Rhabdoid tumor predisposition syndrome 13 tests
Rhabdoid tumor predisposition syndrome 22 tests
Rhabdomyosarcoma, embryonal, 23 tests
Rhizomelic chondrodysplasia punctata type 19 tests
Rhizomelic chondrodysplasia punctata type 23 tests
Rhizomelic chondrodysplasia punctata type 33 tests
Rhizomelic chondrodysplasia punctata type 54 tests
Rienhoff syndrome4 tests
Right atrial isomerism2 tests
RIN2 syndrome1 test
Ring dermoid of cornea3 tests
Rippling muscle disease 27 tests
Ritscher-Schinzel syndrome 13 tests
Roberts-SC phocomelia syndrome5 tests
Robinow-Sorauf syndrome3 tests
Roifman syndrome2 tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked3 tests
Rothmund-Thomson syndrome type 29 tests
Rotor syndrome1 test
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations4 tests
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3 tests
Saccharopinuria1 test
Saethre-Chotzen syndrome4 tests
Saldino-Mainzer syndrome8 tests
Salla disease1 test
Sandhoff disease1 test
Sarcotubular myopathy9 tests
Scalp-ear-nipple syndrome1 test
Scapuloperoneal spinal muscular atrophy6 tests
Schaaf-Yang syndrome1 test
SchC6pf-Schulz-Passarge syndrome2 tests
Schimke immuno-osseous dysplasia3 tests
Schinzel phocomelia syndrome1 test
Schizencephaly2 tests
Schizophrenia6 tests
Schizophrenia 151 test
Schizophrenia 43 tests
Schneckenbecken dysplasia2 tests
Schnyder crystalline corneal dystrophy1 test
Schwannomatosis 15 tests
Schwannomatosis 22 tests
Schwartz-Jampel syndrome3 tests
Schwartz-Jampel syndrome type 11 test
Sclerosteosis 12 tests
Sclerosteosis 21 test
Sea-blue histiocyte syndrome6 tests
Seborrheic keratosis5 tests
Seckel syndrome 16 tests
Seckel syndrome 22 tests
Seckel syndrome 43 tests
Seckel syndrome 53 tests
Seckel syndrome 63 tests
Seizures, benign familial infantile, 27 tests
Seizures, benign familial infantile, 34 tests
Seizures, benign familial infantile, 54 tests
Seizures, benign familial neonatal, 14 tests
Seizures, benign familial neonatal, 23 tests
Seizures-scoliosis-macrocephaly syndrome2 tests
Selective pituitary resistance to thyroid hormone1 test
Sengers syndrome3 tests
Senior-Loken syndrome 19 tests
Senior-Loken syndrome 46 tests
Senior-Loken syndrome 56 tests
Senior-Loken syndrome 612 tests
Senior-Loken syndrome 76 tests
Senior-Loken syndrome 810 tests
Senior-Loken syndrome 92 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis15 tests
Septo-optic dysplasia sequence4 tests
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome8 tests
Severe dermatitis-multiple allergies-metabolic wasting syndrome2 tests
Severe early-childhood-onset retinal dystrophy7 tests
Severe intellectual disability-progressive spastic diplegia syndrome3 tests
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
Severe myoclonic epilepsy in infancy5 tests
Severe neonatal-onset encephalopathy with microcephaly8 tests
Severe neurodegenerative syndrome with lipodystrophy7 tests
Severe X-linked mitochondrial encephalomyopathy2 tests
Severe X-linked myotubular myopathy3 tests
Short QT syndrome type 16 tests
Short QT syndrome type 27 tests
Short QT syndrome type 36 tests
Short stature due to partial GHR deficiency1 test
Short stature with nonspecific skeletal abnormalities2 tests
Short stature, microcephaly, and endocrine dysfunction2 tests
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1 test
Short-rib thoracic dysplasia 10 with or without polydactyly7 tests
Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
Short-rib thoracic dysplasia 13 with or without polydactyly2 tests
Short-rib thoracic dysplasia 14 with polydactyly3 tests
Short-rib thoracic dysplasia 15 with polydactyly1 test
Short-rib thoracic dysplasia 6 with or without polydactyly4 tests
Short-rib thoracic dysplasia 7 with or without polydactyly8 tests
Short-rib thoracic dysplasia 8 with or without polydactyly3 tests
SHOX-related short stature2 tests
Shprintzen-Goldberg syndrome4 tests
Shwachman-Diamond syndrome 16 tests
Sialic acid storage disease, severe infantile type1 test
Sialidosis type 23 tests
Sialuria4 tests
Sick sinus syndrome 15 tests
Sick sinus syndrome 2, autosomal dominant3 tests
Sick sinus syndrome 3, susceptibility to1 test
Sideroblastic anemia 31 test
Sifrim-Hitz-Weiss syndrome1 test
Silver-Russell syndrome 12 tests
Silver-Russell syndrome 32 tests
Simpson-Golabi-Behmel syndrome type 18 tests
Simpson-Golabi-Behmel syndrome type 213 tests
Singleton-Merten syndrome 11 test
Sitosterolemia 15 tests
Sjögren-Larsson syndrome3 tests
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome2 tests
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES1 test
SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR1 test
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN1 test
Skraban-Deardorff syndrome1 test
SLC35A1-congenital disorder of glycosylation1 test
SLC35A2-congenital disorder of glycosylation3 tests
SLC39A8-CDG2 tests
Small cell lung carcinoma3 tests
Smith-Lemli-Opitz syndrome8 tests
Smith-Magenis syndrome1 test
Smith-McCort dysplasia 14 tests
Smith-McCort dysplasia 21 test
Smoking as a quantitative trait locus 31 test
Snowflake vitreoretinal degeneration3 tests
Sodium serum level quantitative trait locus 16 tests
Solitary median maxillary central incisor syndrome1 test
Somatotroph adenoma3 tests
Sorsby fundus dystrophy2 tests
Sotos syndrome8 tests
Southeast Asian ovalocytosis2 tests
Spastic ataxia 12 tests
Spastic ataxia 21 test
Spastic ataxia 35 tests
Spastic ataxia 42 tests
Spastic ataxia 54 tests
Spastic paraplegia 52, autosomal recessive3 tests
Spastic paraplegia-severe developmental delay-epilepsy syndrome2 tests
Spasticity-ataxia-gait anomalies syndrome1 test
Specific granule deficiency 22 tests
Spermatogenic failure 182 tests
Spermatogenic failure 71 test
Spermatogenic failure 83 tests
Sphingolipid activator protein 1 deficiency3 tests
Spinal muscular atrophy, type II1 test
Spinal muscular atrophy, type IV1 test
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome4 tests
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia 442 tests
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 112 tests
Spinocerebellar ataxia type 122 tests
Spinocerebellar ataxia type 132 tests
Spinocerebellar ataxia type 144 tests
Spinocerebellar ataxia type 15/162 tests
Spinocerebellar ataxia type 19/222 tests
Spinocerebellar ataxia type 212 tests
Spinocerebellar ataxia type 232 tests
Spinocerebellar ataxia type 262 tests
Spinocerebellar ataxia type 273 tests
Spinocerebellar ataxia type 284 tests
Spinocerebellar ataxia type 292 tests
Spinocerebellar ataxia type 312 tests
Spinocerebellar ataxia type 346 tests
Spinocerebellar ataxia type 352 tests
Spinocerebellar ataxia type 382 tests
Spinocerebellar ataxia type 402 tests
Spinocerebellar ataxia type 52 tests
Spinocerebellar ataxia type 65 tests
Spinocerebellar ataxia, autosomal recessive 243 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 25 tests
Split hand-foot malformation 1 with sensorineural hearing loss1 test
Split hand-foot malformation 44 tests
Spondylo-megaepiphyseal-metaphyseal dysplasia2 tests
Spondylo-ocular syndrome1 test
Spondylocarpotarsal synostosis syndrome4 tests
Spondylocostal dysostosis 1, autosomal recessive3 tests
Spondylocostal dysostosis 2, autosomal recessive1 test
Spondyloenchondrodysplasia with immune dysregulation2 tests
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2 tests
Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
Spondyloepimetaphyseal dysplasia, aggrecan type2 tests
Spondyloepimetaphyseal dysplasia, Maroteaux type6 tests
Spondyloepimetaphyseal dysplasia, matrilin-3 type2 tests
Spondyloepimetaphyseal dysplasia, Missouri type3 tests
Spondyloepimetaphyseal dysplasia, PAPSS2 type2 tests
Spondyloepimetaphyseal dysplasia, Strudwick type12 tests
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
Spondyloepiphyseal dysplasia congenita12 tests
Spondyloepiphyseal dysplasia tarda1 test
Spondyloepiphyseal dysplasia tarda, X-linked1 test
Spondyloepiphyseal dysplasia with congenital joint dislocations2 tests
Spondyloepiphyseal dysplasia with metatarsal shortening12 tests
Spondyloepiphyseal dysplasia, Kimberley type2 tests
Spondyloepiphyseal dysplasia, Stanescu type12 tests
Spondylometaphyseal dysplasia, Kozlowski type6 tests
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
Spondyloperipheral dysplasia12 tests
Spongiform encephalopathy with neuropsychiatric features4 tests
Spongy degeneration of central nervous system4 tests
Squamous cell carcinoma of the head and neck13 tests
SRD5A3-congenital disorder of glycosylation1 test
SSR4-congenital disorder of glycosylation1 test
Stapes ankylosis with broad thumbs and toes3 tests
Stargardt disease 36 tests
Stargardt disease 46 tests
STAT3-related early-onset multisystem autoimmune disease2 tests
Steatocystoma multiplex2 tests
Steinert myotonic dystrophy syndrome1 test
Stickler syndrome type 112 tests
Stickler syndrome type 210 tests
Stickler syndrome, type 46 tests
Stickler syndrome, type 56 tests
Stickler syndrome, type I, nonsyndromic ocular12 tests
Stiff skin syndrome7 tests
Stormorken syndrome1 test
Striatal degeneration, autosomal dominant 21 test
Stroke, susceptibility to, 11 test
Stromme syndrome3 tests
STT3A-congenital disorder of glycosylation1 test
STT3B-congenital disorder of glycosylation1 test
Stuttering, familial persistent, 13 tests
Stuve-Wiedemann syndrome4 tests
Succinate-semialdehyde dehydrogenase deficiency6 tests
Succinyl-CoA acetoacetate transferase deficiency1 test
Sucrase-isomaltase deficiency1 test
Sudden cardiac failure, alcohol-induced1 test
Sudden cardiac failure, infantile1 test
SUDDEN INFANT DEATH SYNDROME5 tests
Sulfite oxidase deficiency4 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A5 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C4 tests
Supranuclear palsy, progressive, 12 tests
Supravalvar aortic stenosis7 tests
Surfactant metabolism dysfunction, pulmonary, 14 tests
Surfactant metabolism dysfunction, pulmonary, 24 tests
Surfactant metabolism dysfunction, pulmonary, 44 tests
Surfactant metabolism dysfunction, pulmonary, 52 tests
Symmetrical dyschromatosis of extremities4 tests
Symphalangism, proximal, 1B6 tests
Symphalangism-brachydactyly syndrome3 tests
Syndactyly type 34 tests
Syndactyly type 52 tests
Syndactyly-telecanthus-anogenital and renal malformations syndrome3 tests
Syndromic microphthalmia type 53 tests
Syndromic X-linked intellectual disability 143 tests
Syndromic X-linked intellectual disability 943 tests
Syndromic X-linked intellectual disability Claes-Jensen type3 tests
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Lubs type8 tests
Syndromic X-linked intellectual disability Najm type7 tests
Syndromic X-linked intellectual disability Nascimento type3 tests
Syndromic X-linked intellectual disability Raymond type1 test
Syndromic X-linked intellectual disability Siderius type1 test
Syndromic X-linked intellectual disability Snyder type2 tests
Synpolydactyly type 12 tests
Systemic lupus erythematosus5 tests
Systemic lupus erythematosus, susceptibility to, 91 test
Tall stature-scoliosis-macrodactyly of the great toes syndrome2 tests
Tangier disease3 tests
TARP syndrome2 tests
Tarsal-carpal coalition syndrome3 tests
Tatton-Brown-Rahman overgrowth syndrome1 test
Tay-Sachs disease5 tests
Tay-Sachs disease, variant AB1 test
TCF12-related craniosynostosis2 tests
Telangiectasia, hereditary hemorrhagic, type 15 tests
Telangiectasia, hereditary hemorrhagic, type 24 tests
Telangiectasia, hereditary hemorrhagic, type 51 test
Temple-Baraitser syndrome1 test
Temtamy preaxial brachydactyly syndrome1 test
Terminal osseous dysplasia-pigmentary defects syndrome12 tests
Testicular anomalies with or without congenital heart disease2 tests
Testosterone 17-beta-dehydrogenase deficiency1 test
Tetralogy of Fallot11 tests
Thanatophoric dysplasia type 18 tests
Thanatophoric dysplasia, type 28 tests
Thiel-Behnke corneal dystrophy2 tests
Thiopurine S-methyltransferase deficiency1 test
Thrombocythemia 12 tests
Thrombocythemia 23 tests
Thrombocytopenia 14 tests
Thrombocytopenia 24 tests
Thrombocytopenia 32 tests
Thrombocytopenia 42 tests
Thrombocytopenia 54 tests
Thrombocytopenia 62 tests
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia4 tests
Thrombomodulin-related bleeding disorder4 tests
Thrombophilia due to activated protein C resistance2 tests
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to protein C deficiency, autosomal recessive1 test
Thrombophilia due to protein S deficiency, autosomal dominant1 test
Thrombophilia due to protein S deficiency, autosomal recessive1 test
Thrombophilia due to thrombin defect7 tests
Thrombophilia, X-linked, due to factor 9 defect2 tests
Thyroglobulin synthesis defect1 test
Thyroid cancer, nonmedullary, 15 tests
Thyroid cancer, nonmedullary, 210 tests
Thyroid cancer, nonmedullary, 42 tests
Thyroid dyshormonogenesis 61 test
Thyroid hormone metabolism, abnormal 11 test
Thyroid hormone resistance, generalized, autosomal dominant1 test
Thyroid hormone resistance, generalized, autosomal recessive1 test
Thyrotoxic periodic paralysis, susceptibility to, 12 tests
Tibial muscular dystrophy3 tests
Timothy syndrome5 tests
TMEM165-congenital disorder of glycosylation1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tobacco addiction, susceptibility to5 tests
Tooth agenesis, selective, 11 test
Tooth agenesis, selective, 42 tests
Tooth agenesis, selective, 73 tests
Tooth agenesis, selective, X-linked, 11 test
Torsion dystonia 43 tests
Torsion dystonia 61 test
Townes-Brocks syndrome 12 tests
Transcobalamin II deficiency1 test
Transferrin serum level quantitative trait locus 22 tests
Transient bullous dermolysis of the newborn2 tests
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Treacher Collins syndrome 14 tests
Treacher Collins syndrome 24 tests
Treacher Collins syndrome 32 tests
Tremor, hereditary essential, 42 tests
Tricho-dento-osseous syndrome2 tests
Trichohepatoenteric syndrome 11 test
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome6 tests
Trichorhinophalangeal dysplasia type I1 test
Trichorhinophalangeal syndrome, type III1 test
Trichothiodystrophy 1, photosensitive6 tests
Trichothiodystrophy 2, photosensitive3 tests
Trichothiodystrophy 4, nonphotosensitive2 tests
Triglyceride storage disease with ichthyosis2 tests
Trigonocephaly 16 tests
Trigonocephaly 23 tests
Tropical pancreatitis1 test
Troyer syndrome2 tests
Trypsinogen deficiency1 test
Tuberous sclerosis 112 tests
Tuberous sclerosis 212 tests
Tumor predisposition syndrome 31 test
Tumoral calcinosis, hyperphosphatemic, familial, 15 tests
TWIST1-related craniosynostosis3 tests
Type 1 diabetes mellitus 23 tests
Type 1 diabetes mellitus 204 tests
Type 2 diabetes mellitus30 tests
Type A2 brachydactyly6 tests
Type I complement component 8 deficiency1 test
Type II complement component 8 deficiency1 test
Tyrosinemia type I4 tests
Tyrosinemia type II1 test
Tyrosinemia type III1 test
UDPglucose-4-epimerase deficiency5 tests
Ullrich congenital muscular dystrophy 1A3 tests
Ullrich congenital muscular dystrophy 21 test
Ulnar-mammary syndrome1 test
Unverricht-Lundborg syndrome4 tests
Upshaw-Schulman syndrome3 tests
Usher syndrome type 15 tests
Usher syndrome type 1C3 tests
Usher syndrome type 1D4 tests
Usher syndrome type 1F4 tests
Usher syndrome type 1G1 test
Usher syndrome type 1J3 tests
Usher syndrome type 2A2 tests
Usher syndrome type 2C1 test
Usher syndrome type 2D2 tests
Usher syndrome type 3A2 tests
Usher syndrome type 3B1 test
UV-sensitive syndrome 13 tests
UV-sensitive syndrome 22 tests
VACTERL association, X-linked, with or without hydrocephalus3 tests
VACTERL with hydrocephalus13 tests
Van den Ende-Gupta syndrome1 test
Van der Woude syndrome 14 tests
Van der Woude syndrome 21 test
Van Maldergem syndrome 22 tests
Vanishing white matter disease4 tests
Variegate porphyria2 tests
Velocardiofacial syndrome1 test
Ventricular fibrillation, paroxysmal familial, type 15 tests
Ventricular septal defect 12 tests
Ventricular septal defect 33 tests
Ventriculomegaly-cystic kidney disease2 tests
Very long chain acyl-CoA dehydrogenase deficiency4 tests
Vesicoureteral reflux 21 test
Vici syndrome1 test
Visceral myopathy 11 test
Vitamin D hydroxylation-deficient rickets, type 1B2 tests
Vitamin D-dependent rickets type II with alopecia5 tests
Vitamin D-dependent rickets, type 1A4 tests
Vitamin K-dependent clotting factors, combined deficiency of, type 13 tests
Vitamin K-dependent clotting factors, combined deficiency of, type 22 tests
Vitelliform macular dystrophy 25 tests
Vitelliform macular dystrophy 35 tests
Vitelliform macular dystrophy 42 tests
Vitelliform macular dystrophy 53 tests
Von Hippel-Lindau syndrome6 tests
von Willebrand disease type 12 tests
von Willebrand disease type 22 tests
von Willebrand disease type 32 tests
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2E3 tests
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B2 tests
Waardenburg syndrome type 4C3 tests
Wagner syndrome4 tests
Warburg micro syndrome 12 tests
Warburg micro syndrome 21 test
Warburg micro syndrome 32 tests
Warfarin response3 tests
Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
Weaver syndrome2 tests
Weill-Marchesani 4 syndrome, recessive4 tests
Weill-Marchesani syndrome 16 tests
Weill-Marchesani syndrome 2, dominant7 tests
Weill-Marchesani syndrome 34 tests
Werdnig-Hoffmann disease1 test
Werner syndrome4 tests
Wieacker-Wolff syndrome2 tests
Wilms tumor 124 tests
Wilms tumor 22 tests
Wilms tumor 62 tests
Wilson disease3 tests
Wilson-Turner syndrome1 test
Wiskott-Aldrich syndrome4 tests
Wiskott-Aldrich syndrome 23 tests
Wolcott-Rallison dysplasia4 tests
Wolff-Parkinson-White pattern4 tests
Wolfram syndrome 112 tests
Wolfram syndrome 23 tests
Wolfram-like syndrome12 tests
Woodhouse-Sakati syndrome1 test
Woolly hair-skin fragility syndrome6 tests
Worth disease8 tests
Wrinkly skin syndrome6 tests
X-linked Alport syndrome2 tests
X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
X-linked chondrodysplasia punctata 13 tests
X-linked complicated corpus callosum dysgenesis4 tests
X-linked cone-rod dystrophy 15 tests
X-linked cone-rod dystrophy 33 tests
X-linked distal spinal muscular atrophy type 35 tests
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia4 tests
X-linked dystonia-parkinsonism2 tests
X-linked Emery-Dreifuss muscular dystrophy2 tests
X-linked erythropoietic protoporphyria1 test
X-linked hydrocephalus syndrome4 tests
X-linked ichthyosis with steryl-sulfatase deficiency2 tests
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia5 tests
X-linked intellectual disability Cabezas type4 tests
X-linked intellectual disability with marfanoid habitus6 tests
X-linked intellectual disability, Cantagrel type1 test
X-linked intellectual disability, Stocco dos Santos type2 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome5 tests
X-linked intellectual disability-psychosis-macroorchidism syndrome8 tests
X-linked lissencephaly with abnormal genitalia7 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency2 tests
X-linked lymphoproliferative disease due to XIAP deficiency2 tests
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
X-linked mixed hearing loss with perilymphatic gusher2 tests
X-linked myopathy with excessive autophagy2 tests
X-linked myopathy with postural muscle atrophy2 tests
X-linked Opitz G/BBB syndrome2 tests
X-linked parkinsonism-spasticity syndrome1 test
X-linked recessive nephrolithiasis with renal failure5 tests
X-linked scapuloperoneal muscular dystrophy2 tests
X-linked severe congenital neutropenia4 tests
X-linked sideroblastic anemia 11 test
X-linked sideroblastic anemia with ataxia2 tests
X-linked spondyloepimetaphyseal dysplasia4 tests
Xanthinuria type II1 test
Xeroderma pigmentosum group A2 tests
Xeroderma pigmentosum group B3 tests
Xeroderma pigmentosum variant type2 tests
Xeroderma pigmentosum, group C2 tests
Xeroderma pigmentosum, group D6 tests
Xeroderma pigmentosum, group E2 tests
Xeroderma pigmentosum, group F6 tests
Xeroderma pigmentosum, group G5 tests
XFE progeroid syndrome6 tests
Yao syndrome1 test
Yunis-Varon syndrome2 tests
Zimmermann-Laband syndrome 11 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Carrier testing
Identity Testing
Maternal cell contamination study (MCC)
Mutation Confirmation
Result interpretation
Uniparental Disomy (UPD) Testing

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EMQN, Number: 1667, Expiration date: 2023-08-21

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.