CEN4GEN Institute for Genomics and Molecular Diagnostics

Personnel

Director: Deepak Kamnasaran, PhD, Lab Director
Phone: +1 844-236-4436
Fax: +1 587-329-9566
Email: contact@cen4gen.org

Conditions and tests

4239 conditions/phenotypes with 1518 tests
Enter text to narrow down the list

11p partial monosomy syndrome2 tests
17,20-lyase deficiency, isolated1 test
2-aminoadipic 2-oxoadipic aciduria1 test
2-hydroxyglutaric aciduria1 test
3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
3-M syndrome1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
3-methylglutaconic aciduria type 11 test
3-Methylglutaconic aciduria type 23 tests
3-Methylglutaconic aciduria type 31 test
3-methylglutaconic aciduria type 51 test
3-methylglutaconic aciduria type 81 test
3-methylglutaconic aciduria type 91 test
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
3-methylglutaconic aciduria, type VIIB1 test
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
3MC syndrome 11 test
3MC syndrome 21 test
3MC syndrome 31 test
46,XX ovarian dysgenesis-short stature syndrome1 test
46,XX sex reversal 41 test
46,XY disorder of sex development1 test
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 11 test
46,XY sex reversal 111 test
46,XY sex reversal 21 test
46,XY sex reversal 31 test
46,XY sex reversal 51 test
46,XY sex reversal 61 test
46,XY sex reversal 72 tests
46,XY sex reversal 91 test
5-Oxoprolinase deficiency1 test
Aarskog syndrome2 tests
ABCD syndrome1 test
Abdominal obesity-metabolic syndrome 31 test
Abetalipoproteinaemia1 test
Ablepharon macrostomia syndrome1 test
Abortive cerebellar ataxia1 test
ABri amyloidosis1 test
Abruzzo-Erickson syndrome1 test
Acampomelic campomelic dysplasia1 test
Acatalasemia, japanese type1 test
Acetyl-CoA: carboxylase deficiency1 test
Acheiropodia1 test
Achondrogenesis type II1 test
Achondrogenesis, type IA1 test
Achondrogenesis, type IB1 test
Achondroplasia1 test
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Achromatopsia 61 test
Achromatopsia 71 test
Acid phosphatase deficiency1 test
Acne inversa, familial, 11 test
Acne inversa, familial, 21 test
Acne inversa, familial, 31 test
Acral peeling skin syndrome1 test
Acro-dermato-ungual-lacrimal-tooth (adult) syndrome1 test
Acrocallosal syndrome2 tests
Acrocapitofemoral dysplasia1 test
Acrocephalosyndactyly type I1 test
Acrodermatitis continua suppurativa of Hallopeau1 test
Acrodysostosis 1 with or without hormone resistance1 test
Acrodysostosis 2 with or without hormone resistance1 test
Acrofacial dysostosis Cincinnati type1 test
Acrokeratosis verruciformis of Hopf1 test
Acromelic frontonasal dysostosis1 test
Acromesomelic dysplasia 1, Maroteaux type1 test
Acromesomelic dysplasia 2C, Hunter-Thompson type1 test
Acromesomelic dysplasia 31 test
Acromicric dysplasia1 test
ACTH-independent adrenal Cushing syndrome, somatic1 test
ACTH-independent macronodular adrenal hyperplasia 11 test
ACTH-independent macronodular adrenal hyperplasia 21 test
Actin accumulation myopathy1 test
Action myoclonus-renal failure syndrome1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acute lymphoid leukemia1 test
Acyl-CoA dehydrogenase 9 deficiency1 test
Adams-Oliver syndrome 11 test
Adams-Oliver syndrome 21 test
Adams-Oliver syndrome 31 test
Adams-Oliver syndrome 41 test
Adams-Oliver syndrome 51 test
Adams-Oliver syndrome 61 test
ADan amyloidosis1 test
Adenine phosphoribosyltransferase deficiency1 test
Adenomatous polyposis coli, attenuated1 test
Adenylosuccinate lyase deficiency1 test
Adermatoglyphia1 test
Adiponectin deficiency1 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
Adrenoleukodystrophy1 test
Adrenomyeloneuropathy, adult1 test
Adult i phenotype without cataract1 test
ADULT syndrome1 test
Advanced sleep phase syndrome 11 test
Advanced sleep phase syndrome 21 test
Advanced sleep phase syndrome 31 test
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 5, autosomal dominant1 test
Agammaglobulinemia 6, autosomal recessive1 test
Agammaglobulinemia 7, autosomal recessive1 test
Agammaglobulinemia 8, autosomal dominant1 test
Age related macular degeneration 11 test
Age related macular degeneration 111 test
Age related macular degeneration 121 test
Age related macular degeneration 141 test
Age related macular degeneration 151 test
Age related macular degeneration 21 test
Age related macular degeneration 41 test
Age related macular degeneration 51 test
Age related macular degeneration 61 test
Age related macular degeneration 71 test
Age related macular degeneration 91 test
Age-related macular degeneration1 test
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1 test
Agenesis of the corpus callosum with peripheral neuropathy3 tests
Agnathia-otocephaly complex1 test
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1 test
AHUS, SUSCEPTIBILITY TO, 72 tests
AICA-ribosiduria1 test
Aicardi-Goutieres syndrome 11 test
Aicardi-Goutieres syndrome 21 test
Aicardi-Goutieres syndrome 31 test
Aicardi-Goutieres syndrome 41 test
Aicardi-Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Aicardi-Goutieres syndrome 71 test
Aicardi-Goutieres syndrome 81 test
Aicardi-Goutieres syndrome 91 test
Al Kaissi syndrome1 test
Al-Gazali syndrome1 test
Al-Raqad syndrome1 test
Alacrima, achalasia, and intellectual disability syndrome1 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Alazami-Yuan syndrome1 test
Alcohol sensitivity, acute1 test
ALDH18A1-related de Barsy syndrome1 test
aldo-keto reductase deficiency1 test
Alexander disease1 test
ALG1-congenital disorder of glycosylation1 test
ALG11-congenital disorder of glycosylation1 test
ALG12-congenital disorder of glycosylation1 test
ALG2-congenital disorder of 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
Alkaptonuria1 test
Alkuraya-Kucinskas syndrome1 test
Allan-Herndon-Dudley syndrome1 test
Allergic granulomatosis angiitis1 test
Alopecia - intellectual disability syndrome1 test
Alopecia universalis2 tests
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-1-antichymotrypsin deficiency1 test
Alpha-2-plasmin inhibitor deficiency1 test
Alpha-fetoprotein deficiency1 test
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha-thalassemia/intellectual disability syndrome1 test
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome1 test
Alstrom syndrome1 test
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 21 test
Alveolar capillary dysplasia with pulmonary venous misalignment1 test
Alzahrani-Kuwahara syndrome1 test
Alzheimer disease 21 test
Alzheimer disease 31 test
Alzheimer disease 41 test
Alzheimer disease type 11 test
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia1 test
Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques1 test
AMED syndrome, digenic1 test
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta hypomaturation type 2A21 test
Amelogenesis imperfecta hypomaturation type 2A31 test
Amelogenesis imperfecta hypomaturation type 2A41 test
Amelogenesis imperfecta hypomaturation type 2A51 test
Amelogenesis imperfecta type 1A1 test
Amelogenesis imperfecta type 1C1 test
Amelogenesis imperfecta type 1E1 test
Amelogenesis imperfecta type 1F1 test
Amelogenesis imperfecta type 1G1 test
Amelogenesis imperfecta type 1H1 test
Amelogenesis imperfecta type 2A11 test
Amelogenesis imperfecta type 3B1 test
Amelogenesis imperfecta, hypomaturation type, IIa61 test
Amelogenesis imperfecta, type 1J1 test
Amelogenesis imperfecta, type 3A1 test
Amelogenesis imperfecta, type 3C1 test
Aminoacylase 1 deficiency1 test
Amish lethal microcephaly1 test
Amyloidosis, 3 or more types1 test
Amyloidosis, hereditary systemic 12 tests
Amyloidosis, primary localized cutaneous, 11 test
Amyloidosis, primary localized cutaneous, 21 test
Amyloidosis, primary localized cutaneous, 31 test
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis 10, with or without FTD1 test
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 151 test
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 181 test
Amyotrophic lateral sclerosis type 191 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 201 test
Amyotrophic lateral sclerosis type 211 test
Amyotrophic lateral sclerosis type 221 test
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 61 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis type 91 test
Amyotrophic lateral sclerosis, susceptibility to2 tests
Amyotrophic lateral sclerosis, susceptibility to, 132 tests
Amyotrophic lateral sclerosis, susceptibility to, 241 test
Amyotrophic lateral sclerosis, susceptibility to, 251 test
Amyotrophic neuralgia1 test
Amytrophic lateral sclerosis 231 test
Analbuminemia1 test
Anaphylotoxin inactivator deficiency1 test
Anauxetic dysplasia 11 test
Anauxetic dysplasia 21 test
Andersen Tawil syndrome1 test
Androgen resistance syndrome2 tests
Anemia, congenital dyserythropoietic, type 1a1 test
Anencephaly 11 test
Anencephaly 21 test
Aneurysm, intracranial berry, 121 test
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome1 test
Angioedema, hereditary, 1 and 21 test
Angioedema, hereditary, 41 test
Angioedema, hereditary, 51 test
Angioedema, hereditary, 61 test
Angioedema, hereditary, 71 test
Angioedema, hereditary, 81 test
Aniridia 21 test
Aniridia 31 test
Anonychia2 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
Anterior segment anomalies with or without cataract1 test
ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES1 test
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 41 test
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES1 test
Anterior segment dysgenesis 61 test
Anterior segment dysgenesis 71 test
Anterior segment dysgenesis 81 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Antley-Bixley syndrome with disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 101 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 11 test
Aortic valve disease 21 test
Aplasia cutis congenita1 test
Aplastic anemia2 tests
Apolipoprotein A-II deficiency1 test
Apolipoprotein c-III deficiency1 test
Apparent mineralocorticoid excess1 test
Arginase deficiency1 test
Arginine:glycine amidinotransferase deficiency1 test
Argininosuccinate lyase deficiency1 test
Aromatase deficiency1 test
Aromatase excess syndrome1 test
Arrhinia with choanal atresia and microphthalmia syndrome1 test
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair1 test
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 131 test
Arrhythmogenic right ventricular dysplasia 21 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arterial calcification, generalized, of infancy, 12 tests
Arterial calcification, generalized, of infancy, 21 test
Arterial tortuosity syndrome1 test
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect1 test
Arthrogryposis multiplex congenita 3, myogenic type1 test
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum1 test
Arthrogryposis multiplex congenita 51 test
Arthrogryposis multiplex congenita 61 test
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development1 test
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 1B1 test
Arthrogryposis, distal, type 2B21 test
Arthrogryposis, distal, type 2B31 test
Arthrogryposis, distal, type 2B41 test
Arthrogryposis, renal dysfunction, and cholestasis 12 tests
Arthrogryposis, renal dysfunction, and cholestasis 22 tests
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Arts syndrome2 tests
Aspartylglucosaminuria1 test
Asperger syndrome susceptibility, X-linked 21 test
Asperger syndrome, X-linked, susceptibility to, 11 test
Asphyxiating thoracic dystrophy 21 test
Asphyxiating thoracic dystrophy 31 test
Asphyxiating thoracic dystrophy 41 test
Asphyxiating thoracic dystrophy 51 test
Asthma and nasal polyps1 test
Ataxia - oculomotor apraxia type 41 test
Ataxia with oculomotor apraxia type 31 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset1 test
Ataxia-hypogonadism-choroidal dystrophy syndrome2 tests
Ataxia-pancytopenia syndrome1 test
Ataxia-telangiectasia syndrome1 test
Ataxia-telangiectasia-like disorder 11 test
Ataxia-telangiectasia-like disorder 21 test
Ateleiotic dwarfism1 test
Atelosteogenesis type I2 tests
Atelosteogenesis type II1 test
Atelosteogenesis type III2 tests
Atransferrinemia1 test
Atrial conduction disease1 test
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 151 test
Atrial fibrillation, familial, 162 tests
Atrial fibrillation, familial, 172 tests
Atrial fibrillation, familial, 181 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 71 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 21 test
Atrial septal defect 31 test
Atrial septal defect 41 test
Atrial septal defect 51 test
Atrial septal defect 61 test
Atrial septal defect 71 test
Atrial septal defect 81 test
Atrial septal defect 91 test
Atrial standstill 11 test
Atrial standstill 21 test
Atrichia with papular lesions1 test
Atrioventricular septal defect 41 test
Atrioventricular septal defect 51 test
Atrioventricular septal defect and common atrioventricular junction1 test
Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
Atrioventricular septal defect, susceptibility to, 21 test
Atrophia bulborum hereditaria2 tests
Atypical glycine encephalopathy2 tests
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Au-Kline syndrome1 test
Auditory neuropathy, autosomal recessive, 12 tests
Aural atresia, congenital1 test
Auriculocondylar syndrome 11 test
Auriculocondylar syndrome 21 test
Auriculocondylar syndrome 31 test
Autism spectrum disorder due to AUTS2 deficiency1 test
Autism susceptibility, X-linked 21 test
Autism, susceptibility to, 151 test
Autism, susceptibility to, 161 test
Autism, susceptibility to, 171 test
Autism, susceptibility to, 191 test
Autism, susceptibility to, 51 test
Autism, susceptibility to, X-linked 11 test
Autism, susceptibility to, X-linked 31 test
Autism, susceptibility to, X-linked 41 test
Autism, susceptibility to, X-linked 51 test
Autoimmune disease, multisystem, infantile-onset, 21 test
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1 test
Autoimmune lymphoproliferative syndrome type 2A1 test
Autoimmune lymphoproliferative syndrome, type 1a1 test
Autoimmune lymphoproliferative syndrome, type 1b1 test
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia1 test
Autoinflammation with arthritis and dyskeratosis1 test
Autoinflammation with episodic fever and lymphadenopathy1 test
Autoinflammation, immune dysregulation, and eosinophilia1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
Autoinflammatory syndrome with immunodeficiency1 test
Autoinflammatory syndrome, familial, Behcet-like 11 test
Autonomic nervous system dysfunction1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant aplasia and myelodysplasia1 test
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant centronuclear myopathy1 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant Charcot-Marie-Tooth disease type 2K1 test
Autosomal dominant Charcot-Marie-Tooth disease type 2M1 test
Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant hypocalcemia1 test
Autosomal dominant hypocalcemia 21 test
Autosomal dominant hypophosphatemic rickets1 test
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant Kenny-Caffey syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1 test
Autosomal dominant mitochondrial myopathy with exercise intolerance1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 62 tests
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 651 test
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 701 test
Autosomal dominant nonsyndromic hearing loss 92 tests
Autosomal dominant Opitz G/BBB syndrome1 test
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 11 test
Autosomal dominant osteopetrosis 21 test
Autosomal dominant Parkinson disease 11 test
Autosomal dominant Parkinson disease 41 test
Autosomal dominant Parkinson disease 81 test
Autosomal dominant Robinow syndrome 11 test
Autosomal dominant Robinow syndrome 21 test
Autosomal dominant Robinow syndrome 31 test
Autosomal dominant sensory ataxia 11 test
Autosomal dominant sideroblastic anemia1 test
Autosomal dominant slowed nerve conduction velocity1 test
Autosomal recessive agammaglobulinemia 11 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive amelia1 test
Autosomal recessive ataxia due to ubiquinone deficiency2 tests
Autosomal recessive ataxia, Beauce type2 tests
Autosomal recessive bestrophinopathy1 test
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
Autosomal recessive complex spastic paraplegia type 9B1 test
Autosomal recessive congenital ichthyosis 11 test
Autosomal recessive congenital ichthyosis 101 test
Autosomal recessive congenital ichthyosis 111 test
Autosomal recessive congenital ichthyosis 21 test
Autosomal recessive congenital ichthyosis 31 test
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B1 test
Autosomal recessive congenital ichthyosis 51 test
Autosomal recessive congenital ichthyosis 61 test
Autosomal recessive congenital ichthyosis 81 test
Autosomal recessive congenital ichthyosis 91 test
Autosomal recessive cutis laxa type 2B1 test
Autosomal recessive cutis laxa type 2C1 test
Autosomal recessive cutis laxa type 2D1 test
Autosomal recessive distal spinal muscular atrophy 21 test
Autosomal recessive DOPA responsive dystonia3 tests
Autosomal recessive dyskeratosis congenita 41 test
Autosomal recessive early-onset Parkinson disease 231 test
Autosomal recessive early-onset Parkinson disease 63 tests
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive juvenile Parkinson disease 21 test
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive limb-girdle muscular dystrophy type 2R11 test
Autosomal recessive limb-girdle muscular dystrophy type 2T2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2W2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2X1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Y2 tests
Autosomal recessive limb-girdle muscular dystrophy type R181 test
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency1 test
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 1041 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 261 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 971 test
Autosomal recessive nonsyndromic hearing loss 981 test
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 41 test
Autosomal recessive osteopetrosis 51 test
Autosomal recessive osteopetrosis 61 test
Autosomal recessive osteopetrosis 71 test
Autosomal recessive osteopetrosis 81 test
Autosomal recessive Parkinson disease 141 test
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity1 test
Autosomal recessive progressive external ophthalmoplegia1 test
Autosomal recessive Robinow syndrome2 tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1 test
Autosomal recessive spastic paraplegia type 761 test
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 101 test
Autosomal recessive spinocerebellar ataxia 111 test
Autosomal recessive spinocerebellar ataxia 121 test
Autosomal recessive spinocerebellar ataxia 131 test
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 151 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 171 test
Autosomal recessive spinocerebellar ataxia 181 test
Autosomal recessive spinocerebellar ataxia 21 test
Autosomal recessive spinocerebellar ataxia 201 test
Autosomal recessive spinocerebellar ataxia 71 test
Avascular necrosis of femoral head, primary, 11 test
Avascular necrosis of femoral head, primary, 21 test
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
Ayme-Gripp syndrome1 test
Azoospermia1 test
Azoospermia, obstructive, with nephrolithiasis1 test
Azorean disease2 tests
B-cell non-Hodgkin lymphoma, high-grade1 test
B4GALT1-congenital disorder of glycosylation2 tests
Baller-Gerold syndrome1 test
Bamforth-Lazarus syndrome1 test
Band heterotopia of brain1 test
BAP1 Cancer Syndrome1 test
BAP1-related tumor predisposition syndrome1 test
Baraitser-Winter syndrome1 test
Baraitser-Winter syndrome 11 test
Baraitser-winter syndrome 21 test
Baralle-Macken syndrome1 test
Barber-Say syndrome1 test
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 1, modifier of1 test
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 14, modifier of1 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 191 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 201 test
Bardet-biedl syndrome 211 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 61 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 81 test
Bardet-Biedl syndrome 91 test
Bare lymphocyte syndrome type 2, complementation group A1 test
Barrett esophagus/esophageal adenocarcinoma1 test
Bartsocas-Papas syndrome 21 test
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 31 test
Bartter disease type 4A1 test
Bartter disease type 4B1 test
Bartter disease type 51 test
Basal ganglia calcification, idiopathic, 41 test
Basal ganglia calcification, idiopathic, 51 test
Basal ganglia calcification, idiopathic, 61 test
Basal ganglia calcification, idiopathic, 7, autosomal recessive1 test
Basal laminar drusen1 test
Basan syndrome1 test
Basilicata-Akhtar syndrome1 test
Batten-Turner congenital myopathy2 tests
Beare-Stevenson cutis gyrata syndrome2 tests
Beck-Fahrner syndrome1 test
Becker muscular dystrophy1 test
Beckwith-Wiedemann syndrome1 test
Benign hereditary chorea2 tests
Benign neonatal seizures4 tests
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Bent bone dysplasia syndrome 11 test
BENTA disease1 test
Bernard-Soulier syndrome type C2 tests
Bernard-Soulier syndrome, type A1 (recessive)2 tests
Bernard-Soulier syndrome, type A2, autosomal dominant1 test
Bernard-Soulier syndrome, type B2 tests
Beta-2-adrenoreceptor agonist, reduced response to1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
Bethlem myopathy 1A2 tests
Bethlem myopathy 22 tests
Bietti crystalline corneoretinal dystrophy1 test
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral microtia-deafness-cleft palate syndrome1 test
Bilateral parasagittal parieto-occipital polymicrogyria1 test
Bile acid conjugation defect 11 test
Bile acid malabsorption, primary, 11 test
Bile acid malabsorption, primary, 21 test
Biliary, renal, neurologic, and skeletal syndrome1 test
Biotin-responsive basal ganglia disease2 tests
Biotinidase deficiency1 test
Birk-Barel syndrome1 test
Birt-Hogg-Dube syndrome4 tests
Blau syndrome1 test
Bleeding disorder, platelet-type, 13, susceptibility to1 test
Bleeding disorder, platelet-type, 211 test
Blepharocheilodontic syndrome 11 test
Blepharocheilodontic syndrome 21 test
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome2 tests
Blepharophimosis-impaired intellectual development syndrome1 test
Blistering, acantholytic, of oral and laryngeal mucosa1 test
Bloom syndrome3 tests
Blue color blindness1 test
BNAR syndrome1 test
Bohring-Opitz syndrome1 test
Bone marrow failure syndrome 31 test
Bone marrow failure syndrome 41 test
Bone marrow failure syndrome 51 test
Boomerang dysplasia2 tests
Borjeson-Forssman-Lehmann syndrome2 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Bosley-Salih-Alorainy syndrome1 test
Bothnia retinal dystrophy1 test
Boudin-Mortier syndrome1 test
Bowen-Conradi syndrome1 test
Brachycephaly, trichomegaly, and developmental delay1 test
Brachydactyly type A11 test
Brachydactyly type A1C1 test
Brachydactyly type A1D1 test
Brachydactyly type B11 test
Brachydactyly type B21 test
Brachydactyly type C1 test
Brachydactyly type D1 test
Brachydactyly type E1 test
Brachydactyly type E21 test
Brachydactyly-syndactyly syndrome1 test
Brachyolmia-amelogenesis imperfecta syndrome1 test
Brachyrachia (short spine dysplasia)1 test
Bradyopsia1 test
Brain abnormalities, neurodegeneration, and dysosteosclerosis1 test
Brain dopamine-serotonin vesicular transport disease1 test
Brain malformations with or without urinary tract defects1 test
Brain small vessel disease 31 test
Brain small vessel disease with or without ocular anomalies1 test
Brain tumor-polyposis syndrome 22 tests
Brain-lung-thyroid syndrome1 test
Branched-chain keto acid dehydrogenase kinase deficiency1 test
Branchiooculofacial syndrome1 test
Branchiootic syndrome 11 test
Branchiootorenal Spectrum Disorders1 test
Breast neoplasm1 test
Breasts and/or nipples, aplasia or hypoplasia of, 21 test
Brittle cornea syndrome 12 tests
Brittle cornea syndrome 22 tests
Brody myopathy1 test
Bronchiectasis with or without elevated sweat chloride 11 test
Bronchiectasis with or without elevated sweat chloride 1, modifier of1 test
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Brooke-Spiegler syndrome1 test
Brown-Vialetto-van Laere syndrome 12 tests
Brown-Vialetto-van Laere syndrome 21 test
Bruck syndrome 11 test
Bruck syndrome 21 test
Brugada syndrome 11 test
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 61 test
Brugada syndrome 72 tests
Brugada syndrome 81 test
Brugada syndrome 91 test
Brunner syndrome1 test
Buratti-Harel syndrome1 test
C syndrome1 test
C1 inhibitor deficiency1 test
C1Q deficiency1 test
C3 deficiency1 test
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia1 test
Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome)1 test
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
Camptomelic dysplasia2 tests
Camptosynpolydactyly, complex1 test
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma1 test
Candidiasis, familial, 61 test
Candidiasis, familial, 81 test
Candidiasis, familial, 91 test
Capillary malformation-arteriovenous malformation 12 tests
Capillary malformation-arteriovenous malformation 22 tests
Capillary malformation-arteriovenous malformation syndrome2 tests
CARASIL syndrome2 tests
Cardiac arrhythmia, ankyrin-B-related2 tests
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiac, facial, and digital anomalies with developmental delay1 test
Cardiac-urogenital syndrome1 test
Cardio-facio-cutaneous syndrome1 test
Cardioacrofacial dysplasia 11 test
Cardioacrofacial dysplasia 21 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiofacioneurodevelopmental syndrome1 test
Cardiomyopathy1 test
Cardiomyopathy, dilated, 1AA, with or without LVNC2 tests
Cardiomyopathy, dilated, 1LL2 tests
Cardiomyopathy, dilated, 1MM1 test
Cardiomyopathy, familial hypertrophic 271 test
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Cardiomyopathy, familial restrictive, 43 tests
Cardiomyopathy, familial restrictive, 52 tests
Cardiomyopathy, hypertrophic, 1, digenic1 test
Cardiomyopathy, hypertrophic, 23, with or without LVNC2 tests
Cardiospondylocarpofacial syndrome1 test
Carney complex - trismus - pseudocamptodactyly syndrome1 test
Carney complex, type 11 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Carotid intimal medial thickness 11 test
Carpal tunnel syndrome 11 test
Carpal tunnel syndrome 21 test
Carpenter syndrome1 test
Cat eye syndrome1 test
Cataract 1 multiple types1 test
Cataract 10 multiple types1 test
Cataract 11 multiple types1 test
Cataract 11, syndromic, autosomal recessive1 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 types1 test
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 types1 test
Cataract 22 multiple types1 test
Cataract 231 test
Cataract 3 multiple types1 test
Cataract 301 test
Cataract 31 multiple types1 test
Cataract 331 test
Cataract 34 multiple types1 test
Cataract 361 test
Cataract 381 test
Cataract 39 multiple types1 test
Cataract 4 multiple types1 test
Cataract 401 test
Cataract 411 test
Cataract 421 test
Cataract 431 test
Cataract 441 test
Cataract 451 test
Cataract 46 juvenile-onset1 test
Cataract 481 test
Cataract 5 multiple types1 test
Cataract 6 multiple types1 test
Cataract 9 multiple types1 test
Cataract with late-onset corneal dystrophy1 test
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 21 test
Catecholaminergic polymorphic ventricular tachycardia 31 test
Catecholaminergic polymorphic ventricular tachycardia 41 test
Catecholaminergic polymorphic ventricular tachycardia 52 tests
Catel-Manzke syndrome1 test
Catifa syndrome1 test
Caudal duplication1 test
Caudal regression sequence1 test
Cavernous malformations of CNS and retina1 test
Cayman type cerebellar ataxia1 test
CBX2-related complete gonadal dysgenesis1 test
CCDC115-CDG2 tests
CEBALID syndrome1 test
Celiac disease1 test
Celiac disease, susceptibility to1 test
Celiac disease, susceptibility to, 31 test
Celiac disease, susceptibility to, 41 test
Cenani-Lenz syndactyly syndrome1 test
Central core myopathy1 test
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung1 test
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction1 test
Central hypoventilation syndrome, congenital, 31 test
Central precocious puberty 11 test
Centronuclear myopathy, autosomal, modifier of1 test
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome1 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
Cerebellar ataxia-hypogonadism syndrome2 tests
Cerebellar atrophy with seizures and variable developmental delay1 test
Cerebellar atrophy, developmental delay, and seizures1 test
Cerebellar atrophy, visual impairment, and psychomotor retardation;1 test
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1 test
Cerebellar hypoplasia1 test
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome1 test
Cerebellar, ocular, craniofacial, and genital syndrome1 test
Cerebellar-facial-dental syndrome1 test
Cerebral amyloid angiopathy1 test
Cerebral amyloid angiopathy, APP-related1 test
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
Cerebral cavernous malformation 11 test
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma1 test
Cerebral palsy, spastic quadriplegic, 22 tests
Cerebral palsy, spastic quadriplegic, 32 tests
Cerebro-costo-mandibular syndrome1 test
Cerebro-facio-thoracic dysplasia1 test
Cerebrofrontofacial syndrome type 11 test
Cerebrofrontofacial syndrome type 31 test
Cerebrooculofacioskeletal syndrome 11 test
Cerebrooculofacioskeletal syndrome 21 test
Cerebrooculofacioskeletal syndrome 31 test
Cerebrooculofacioskeletal syndrome 41 test
Cerebroretinal microangiopathy with calcifications and cysts 21 test
Cerebrovascular disease, occlusive1 test
Ceroid lipofuscinosis, neuronal, 4, Parry type1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset1 test
Char syndrome1 test
Charcot-Marie-Tooth disease axonal type 2C2 tests
Charcot-Marie-Tooth disease axonal type 2CC1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O1 test
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease axonal type 2Q1 test
Charcot-Marie-Tooth disease axonal type 2S1 test
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease axonal type 2U1 test
Charcot-Marie-Tooth disease axonal type 2V1 test
Charcot-Marie-Tooth disease axonal type 2X1 test
Charcot-Marie-Tooth disease axonal type 2Z1 test
Charcot-Marie-Tooth disease dominant intermediate B1 test
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease dominant intermediate F1 test
Charcot-Marie-Tooth disease recessive intermediate A1 test
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease recessive intermediate C1 test
Charcot-Marie-Tooth disease recessive intermediate D1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 21 test
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 2B21 test
Charcot-Marie-Tooth disease type 2D1 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2R1 test
Charcot-Marie-Tooth disease type 2Y1 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4B21 test
Charcot-Marie-Tooth disease type 4B31 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4G1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease X-linked dominant 61 test
Charcot-Marie-Tooth disease X-linked recessive 42 tests
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
Charcot-marie-tooth disease, axonal, type 2DD1 test
Charcot-Marie-Tooth disease, axonal, type 2EE1 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Charcot-Marie-Tooth disease, demyelinating, IIA 1H1 test
Charcot-Marie-Tooth disease, demyelinating, type 1G1 test
Charcot-Marie-Tooth disease, dominant intermediate G1 test
Charcot-Marie-Tooth disease, type 1a, autosomal recessive1 test
Charcot-Marie-Tooth neuropathy, X-linked dominant, 11 test
CHARGE syndrome3 tests
Charlevoix-Saguenay spastic ataxia1 test
Chilblain lupus 11 test
Chilblain lupus 21 test
Child syndrome1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
Childhood Myocerebrohepatopathy Spectrum Disorders1 test
Childhood onset GLUT1 deficiency syndrome 22 tests
CHIME syndrome1 test
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
Cholestanol storage disease1 test
Cholestasis, progressive familial intrahepatic, 41 test
Cholestasis, progressive familial intrahepatic, 51 test
Cholesteryl ester storage disease1 test
Chondrocalcinosis 21 test
Chondrodysplasia Blomstrand type1 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Chondrodysplasia with joint dislocations, gPAPP type1 test
Chondrosarcoma1 test
Chopra-Amiel-Gordon syndrome1 test
Chorea, childhood-onset, with psychomotor retardation1 test
Chorea-acanthocytosis1 test
Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress1 test
Choroidal dystrophy, central areolar 21 test
Choroidal dystrophy, central areolar, 11 test
Choroideremia1 test
Christianson syndrome1 test
Chromosome 5q14.3 deletion syndrome1 test
Chronic atrial and intestinal dysrhythmia1 test
Chronic granulomatous disease due to deficiency of NCF-11 test
Chronic granulomatous disease due to deficiency of NCF-21 test
Chronic granulomatous disease, autosomal, due to deficiency of CYBA1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic myelogenous leukemia, BCR-ABL1 positive1 test
Chudley-McCullough syndrome1 test
Chuvash polycythemia1 test
Chylomicron retention disease1 test
Chédiak-Higashi syndrome1 test
CIDEC-related familial partial lipodystrophy1 test
Ciliary dyskinesia, primary, 36, X-linked1 test
Ciliary dyskinesia, primary, 371 test
Ciliary dyskinesia, primary, 381 test
Ciliary dyskinesia, primary, 391 test
Ciliary dyskinesia, primary, 401 test
Ciliary dyskinesia, primary, 411 test
Cirrhosis, cryptogenic1 test
Citrullinemia1 test
Citrullinemia, type II, adult-onset1 test
CK syndrome1 test
Clark-Baraitser syndrome1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic dopamine transporter deficiency syndrome1 test
Classic lissencephaly1 test
Cleft lip/palate-ectodermal dysplasia syndrome2 tests
Cleft palate with ankyloglossia1 test
Cleft palate, proliferative retinopathy, and developmental delay1 test
Cleidocranial dysostosis1 test
Cleidocranial dysplasia, forme fruste, dental anomalies only1 test
Cleidocranial dysplasia, forme fruste, with brachydactyly1 test
Clubfoot1 test
COACH syndrome 11 test
COACH syndrome 21 test
COACH syndrome 31 test
Coats plus syndrome1 test
Cobblestone lissencephaly without muscular or ocular involvement1 test
Cockayne syndrome type 11 test
Cockayne syndrome type 21 test
Cocoon syndrome1 test
CODAS syndrome1 test
Coenzyme Q10 deficiency1 test
Coenzyme Q10 deficiency, primary, 11 test
Coenzyme Q10 deficiency, primary, 31 test
Coffin-Lowry syndrome1 test
Coffin-Siris syndrome 12 tests
Coffin-Siris syndrome 52 tests
Coffin-Siris syndrome 62 tests
Coffin-Siris syndrome 72 tests
Coffin-Siris syndrome 82 tests
COG1 congenital disorder of glycosylation2 tests
COG4-congenital disorder of glycosylation2 tests
COG5-congenital disorder of glycosylation2 tests
COG6-ongenital disorder of glycosylation2 tests
COG7 congenital disorder of glycosylation2 tests
COG8-congenital disorder of glycosylation2 tests
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1 test
Cognitive impairment with or without cerebellar ataxia1 test
Cohen syndrome1 test
Cohen-Gibson syndrome1 test
Cold-induced sweating syndrome 11 test
Cold-induced sweating syndrome 21 test
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 21 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
Colorectal cancer3 tests
Combined ApoA-I and ApoC-III deficiency1 test
Combined C6/C7 deficiency1 test
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
Combined immunodeficiency due to CD3gamma deficiency1 test
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined immunodeficiency due to GINS1 deficiency1 test
Combined immunodeficiency due to LRBA deficiency1 test
Combined immunodeficiency due to MALT1 deficiency1 test
Combined immunodeficiency due to moesin deficiency1 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to OX40 deficiency1 test
Combined immunodeficiency due to partial RAG1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined immunodeficiency due to ZAP70 deficiency1 test
Combined immunodeficiency with faciooculoskeletal anomalies1 test
Combined immunodeficiency with skin granulomas1 test
Combined immunodeficiency, X-linked, moderate2 tests
Combined malonic and methylmalonic acidemia1 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation defect type 111 test
Combined oxidative phosphorylation defect type 131 test
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation defect type 151 test
Combined oxidative phosphorylation defect type 171 test
Combined oxidative phosphorylation defect type 21 test
Combined oxidative phosphorylation defect type 201 test
Combined oxidative phosphorylation defect type 211 test
Combined oxidative phosphorylation defect type 231 test
Combined oxidative phosphorylation defect type 241 test
Combined oxidative phosphorylation defect type 251 test
Combined oxidative phosphorylation defect type 261 test
Combined oxidative phosphorylation defect type 271 test
Combined oxidative phosphorylation defect type 301 test
Combined oxidative phosphorylation defect type 41 test
Combined oxidative phosphorylation defect type 71 test
Combined oxidative phosphorylation defect type 81 test
Combined oxidative phosphorylation defect type 91 test
Combined oxidative phosphorylation deficiency 191 test
Combined oxidative phosphorylation deficiency 221 test
Combined oxidative phosphorylation deficiency 281 test
Combined oxidative phosphorylation deficiency 291 test
Combined oxidative phosphorylation deficiency 321 test
Combined oxidative phosphorylation deficiency 331 test
Combined oxidative phosphorylation deficiency 341 test
Combined oxidative phosphorylation deficiency 351 test
Combined oxidative phosphorylation deficiency 361 test
Combined oxidative phosphorylation deficiency 371 test
Combined oxidative phosphorylation deficiency 381 test
Combined oxidative phosphorylation deficiency 391 test
Combined pituitary hormone deficiencies, genetic form1 test
Combined PSAP deficiency1 test
Complement component 2 deficiency1 test
Complement component 4a deficiency1 test
Complement component 4b deficiency1 test
Complement component 5 deficiency1 test
Complement component 6 deficiency1 test
Complement component 9 deficiency1 test
Complement component C1s deficiency1 test
Complex cortical dysplasia with other brain malformations 11 test
Complex cortical dysplasia with other brain malformations 21 test
Complex cortical dysplasia with other brain malformations 31 test
Complex cortical dysplasia with other brain malformations 41 test
Complex cortical dysplasia with other brain malformations 51 test
Complex cortical dysplasia with other brain malformations 61 test
Complex cortical dysplasia with other brain malformations 71 test
Compton-North congenital myopathy1 test
Conduction system disorder2 tests
Cone dystrophy 31 test
Cone dystrophy 41 test
Cone monochromatism2 tests
Cone-rod dystrophy1 test
Cone-rod dystrophy 101 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 141 test
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 162 tests
Cone-rod dystrophy 181 test
Cone-rod dystrophy 191 test
Cone-rod dystrophy 21 test
Cone-rod dystrophy 201 test
Cone-rod dystrophy 211 test
Cone-rod dystrophy 31 test
Cone-rod dystrophy 51 test
Cone-rod dystrophy 61 test
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod dystrophy and hearing loss1 test
Cone-rod dystrophy and hearing loss 21 test
Cone-rod synaptic disorder syndrome, congenital nonprogressive1 test
Cone-rod synaptic disorder, congenital nonprogressive1 test
Congenital absence of salivary gland1 test
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital adrenal hypoplasia1 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2 tests
Congenital afibrinogenemia1 test
Congenital aniridia1 test
Congenital anomalies of kidney and urinary tract 11 test
Congenital anomalies of kidney and urinary tract 21 test
Congenital anomalies of kidney and urinary tract 31 test
Congenital bilateral absence of vas deferens1 test
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital bile acid synthesis defect 31 test
Congenital bile acid synthesis defect 41 test
Congenital bile acid synthesis defect 52 tests
Congenital bile acid synthesis defect 61 test
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital cerebellar hypoplasia1 test
Congenital contractural arachnodactyly2 tests
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital defect of folate absorption1 test
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital diarrhea 61 test
Congenital diarrhea 7 with exudative enteropathy1 test
Congenital disorder of glycosylation type 1E1 test
Congenital disorder of glycosylation type Ir1 test
Congenital disorder of glycosylation with defective fucosylation 11 test
Congenital disorder of glycosylation with defective fucosylation 21 test
Congenital disorder of glycosylation, type 2v1 test
Congenital disorder of glycosylation, type IAA1 test
Congenital disorder of glycosylation, type Ibb1 test
Congenital disorder of glycosylation, type IIq1 test
Congenital disorder of glycosylation, type IIr1 test
Congenital disorder of glycosylation, type iit1 test
Congenital disorder of glycosylation, type IIw1 test
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia type type 1B1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital fibrosis of extraocular muscles type 11 test
Congenital generalized lipodystrophy1 test
Congenital generalized lipodystrophy type 11 test
Congenital generalized lipodystrophy type 21 test
Congenital generalized lipodystrophy type 31 test
Congenital generalized lipodystrophy type 41 test
Congenital heart defects and ectodermal dysplasia1 test
Congenital heart defects and skeletal malformations syndrome1 test
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, 51 test
Congenital heart defects, multiple types, 61 test
Congenital heart defects, multiple types, 71 test
Congenital heart defects, nonsyndromic, 1, X-linked2 tests
Congenital hereditary endothelial dystrophy of cornea1 test
Congenital hyperammonemia, type I1 test
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
Congenital insensitivity to pain-hypohidrosis syndrome1 test
Congenital isolated adrenocorticotropic hormone deficiency1 test
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Congenital malabsorptive diarrhea 41 test
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1 test
Congenital microvillous atrophy1 test
Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome1 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 122 tests
Congenital myasthenic syndrome 132 tests
Congenital myasthenic syndrome 142 tests
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 171 test
Congenital myasthenic syndrome 181 test
Congenital myasthenic syndrome 191 test
Congenital myasthenic syndrome 1A1 test
Congenital myasthenic syndrome 201 test
Congenital myasthenic syndrome 211 test
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C1 test
Congenital myasthenic syndrome 3A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 71 test
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 91 test
Congenital myopathy 232 tests
Congenital myopathy 4A, autosomal dominant2 tests
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with internal nuclei and atypical cores1 test
Congenital neutropenia3 tests
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
Congenital nongoitrous hypothyroidism 61 test
Congenital nonprogressive myopathy with Moebius and Robin sequences1 test
Congenital nystagmus1 test
Congenital ocular coloboma1 test
Congenital primary aphakia1 test
Congenital ptosis1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory sodium diarrhea 31 test
Congenital secretory sodium diarrhea 81 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital short bowel syndrome1 test
Congenital stationary night blindness 1B1 test
Congenital stationary night blindness 1C1 test
Congenital stationary night blindness 1D1 test
Congenital stationary night blindness 1E1 test
Congenital stationary night blindness 1F1 test
Congenital stationary night blindness 1G1 test
Congenital stationary night blindness 1H1 test
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 11 test
Congenital stationary night blindness autosomal dominant 21 test
Congenital stationary night blindness autosomal dominant 31 test
Congenital stromal corneal dystrophy1 test
Conotruncal anomaly face syndrome1 test
Conotruncal heart malformations1 test
Conotruncal heart malformations, variable1 test
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A2 tests
Contractures, pterygia, and variable skeletal fusions syndrome 1B1 test
COPD, rate of decline of lung function in1 test
Cornea plana 21 test
Corneal dystrophy, Fuchs endothelial, 11 test
Corneal dystrophy, Fuchs endothelial, 31 test
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, Fuchs endothelial, 81 test
Corneal dystrophy, lattice type 3A1 test
Corneal dystrophy, posterior polymorphous, 41 test
Corneal dystrophy-perceptive deafness syndrome1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome2 tests
Cortical dysplasia, complex, with other brain malformations 91 test
Cortical dysplasia-focal epilepsy syndrome1 test
Corticobasal degeneration disorder1 test
Corticosteroid-binding globulin deficiency1 test
Cortisone reductase deficiency 11 test
Cortisone reductase deficiency 21 test
Costello syndrome1 test
COVID-194 tests
Cowden syndrome3 tests
Cowden syndrome 11 test
Cowden syndrome 41 test
Cowden syndrome 51 test
Cowden syndrome 61 test
Cowden syndrome 71 test
Craniodiaphyseal dysplasia, autosomal dominant1 test
Cranioectodermal dysplasia 31 test
Cranioectodermal dysplasia 41 test
Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
Craniofacial-deafness-hand syndrome1 test
Craniofacial-skeletal-dermatologic dysplasia1 test
Craniofrontonasal syndrome1 test
Craniolenticulosutural dysplasia1 test
Craniometaphyseal dysplasia1 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Cranioosteoarthropathy2 tests
Craniosynostosis 21 test
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis 61 test
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO1 test
Cranium bifidum occultum1 test
Creatine transporter deficiency1 test
Creutzfeldt-Jakob disease1 test
Crigler-Najjar syndrome type 12 tests
Crigler-Najjar syndrome, type II2 tests
Crohn disease-associated growth failure, susceptibility to1 test
Crouzon syndrome2 tests
Crouzon syndrome-acanthosis nigricans syndrome3 tests
Cryohydrocytosis1 test
Cryptorchidism1 test
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1 test
Curly hair, ankyloblepharon, nail dysplasia syndrome1 test
Currarino triad1 test
Curry-Hall syndrome1 test
Cutis laxa2 tests
Cutis laxa with osteodystrophy2 tests
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1 test
Cutis laxa, autosomal dominant1 test
Cutis laxa, autosomal dominant 21 test
Cutis laxa, autosomal dominant 31 test
Cutis laxa, autosomal recessive, type 1A1 test
Cutis laxa, autosomal recessive, type 1B2 tests
Cyanosis, transient neonatal1 test
Cyclical neutropenia1 test
Cystathioninuria1 test
Cystic fibrosis1 test
Cystinosis, atypical nephropathic1 test
Cystinuria1 test
D-2-hydroxyglutaric aciduria1 test
D-2-hydroxyglutaric aciduria 21 test
D-Glyceric aciduria1 test
Danon disease1 test
De la Chapelle dysplasia2 tests
DE SANCTIS-CACCHIONE SYNDROME1 test
Deafness , autosomal recessive 861 test
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, autosomal recessive 12, modifier of1 test
Deafness, cataract, impaired intellectual development, and polyneuropathy1 test
Deafness, congenital heart defects, and posterior embryotoxon1 test
Deafness, congenital, and adult-onset progressive leukoencephalopathy1 test
Deafness, digenic, GJB2/GJB31 test
Deafness, digenic, GJB2/GJB62 tests
Deafness, neurosensory, without vestibular involvement, autosomal dominant1 test
Deafness, X-linked 52 tests
Deafness, Y-linked 21 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
Deeah syndrome1 test
Deep venous thrombosis, protection against1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Deficiency of beta-ureidopropionase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of butyrylcholinesterase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of hyaluronoglucosaminidase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of steroid 17-alpha-monooxygenase1 test
DEGCAGS syndrome1 test
Dehydrated hereditary stomatocytosis 21 test
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
Dejerine-Sottas disease2 tests
Delpire-McNeill syndrome1 test
Delta-beta-thalassemia1 test
Dementia with epilepsy1 test
Dent disease type 11 test
Dent disease type 21 test
Dentatorubral-pallidoluysian atrophy1 test
Denticles1 test
Dentin dysplasia type I1 test
Dentinogenesis imperfecta type 21 test
Dentinogenesis imperfecta type 31 test
Dermatitis, atopic, 2, susceptibility to1 test
Dermatitis, atopic, susceptibility to, 11 test
Dermatofibrosarcoma protuberans1 test
Dermatofibrosis lenticularis disseminata1 test
Dermatopathia pigmentosa reticularis1 test
DeSanto-Shinawi syndrome1 test
Desbuquois dysplasia 11 test
Desbuquois dysplasia 21 test
Desmin-related myofibrillar myopathy1 test
Desmoid disease, hereditary1 test
Desmosterolosis1 test
Deuteranomaly1 test
Developmental and epileptic encephalopathy 6B1 test
Developmental and epileptic encephalopathy 891 test
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy 961 test
Developmental and epileptic encephalopathy 971 test
Developmental and epileptic encephalopathy, 12 tests
Developmental and epileptic encephalopathy, 112 tests
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 133 tests
Developmental and epileptic encephalopathy, 142 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 163 tests
Developmental and epileptic encephalopathy, 172 tests
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 192 tests
Developmental and epileptic encephalopathy, 22 tests
Developmental and epileptic encephalopathy, 212 tests
Developmental and epileptic encephalopathy, 232 tests
Developmental and epileptic encephalopathy, 242 tests
Developmental and epileptic encephalopathy, 252 tests
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 272 tests
Developmental and epileptic encephalopathy, 282 tests
Developmental and epileptic encephalopathy, 292 tests
Developmental and epileptic encephalopathy, 32 tests
Developmental and epileptic encephalopathy, 302 tests
Developmental and epileptic encephalopathy, 31A2 tests
Developmental and epileptic encephalopathy, 322 tests
Developmental and epileptic encephalopathy, 332 tests
Developmental and epileptic encephalopathy, 342 tests
Developmental and epileptic encephalopathy, 352 tests
Developmental and epileptic encephalopathy, 363 tests
Developmental and epileptic encephalopathy, 372 tests
Developmental and epileptic encephalopathy, 382 tests
Developmental and epileptic encephalopathy, 392 tests
Developmental and epileptic encephalopathy, 42 tests
Developmental and epileptic encephalopathy, 401 test
Developmental and epileptic encephalopathy, 412 tests
Developmental and epileptic encephalopathy, 422 tests
Developmental and epileptic encephalopathy, 432 tests
Developmental and epileptic encephalopathy, 442 tests
Developmental and epileptic encephalopathy, 452 tests
Developmental and epileptic encephalopathy, 462 tests
Developmental and epileptic encephalopathy, 472 tests
Developmental and epileptic encephalopathy, 482 tests
Developmental and epileptic encephalopathy, 492 tests
Developmental and epileptic encephalopathy, 52 tests
Developmental and epileptic encephalopathy, 502 tests
Developmental and epileptic encephalopathy, 512 tests
Developmental and epileptic encephalopathy, 522 tests
Developmental and epileptic encephalopathy, 532 tests
Developmental and epileptic encephalopathy, 542 tests
Developmental and epileptic encephalopathy, 552 tests
Developmental and epileptic encephalopathy, 562 tests
Developmental and epileptic encephalopathy, 572 tests
Developmental and epileptic encephalopathy, 582 tests
Developmental and epileptic encephalopathy, 592 tests
Developmental and epileptic encephalopathy, 602 tests
Developmental and epileptic encephalopathy, 612 tests
Developmental and epileptic encephalopathy, 622 tests
Developmental and epileptic encephalopathy, 632 tests
Developmental and epileptic encephalopathy, 642 tests
Developmental and epileptic encephalopathy, 652 tests
Developmental and epileptic encephalopathy, 662 tests
Developmental and epileptic encephalopathy, 672 tests
Developmental and epileptic encephalopathy, 682 tests
Developmental and epileptic encephalopathy, 692 tests
Developmental and epileptic encephalopathy, 74 tests
Developmental and epileptic encephalopathy, 702 tests
Developmental and epileptic encephalopathy, 712 tests
Developmental and epileptic encephalopathy, 722 tests
Developmental and epileptic encephalopathy, 732 tests
Developmental and epileptic encephalopathy, 742 tests
Developmental and epileptic encephalopathy, 752 tests
Developmental and epileptic encephalopathy, 761 test
Developmental and epileptic encephalopathy, 771 test
Developmental and epileptic encephalopathy, 781 test
Developmental and epileptic encephalopathy, 791 test
Developmental and epileptic encephalopathy, 82 tests
Developmental and epileptic encephalopathy, 801 test
Developmental and epileptic encephalopathy, 811 test
Developmental and epileptic encephalopathy, 821 test
Developmental and epileptic encephalopathy, 831 test
Developmental and epileptic encephalopathy, 841 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental and epileptic encephalopathy, 871 test
Developmental and epileptic encephalopathy, 92 tests
Developmental and epileptic encephalopathy, 901 test
Developmental delay and seizures with or without movement abnormalities1 test
Developmental delay with autism spectrum disorder and gait instability1 test
Developmental delay with dysmorphic facies and dental anomalies1 test
Developmental delay with or without dysmorphic facies and autism1 test
Developmental delay with short stature, dysmorphic facial features, and sparse hair1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1 test
Developmental delay, impaired speech, and behavioral abnormalities1 test
Developmental dysplasia of the hip 11 test
Developmental dysplasia of the hip 21 test
Diabetes insipidus, neurohypophyseal, X-linked1 test
Diabetes mellitus, permanent neonatal 22 tests
Diabetes mellitus, permanent neonatal 31 test
Diabetes mellitus, permanent neonatal 41 test
Diabetes mellitus, transient neonatal, 11 test
Diabetes mellitus, transient neonatal, 21 test
Diabetes mellitus, transient neonatal, 31 test
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 111 test
Diamond-Blackfan anemia 121 test
Diamond-Blackfan anemia 131 test
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1 test
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
Diamond-Blackfan anemia 161 test
Diamond-Blackfan anemia 171 test
Diamond-Blackfan anemia 181 test
Diamond-Blackfan anemia 191 test
Diamond-Blackfan anemia 201 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 81 test
Diamond-Blackfan anemia 91 test
Diaphanospondylodysostosis1 test
Diaphragmatic hernia 31 test
Diaphyseal dysplasia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome1 test
Diarrhea 10, protein-losing enteropathy type1 test
Diarrhea 91 test
Dias-Logan syndrome1 test
Diastrophic dysplasia1 test
Diastrophic dysplasia, broad bone-platyspondylic variant1 test
Dicarboxylic aminoaciduria1 test
Diencephalic-mesencephalic junction dysplasia syndrome 11 test
Diencephalic-mesencephalic junction dysplasia syndrome 21 test
Diets-Jongmans syndrome1 test
Diffuse Gastric Cancer Syndrome1 test
DiGeorge syndrome1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C3 tests
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1D2 tests
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK3 tests
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1NN1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S2 tests
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy 1V1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y2 tests
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 2B1 test
Dilated cardiomyopathy 3B1 test
Distal arthrogryposis type 2B11 test
Distal arthrogryposis type 5D1 test
DK1-congenital disorder of glycosylation1 test
DOCK2 deficiency1 test
DOORS syndrome2 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Dowling-Degos disease 11 test
Dowling-Degos disease 21 test
Dowling-Degos disease 41 test
DPAGT1-congenital disorder of glycosylation1 test
DPM3-congenital disorder of glycosylation1 test
Drash syndrome1 test
Dravet syndrome, modifier of1 test
Duane retraction syndrome 21 test
Duane retraction syndrome 3 with or without deafness1 test
Duane-radial ray syndrome1 test
Dubin-Johnson syndrome1 test
DYRK1A-related intellectual disability syndrome1 test
Dyschromatosis universalis hereditaria 11 test
Dyschromatosis universalis hereditaria 31 test
Dyskeratosis congenita, autosomal dominant 11 test
Dyskeratosis congenita, autosomal dominant 21 test
Dyskeratosis congenita, autosomal dominant 31 test
Dyskeratosis congenita, autosomal dominant 41 test
Dyskeratosis congenita, autosomal dominant 61 test
Dyskeratosis congenita, autosomal recessive 11 test
Dyskeratosis congenita, autosomal recessive 21 test
Dyskeratosis congenita, autosomal recessive 31 test
Dyskeratosis congenita, autosomal recessive 51 test
Dyskeratosis congenita, autosomal recessive 61 test
Dyskeratosis congenita, autosomal recessive 71 test
Dyskeratosis congenita, X-linked1 test
Dystonia 121 test
Dystonia 161 test
Dystonia 241 test
Dystonia 251 test
Dystonia 271 test
Dystonia 28, childhood-onset1 test
Dystonia 91 test
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
Early-onset generalized limb-onset dystonia1 test
Early-onset Lafora body disease1 test
Early-onset myopathy with fatal cardiomyopathy1 test
Early-onset Parkinson disease 201 test
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type1 test
Ectodermal dysplasia 13, hair/tooth type1 test
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1 test
Ectodermal dysplasia 4, hair/nail type1 test
Ectodermal dysplasia 7, hair/nail type1 test
Ectodermal dysplasia 9, hair/nail type1 test
Ectodermal dysplasia and immunodeficiency 11 test
Ectodermal dysplasia and immunodeficiency 21 test
Ectodermal dysplasia-syndactyly syndrome 11 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
Ehlers-Danlos syndrome3 tests
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type, 11 test
Ehlers-Danlos syndrome, classic type, 21 test
Ehlers-Danlos syndrome, classic-like, 21 test
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
Ehlers-Danlos syndrome, musculocontractural type 11 test
Ehlers-Danlos syndrome, musculocontractural type 21 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, periodontal type 21 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
Ehlers-Danlos syndrome, type 41 test
Elevated circulating creatine kinase concentration1 test
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 61 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
Encephalopathy due to GLUT1 deficiency1 test
Encephalopathy with Epilepsy2 tests
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 71 test
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
Encephalopathy, acute, infection-induced, susceptibility to, 41 test
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
Endemic goiter1 test
Endove syndrome, limb-brain type1 test
Eosinophilic granulomatosis with polyangiitis1 test
EPB42-Related Hereditary Spherocytosi1 test
Epidermodysplasia verruciformis1 test
Epidermodysplasia verruciformis, susceptibility to, 21 test
Epidermodysplasia verruciformis, susceptibility to, 31 test
Epidermodysplasia verruciformis, susceptibility to, 41 test
Epidermodysplasia verruciformis, susceptibility to, 51 test
Epidermolysis bullosa simplex1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
Epilepsy, familial adult myoclonic, 11 test
Epilepsy, familial adult myoclonic, 21 test
Epilepsy, familial adult myoclonic, 51 test
Epilepsy, familial adult myoclonic, 61 test
Epilepsy, familial adult myoclonic, 71 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial focal, with variable foci 41 test
Epilepsy, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 101 test
Epilepsy, juvenile myoclonic, susceptibility to1 test
Epilepsy, progressive myoclonic 2A (Lafora)1 test
Epilepsy, progressive myoclonic 2B (Lafora)1 test
Epilepsy, progressive myoclonic, 1B2 tests
Epileptic encephalopathy, infantile or early childhood, 12 tests
Epileptic encephalopathy, infantile or early childhood, 22 tests
Epileptic encephalopathy, infantile or early childhood, 32 tests
Epiphyseal dysplasia, multiple, 21 test
Epiphyseal dysplasia, multiple, 31 test
Epiphyseal dysplasia, multiple, 61 test
Epiphyseal dysplasia, multiple, 71 test
Episodic ataxia type 12 tests
Episodic ataxia type 22 tests
Episodic ataxia type 51 test
Episodic ataxia type 61 test
Episodic kinesigenic dyskinesia 12 tests
Episodic pain syndrome, familial, 21 test
Epithelial basement membrane dystrophy1 test
Epsilon-trimethyllysine hydroxylase deficiency1 test
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Erythrocytosis, familial, 51 test
Erythrocytosis, familial, 61 test
Erythrocytosis, familial, 71 test
Erythrokeratodermia variabilis et progressiva 11 test
Erythrokeratodermia variabilis et progressiva 21 test
Erythrokeratodermia variabilis et progressiva 31 test
Erythrokeratodermia variabilis et progressiva 41 test
Erythrokeratodermia variabilis et progressiva 51 test
Erythropoietic protoporphyria2 tests
Ethylmalonic encephalopathy2 tests
Exercise intolerance, riboflavin-responsive1 test
Exercise-induced hyperinsulinism1 test
EXOSC3-Related Pontocerebellar Hypoplasia1 test
Extraskeletal myxoid chondrosarcoma1 test
Exudative retinopathy2 tests
Exudative vitreoretinopathy 11 test
Exudative vitreoretinopathy 2, X-linked3 tests
Exudative vitreoretinopathy 41 test
Exudative vitreoretinopathy 51 test
Exudative vitreoretinopathy 61 test
Exudative vitreoretinopathy 71 test
EZH2-Related Overgrowth1 test
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction1 test
Facial paresis, hereditary congenital, 31 test
Facioscapulohumeral muscular dystrophy1 test
Factor H deficiency1 test
Factor I deficiency1 test
Factor V and factor VIII, combined deficiency of, type 11 test
Factor VIII deficiency2 tests
Familial acute necrotizing encephalopathy2 tests
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 24 tests
Familial adenomatous polyposis 31 test
Familial adenomatous polyposis 41 test
Familial antiphospholipid syndrome1 test
Familial Atypical Hemolytic-Uremic Syndrome1 test
Familial cancer of breast1 test
Familial cavitary optic disk anomaly2 tests
Familial chronic mucocutaneous candidiasis1 test
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 31 test
Familial cold autoinflammatory syndrome 41 test
Familial colorectal cancer3 tests
Familial congenital nasolacrimal duct obstruction1 test
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
Familial cylindromatosis1 test
Familial digital arthropathy-brachydactyly1 test
Familial dysautonomia2 tests
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial episodic pain syndrome with predominantly upper body involvement1 test
Familial exudative vitreoretinopathy1 test
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial hemophagocytic lymphohistiocytosis 21 test
Familial hemophagocytic lymphohistiocytosis 31 test
Familial hemophagocytic lymphohistiocytosis 41 test
Familial hemophagocytic lymphohistiocytosis 51 test
Familial hemophagocytic lymphohistiocytosis type 11 test
Familial hyperaldosteronism type II1 test
Familial hyperaldosteronism type III1 test
Familial hypercholesterolemia1 test
Familial hyperinsulinism1 test
Familial hyperkalemic periodic paralysis1 test
Familial hypertrophic cardiomyopathy 223 tests
Familial hypertrophic cardiomyopathy 243 tests
Familial hypocalciuric hypercalcemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 31 test
Familial infantile myasthenia1 test
Familial infantile myoclonic epilepsy1 test
Familial isolated congenital asplenia1 test
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 13 tests
Familial juvenile hyperuricemic nephropathy type 21 test
Familial Mediterranean fever1 test
Familial pancreatic carcinoma2 tests
Familial partial lipodystrophy, Dunnigan type1 test
Familial porphyria cutanea tarda1 test
Familial primary hyperparathyroidism1 test
Familial prostate cancer2 tests
Familial pulmonary capillary hemangiomatosis1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
Familial temporal lobe epilepsy 51 test
Familial temporal lobe epilepsy 71 test
Familial temporal lobe epilepsy 81 test
Familial visceral amyloidosis, Ostertag type1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Fanconi anemia2 tests
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group B1 test
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group D11 test
Fanconi anemia complementation group D21 test
Fanconi anemia complementation group E1 test
Fanconi anemia complementation group F1 test
Fanconi anemia complementation group G1 test
Fanconi anemia complementation group I1 test
Fanconi anemia complementation group J1 test
Fanconi anemia complementation group L1 test
Fanconi anemia complementation group N1 test
Fanconi anemia complementation group O1 test
Fanconi anemia complementation group P1 test
Fanconi anemia complementation group Q1 test
Fanconi anemia complementation group R1 test
Fanconi anemia complementation group T1 test
Fanconi anemia complementation group U1 test
Fanconi anemia complementation group V1 test
Fanconi anemia, complementation group S1 test
Fanconi anemia, complementation group W1 test
Fanconi renotubular syndrome 21 test
Fanconi renotubular syndrome 31 test
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
Fatal infantile hypertonic myofibrillar myopathy1 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Fatty acid hydroxylase-associated neurodegeneration1 test
Febrile seizures, familial, 111 test
Febrile seizures, familial, 3a2 tests
Febrile seizures, familial, 3b2 tests
Febrile seizures, familial, 41 test
Febrile seizures, familial, 82 tests
Feingold syndrome1 test
Feingold syndrome type 11 test
Feingold syndrome type 21 test
Female infertility due to zona pellucida defect1 test
Fetal akinesia deformation sequence 11 test
Fetal akinesia deformation sequence 21 test
Fetal akinesia deformation sequence 31 test
Fetal akinesia deformation sequence 41 test
Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
FG syndrome 21 test
Fibrochondrogenesis 11 test
Fibrochondrogenesis 21 test
Fibromatosis, gingival, 11 test
Fibromatosis, gingival, 51 test
Fibrosis of extraocular muscles, congenital, 21 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
Fibrosis of extraocular muscles, congenital, 3b1 test
Fibrosis of extraocular muscles, congenital, 51 test
Fibrous dysplasia of jaw1 test
Finnish congenital nephrotic syndrome1 test
Finnish type amyloidosis1 test
Fleck corneal dystrophy1 test
Floating-Harbor syndrome1 test
Fluorouracil response1 test
Focal dermal hypoplasia2 tests
Focal facial dermal dysplasia type III1 test
Focal facial dermal dysplasia type IV1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 31 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 71 test
Focal segmental glomerulosclerosis 81 test
Focal segmental glomerulosclerosis 91 test
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
Foveal hypoplasia 11 test
Fraser syndrome 11 test
Fraser syndrome 21 test
Fraser syndrome 31 test
Freeman-Sheldon syndrome1 test
Friedreich ataxia2 tests
Frontometaphyseal dysplasia1 test
Frontometaphyseal dysplasia 11 test
Frontometaphyseal dysplasia 21 test
Frontonasal dysplasia1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
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 61 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 81 test
Frontotemporal lobar degeneration, TARDBP-related1 test
Full gene sequencing1 test
Fumarase deficiency1 test
Gallbladder disease 41 test
Galloway-Mowat syndrome 11 test
Galloway-Mowat syndrome 2, X-linked1 test
Galloway-Mowat syndrome 31 test
Galloway-Mowat syndrome 41 test
Galloway-Mowat syndrome 51 test
Galloway-Mowat syndrome 61 test
Galloway-Mowat syndrome 71 test
Galloway-Mowat syndrome 81 test
gamma-Glutamyltransferase deficiency1 test
Gardner syndrome1 test
GARS-Associated Axonal Neuropathy1 test
Gastrointestinal and Colorectal Cancer2 tests
GATA4-related disorder1 test
Gaze palsy, familial horizontal, with progressive scoliosis 11 test
Gaze palsy, familial horizontal, with progressive scoliosis, 21 test
GDAP1-Related Hereditary Motor and Sensory Neuropathy1 test
Gelatinous droplike corneal dystrophy1 test
Geleophysic dysplasia1 test
gene sequencing1 test
Generalized epilepsy with febrile seizures plus 32 tests
Generalized epilepsy with febrile seizures plus type 51 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 22 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy with febrile seizures plus, type 91 test
Genitopatellar syndrome1 test
Giant axonal neuropathy 11 test
Giant axonal neuropathy 21 test
Giant platelet disorder, isolated1 test
Gilbert syndrome, susceptibility to2 tests
Glanzmann thrombasthenia1 test
Glaucoma 3, primary infantile, B1 test
Glioma susceptibility 11 test
Glioma susceptibility 21 test
Glioma susceptibility 31 test
Glioma, susceptibility to, somatic1 test
Global developmental delay, progressive ataxia, and elevated glutamine1 test
Globozoospermia1 test
Glomerulopathy with fibronectin deposits 21 test
Glucocorticoid deficiency 11 test
Glucocorticoid deficiency 21 test
Glucocorticoid deficiency 41 test
Glucocorticoid deficiency 51 test
Glucocorticoid deficiency with achalasia1 test
Glucocorticoid-remediable aldosteronism1 test
GLUT1 deficiency syndrome2 tests
Glutamate pyruvate transaminase 2 deficiency1 test
Glycogen storage disease2 tests
Glycogen storage disease type 6, due to phosphorylation1 test
Glycogen storage disease type III1 test
Glycogen storage disease XV1 test
Glycogen storage disease, type I1 test
Glycogen storage disease, type IV2 tests
Glycogen storage disease, type V2 tests
Glycosylphosphatidylinositol biosynthesis defect 161 test
Glycosylphosphatidylinositol biosynthesis defect 181 test
GLYT1 Encephalopathy1 test
GM1 gangliosidosis2 tests
GNE myopathy1 test
Gordon syndrome1 test
Gorlin syndrome2 tests
Granulocytopenia with immunoglobulin abnormality1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31 test
Granulomatous disease, chronic, X-linked1 test
Gray platelet syndrome1 test
Grebe syndrome1 test
Greig cephalopolysyndactyly syndrome2 tests
GRIN2A-Related Speech Disorders and Epilepsy2 tests
GRIN2B Encephalopathy2 tests
Griscelli syndrome type 11 test
Griscelli syndrome type 21 test
Griscelli syndrome type 31 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Groenouw corneal dystrophy type I1 test
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1 test
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES1 test
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies1 test
Guttmacher syndrome1 test
Hand-foot-genital syndrome1 test
Hartsfield-Bixler-Demyer syndrome1 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hearing loss, autosomal dominant 711 test
Hearing loss, autosomal dominant 721 test
Hearing loss, autosomal dominant 731 test
Hearing loss, autosomal dominant 741 test
Hearing loss, autosomal recessive 1001 test
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1071 test
Hearing loss, autosomal recessive 1081 test
Hearing loss, autosomal recessive 1091 test
Hearing loss, autosomal recessive 1101 test
Hearing loss, autosomal recessive 1111 test
Hearing loss, autosomal recessive 1121 test
Hearing loss, autosomal recessive 1131 test
Hearing loss, autosomal recessive 1141 test
Hearing loss, autosomal recessive 1151 test
Hearing loss, autosomal recessive 571 test
Hearing loss, autosomal recessive 941 test
Hearing loss, X-linked 11 test
Hearing loss, X-linked 41 test
Hearing loss, X-linked 61 test
Heart block, nonprogressive1 test
Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
Hecht syndrome1 test
Heimler syndrome 11 test
Heimler syndrome 21 test
Hematologic disorder1 test
Hematologic neoplasm2 tests
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemochromatosis type 51 test
Hemolytic uremic syndrome, atypical, susceptibility to1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hemophagocytic lymphohistiocytosis, familial, 61 test
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hennekam lymphangiectasia-lymphedema syndrome 21 test
Hennekam lymphangiectasia-lymphedema syndrome 31 test
Heparin cofactor II deficiency1 test
Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11 test
Hepatoerythropoietic porphyria2 tests
Hereditary acrodermatitis enteropathica1 test
Hereditary angioedema type 31 test
Hereditary antithrombin deficiency1 test
Hereditary arterial and articular multiple calcification syndrome1 test
Hereditary breast ovarian cancer syndrome6 tests
Hereditary cancer-predisposing syndrome2 tests
Hereditary coproporphyria1 test
Hereditary disease35 tests
Hereditary factor IX deficiency disease1 test
Hereditary fructosuria2 tests
Hereditary hemochromatosis3 tests
Hereditary hyperekplexia2 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer2 tests
Hereditary liability to pressure palsies2 tests
Hereditary lymphedema type I2 tests
Hereditary nonpolyposis colon cancer13 tests
Hereditary pancreatitis1 test
Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
Hereditary pheochromocytoma-paraganglioma1 test
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1 test
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary sensory and autonomic neuropathy type 22 tests
Hereditary sensory and autonomic neuropathy type 61 test
Hereditary sensory and autonomic neuropathy type 71 test
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia2 tests
Hereditary spastic paraplegia 101 test
Hereditary spastic paraplegia 112 tests
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 172 tests
Hereditary spastic paraplegia 181 test
Hereditary spastic paraplegia 22 tests
Hereditary spastic paraplegia 231 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 281 test
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 311 test
Hereditary spastic paraplegia 331 test
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 392 tests
Hereditary spastic paraplegia 3A3 tests
Hereditary spastic paraplegia 43 tests
Hereditary spastic paraplegia 421 test
Hereditary spastic paraplegia 431 test
Hereditary spastic paraplegia 441 test
Hereditary spastic paraplegia 451 test
Hereditary spastic paraplegia 461 test
Hereditary spastic paraplegia 471 test
Hereditary spastic paraplegia 481 test
Hereditary spastic paraplegia 491 test
Hereditary spastic paraplegia 501 test
Hereditary spastic paraplegia 511 test
Hereditary spastic paraplegia 531 test
Hereditary spastic paraplegia 541 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 561 test
Hereditary spastic paraplegia 571 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 611 test
Hereditary spastic paraplegia 621 test
Hereditary spastic paraplegia 631 test
Hereditary spastic paraplegia 641 test
Hereditary spastic paraplegia 73 tests
Hereditary spastic paraplegia 731 test
Hereditary spastic paraplegia 741 test
Hereditary spastic paraplegia 751 test
Hereditary spastic paraplegia 771 test
Hereditary spastic paraplegia 82 tests
Hereditary spastic paraplegia 9A1 test
Hereditary xanthinuria type 11 test
Heritable Thoracic Aortic Disease1 test
Hermansky-Pudlak syndrome 11 test
Hermansky-Pudlak syndrome 101 test
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 31 test
Hermansky-Pudlak syndrome 41 test
Hermansky-Pudlak syndrome 51 test
Hermansky-Pudlak syndrome 61 test
Hermansky-Pudlak syndrome 71 test
Hermansky-Pudlak syndrome 81 test
Hermansky-Pudlak syndrome 91 test
Herpes simplex encephalitis, susceptibility to, 11 test
Herpes simplex encephalitis, susceptibility to, 21 test
Herpes simplex encephalitis, susceptibility to, 31 test
Herpes simplex encephalitis, susceptibility to, 41 test
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 5, autosomal1 test
Heterotaxy, visceral, 6, autosomal1 test
Heterotaxy, visceral, 7, autosomal1 test
Heterotaxy, visceral, 8, autosomal1 test
Heterotopia, periventricular, X-linked dominant1 test
HFE hemochromatosis, modifier of1 test
Hidrotic ectodermal dysplasia syndrome1 test
High myopia-sensorineural deafness syndrome1 test
Hip dysplasia, Beukes type1 test
Hirschsprung disease, protection against1 test
Hirschsprung disease, susceptibility to, 11 test
Hirschsprung disease, susceptibility to, 21 test
Hirschsprung disease, susceptibility to, 31 test
Hirschsprung disease, susceptibility to, 41 test
Hogue-Janssens syndrome 11 test
Holoprosencephaly sequence1 test
Holt-Oram syndrome2 tests
Houge-Janssens syndrome 21 test
HSD10 mitochondrial disease1 test
Human HOXA1 syndromes1 test
Humerofemoral hypoplasia with radiotibial ray deficiency1 test
Huntington disease-like 21 test
Huppke-Brendel syndrome1 test
Hurler syndrome1 test
Hutchinson-Gilford progeria syndrome, childhood-onset2 tests
Hydatidiform mole, recurrent, 11 test
Hydatidiform mole, recurrent, 21 test
Hydatidiform mole, recurrent, 31 test
Hydatidiform mole, recurrent, 41 test
Hydranencephaly with abnormal genitalia1 test
Hydrocephalus due to aqueductal stenosis1 test
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction1 test
Hydrocephalus with Hirschsprung disease1 test
Hydrocephalus, congenital, 3, with brain anomalies1 test
Hydrocephalus, nonsyndromic, autosomal recessive 11 test
Hydrocephalus, nonsyndromic, autosomal recessive 21 test
Hydrolethalus syndrome1 test
Hydrolethalus syndrome 21 test
Hydroxykynureninuria1 test
Hyper-IgE recurrent infection syndrome 3, autosomal recessive1 test
Hyper-IgE syndrome1 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 31 test
Hyper-IgM syndrome type 51 test
Hyperaldosteronism, familial, type IV1 test
Hypercalcemia, infantile, 11 test
Hypercalcemia, infantile, 21 test
Hyperekplexia 11 test
Hyperekplexia 21 test
Hyperekplexia 31 test
Hyperekplexia 41 test
Hyperfibrinolysis, familial, due to increased release of PLAT1 test
Hyperimmunoglobulin M syndrome2 tests
Hyperinsulinemic hypoglycemia, familial, 11 test
Hyperinsulinemic hypoglycemia, familial, 21 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency1 test
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type I2 tests
Hypermanganesemia with dystonia 22 tests
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperostosis cranialis interna1 test
Hyperparathyroidism 2 with jaw tumors1 test
Hyperparathyroidism 41 test
Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria1 test
Hyperparathyroidism, transient neonatal1 test
Hyperphosphatasemia tarda1 test
Hyperphosphatasemia with bone disease1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hyperphosphatasia with intellectual disability syndrome 31 test
Hyperphosphatasia with intellectual disability syndrome 41 test
Hyperphosphatasia with intellectual disability syndrome 51 test
Hyperphosphatasia with intellectual disability syndrome 61 test
Hyperplasia of the Leydig cells1 test
Hypertension, pregnancy-induced, susceptibility to1 test
Hypertrichosis, congenital generalized, with gingival hyperplasia1 test
Hypertriiodothyroninemia, familial dysalbuminemic1 test
Hypertrophic cardiomyopathy 11 test
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 41 test
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 91 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
Hyperuricemic nephropathy, familial juvenile type 41 test
Hypervalinemia and hyperleucine-isoleucinemia1 test
Hypocalcemia, autosomal dominant, with Bartter syndrome1 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
Hypogonadotropic hypogonadism 10 with or without anosmia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
Hypogonadotropic hypogonadism 12 with or without anosmia1 test
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 15 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia1 test
Hypogonadotropic hypogonadism 17 with or without anosmia1 test
Hypogonadotropic hypogonadism 18 with or without anosmia1 test
Hypogonadotropic hypogonadism 19 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
Hypogonadotropic hypogonadism 20 with or without anosmia1 test
Hypogonadotropic hypogonadism 21 with or without anosmia1 test
Hypogonadotropic hypogonadism 22 with or without anosmia1 test
Hypogonadotropic hypogonadism 24 without anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia2 tests
Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
Hypogonadotropic hypogonadism 6 with or without anosmia2 tests
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypokalemic periodic paralysis1 test
Hypomagnesemia, seizures, and intellectual disability 11 test
Hypomagnesemia, seizures, and intellectual disability 21 test
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
Hypomyelinating leukodystrophy 101 test
Hypomyelinating leukodystrophy 111 test
Hypomyelinating leukodystrophy 121 test
Hypomyelinating leukodystrophy 131 test
Hypomyelinating leukodystrophy 21 test
Hypomyelinating leukodystrophy 31 test
Hypomyelinating leukodystrophy 41 test
Hypomyelinating leukodystrophy 61 test
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
Hypomyelinating leukodystrophy 91 test
Hypomyelinating neuropathy, congenital, 12 tests
Hypomyelination and Congenital Cataract2 tests
Hypophosphatasia2 tests
Hypophosphatemic nephrolithiasis/osteoporosis 11 test
Hypophosphatemic nephrolithiasis/osteoporosis 21 test
Hypophosphatemic rickets1 test
Hypophosphatemic rickets, AR1 test
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypoplastic left heart syndrome 21 test
Hypoproteinemia, hypercatabolic1 test
Hypospadias 1, X-linked1 test
Hypospadias 2, X-linked1 test
Hypothyroidism due to TSH receptor mutations1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotonia with lactic acidemia and hyperammonemia1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
Hypotrichosis 11 test
Hypotrichosis 111 test
Hypotrichosis 121 test
Hypotrichosis 131 test
Hypotrichosis 141 test
Hypotrichosis 21 test
Hypotrichosis 31 test
Hypotrichosis 41 test
Hypotrichosis 61 test
Hypotrichosis 71 test
Hypotrichosis 81 test
Ichthyosis, congenital, autosomal recessive 121 test
Ichthyosis, congenital, autosomal recessive 131 test
Ichthyosis, congenital, autosomal recessive 141 test
Idiopathic basal ganglia calcification 13 tests
Idiopathic CD4 lymphocytopenia1 test
Idiopathic gastroparesis1 test
IgA nephropathy, susceptibility to, 11 test
IgA nephropathy, susceptibility to, 31 test
IL21-related infantile inflammatory bowel disease1 test
IMAGe syndrome1 test
Immunodeficiency 11b with atopic dermatitis1 test
Immunodeficiency 141 test
Immunodeficiency 15a1 test
Immunodeficiency 181 test
Immunodeficiency 18, severe combined immunodeficiency variant1 test
Immunodeficiency 191 test
Immunodeficiency 231 test
Immunodeficiency 251 test
Immunodeficiency 27A1 test
Immunodeficiency 281 test
Immunodeficiency 31B1 test
Immunodeficiency 31C, autosomal dominant2 tests
Immunodeficiency 32B1 test
Immunodeficiency 332 tests
Immunodeficiency 351 test
Immunodeficiency 361 test
Immunodeficiency 371 test
Immunodeficiency 391 test
Immunodeficiency 451 test
Immunodeficiency 471 test
Immunodeficiency 491 test
Immunodeficiency 511 test
Immunodeficiency 531 test
Immunodeficiency 571 test
Immunodeficiency 601 test
Immunodeficiency 611 test
Immunodeficiency 621 test
Immunodeficiency due to CD25 deficiency1 test
Immunodeficiency due to ficolin3 deficiency1 test
Immunodeficiency due to MASP-2 deficiency1 test
Immunodeficiency, common variable, 11 test
Immunodeficiency, common variable, 101 test
Immunodeficiency, common variable, 121 test
Immunodeficiency, common variable, 141 test
Immunodeficiency, common variable, 21 test
Immunodeficiency, common variable, 31 test
Immunodeficiency, common variable, 41 test
Immunodeficiency, common variable, 51 test
Immunodeficiency, common variable, 61 test
Immunodeficiency, common variable, 71 test
Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome1 test
Immunodeficiency, X-linked, with hyper-IgM2 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21 test
Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 31 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia1 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Incontinentia pigmenti syndrome1 test
Indifference to pain, congenital, autosomal dominant1 test
Infantile bilateral striatal necrosis1 test
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development1 test
Infantile convulsions and choreoathetosis1 test
Infantile cortical hyperostosis1 test
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1 test
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1 test
Infantile liver failure syndrome 11 test
Infantile liver failure syndrome 21 test
Infantile nephronophthisis1 test
Infantile neuroaxonal dystrophy2 tests
Infantile onset spinocerebellar ataxia2 tests
Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
Infertility due to oligospermia1 test
Inflammatory bowel disease 11 test
Inflammatory bowel disease 101 test
Inflammatory bowel disease 131 test
Inflammatory bowel disease 141 test
Inflammatory bowel disease 17, protection against1 test
Inflammatory bowel disease 191 test
Inflammatory bowel disease 251 test
Inflammatory bowel disease 281 test
Inflammatory bowel disease 291 test
Inflammatory skin and bowel disease, neonatal, 11 test
Inflammatory skin and bowel disease, neonatal, 21 test
Insulin resistance, severe, digenic1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual developmental disorder with autism and macrocephaly1 test
Intellectual developmental disorder, autosomal recessive 671 test
Intellectual developmental disorder, autosomal recessive 681 test
Intellectual developmental disorder, autosomal recessive 691 test
Intellectual developmental disorder, autosomal recessive 701 test
Intellectual developmental disorder, autosomal recessive 741 test
Intellectual developmental disorder, X-linked 1081 test
Intellectual developmental disorder, X-linked, syndromic 161 test
Intellectual disability1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 101 test
Intellectual disability, autosomal dominant 111 test
Intellectual disability, autosomal dominant 131 test
Intellectual disability, autosomal dominant 142 tests
Intellectual disability, autosomal dominant 152 tests
Intellectual disability, autosomal dominant 162 tests
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 221 test
Intellectual disability, autosomal dominant 241 test
Intellectual disability, autosomal dominant 271 test
Intellectual disability, autosomal dominant 291 test
Intellectual disability, autosomal dominant 31 test
Intellectual disability, autosomal dominant 301 test
Intellectual disability, autosomal dominant 331 test
Intellectual disability, autosomal dominant 341 test
Intellectual disability, autosomal dominant 381 test
Intellectual disability, autosomal dominant 391 test
Intellectual disability, autosomal dominant 401 test
Intellectual disability, autosomal dominant 411 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 431 test
Intellectual disability, autosomal dominant 451 test
Intellectual disability, autosomal dominant 461 test
Intellectual disability, autosomal dominant 471 test
Intellectual disability, autosomal dominant 481 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 501 test
Intellectual disability, autosomal dominant 511 test
Intellectual disability, autosomal dominant 521 test
Intellectual disability, autosomal dominant 531 test
Intellectual disability, autosomal dominant 541 test
Intellectual disability, autosomal dominant 55, with seizures1 test
Intellectual disability, autosomal dominant 561 test
Intellectual disability, autosomal dominant 571 test
Intellectual disability, autosomal dominant 581 test
Intellectual disability, autosomal dominant 61 test
Intellectual disability, autosomal dominant 91 test
Intellectual disability, autosomal recessive 11 test
Intellectual disability, autosomal recessive 121 test
Intellectual disability, autosomal recessive 131 test
Intellectual disability, autosomal recessive 141 test
Intellectual disability, autosomal recessive 181 test
Intellectual disability, autosomal recessive 21 test
Intellectual disability, autosomal recessive 271 test
Intellectual disability, autosomal recessive 31 test
Intellectual disability, autosomal recessive 341 test
Intellectual disability, autosomal recessive 421 test
Intellectual disability, autosomal recessive 431 test
Intellectual disability, autosomal recessive 441 test
Intellectual disability, autosomal recessive 451 test
Intellectual disability, autosomal recessive 461 test
Intellectual disability, autosomal recessive 471 test
Intellectual disability, autosomal recessive 51 test
Intellectual disability, autosomal recessive 501 test
Intellectual disability, autosomal recessive 511 test
Intellectual disability, autosomal recessive 521 test
Intellectual disability, autosomal recessive 531 test
Intellectual disability, autosomal recessive 541 test
Intellectual disability, autosomal recessive 561 test
Intellectual disability, autosomal recessive 571 test
Intellectual disability, autosomal recessive 581 test
Intellectual disability, autosomal recessive 591 test
Intellectual disability, autosomal recessive 61 test
Intellectual disability, autosomal recessive 601 test
Intellectual disability, autosomal recessive 611 test
Intellectual disability, autosomal recessive 631 test
Intellectual disability, autosomal recessive 641 test
Intellectual disability, autosomal recessive 651 test
Intellectual disability, autosomal recessive 661 test
Intellectual disability, autosomal recessive 71 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 1001 test
Intellectual disability, X-linked 1011 test
Intellectual disability, X-linked 1021 test
Intellectual disability, X-linked 1031 test
Intellectual disability, X-linked 1041 test
Intellectual disability, X-linked 1051 test
Intellectual disability, X-linked 1061 test
Intellectual disability, X-linked 1071 test
Intellectual disability, X-linked 191 test
Intellectual disability, X-linked 211 test
Intellectual disability, X-linked 301 test
Intellectual disability, X-linked 411 test
Intellectual disability, X-linked 491 test
Intellectual disability, X-linked 581 test
Intellectual disability, X-linked 611 test
Intellectual disability, X-linked 631 test
Intellectual disability, X-linked 721 test
Intellectual disability, X-linked 91 test
Intellectual disability, X-linked 901 test
Intellectual disability, X-linked 911 test
Intellectual disability, X-linked 931 test
Intellectual disability, X-linked 961 test
Intellectual disability, X-linked 971 test
Intellectual disability, X-linked 991 test
Intellectual disability, X-linked 99, syndromic, female-restricted1 test
Intellectual disability, X-linked syndromic, Turner type1 test
Intellectual disability, X-linked, syndromic 331 test
Intellectual disability, X-linked, syndromic, 351 test
Intellectual disability, X-linked, syndromic, Bain type1 test
Intellectual disability, X-linked, syndromic, Houge type1 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1 test
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1 test
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1 test
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1 test
Intellectual disability-strabismus syndrome1 test
Interstitial lung disease due to ABCA3 deficiency1 test
Intestinal hypomagnesemia 11 test
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies1 test
Invasive pneumococcal disease, protection against1 test
Invasive pneumococcal disease, recurrent isolated1 test
Isolated anhidrosis with normal sweat glands1 test
Isolated congenital digital clubbing1 test
Isolated coronal synostosis1 test
Isolated cryptophthalmia1 test
Isolated focal non-epidermolytic palmoplantar keratoderma1 test
Isolated growth hormone deficiency type IB1 test
Isolated growth hormone deficiency, type 41 test
Isolated growth hormone deficiency, type 51 test
isolated hypomyelination1 test
Isolated lutropin deficiency1 test
Isolated microphthalmia 21 test
Isolated microphthalmia 31 test
Isolated microphthalmia 41 test
Isolated microphthalmia 51 test
Isolated microphthalmia 61 test
Isolated microphthalmia 71 test
Isolated microphthalmia 81 test
Isolated thyroid-stimulating hormone deficiency1 test
Jackson-Weiss syndrome1 test
Jervell and Lange-Nielsen syndrome1 test
Joubert syndrome 11 test
Joubert syndrome 101 test
Joubert syndrome 121 test
Joubert syndrome 131 test
Joubert syndrome 141 test
Joubert syndrome 151 test
Joubert syndrome 161 test
Joubert syndrome 171 test
Joubert syndrome 181 test
Joubert syndrome 192 tests
Joubert syndrome 21 test
Joubert syndrome 201 test
Joubert syndrome 211 test
Joubert syndrome 221 test
Joubert syndrome 231 test
Joubert syndrome 241 test
Joubert syndrome 251 test
Joubert syndrome 261 test
Joubert syndrome 271 test
Joubert syndrome 281 test
Joubert syndrome 292 tests
Joubert syndrome 31 test
Joubert syndrome 301 test
Joubert syndrome 311 test
Joubert syndrome 321 test
Joubert syndrome 331 test
Joubert syndrome 342 tests
Joubert syndrome 351 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome 91 test
Joubert syndrome with renal defect1 test
Junctional epidermolysis bullosa1 test
Juvenile cataract-microcornea-renal glucosuria syndrome1 test
Juvenile hemochromatosis1 test
Juvenile hyaline fibromatosis1 test
Juvenile myelomonocytic leukemia1 test
Juvenile nephropathic cystinosis1 test
Juvenile onset Parkinson disease 19A1 test
Juvenile retinoschisis2 tests
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kartagener syndrome1 test
KCNQ3-related developmental disability2 tests
Keratoconus 11 test
Keratoconus 91 test
Keratosis follicularis1 test
Keratosis pilaris atrophicans1 test
Kindler syndrome2 tests
King Denborough syndrome1 test
Kleefstra syndrome 12 tests
Kleefstra syndrome 21 test
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1 test
Klippel-Feil syndrome 1, autosomal dominant1 test
Klippel-Feil syndrome 2, autosomal recessive1 test
Klippel-Feil syndrome 3, autosomal dominant1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Koolen-de Vries syndrome2 tests
Kostmann syndrome1 test
Kufor-Rakeb syndrome1 test
Lactic aciduria due to D-lactic acid1 test
Lacticacidemia due to PDX1 deficiency1 test
Lafora disease1 test
LAMB2-related infantile-onset nephrotic syndrome1 test
Larsen syndrome1 test
Lateral meningocele syndrome1 test
Lattice corneal dystrophy Type I1 test
Laurence-Moon syndrome1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 101 test
Leber congenital amaurosis 111 test
Leber congenital amaurosis 121 test
Leber congenital amaurosis 132 tests
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 171 test
Leber congenital amaurosis 182 tests
Leber congenital amaurosis 21 test
Leber congenital amaurosis 31 test
Leber congenital amaurosis 41 test
Leber congenital amaurosis 51 test
Leber congenital amaurosis 61 test
Leber congenital amaurosis 71 test
Leber congenital amaurosis 81 test
Leber congenital amaurosis 91 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 102 tests
Left Ventricular Noncompaction 3, with or without Dilated Cardiomyopathy3 tests
Left ventricular noncompaction 42 tests
Left ventricular noncompaction 52 tests
Left ventricular noncompaction 71 test
Left ventricular noncompaction 82 tests
Left ventricular noncompaction 92 tests
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Lessel-kubisch syndrome1 test
Lethal arthrogryposis-anterior horn cell disease syndrome1 test
Lethal congenital contracture syndrome 11 test
Lethal congenital contracture syndrome 111 test
Lethal congenital contracture syndrome 21 test
Lethal congenital contracture syndrome 31 test
Lethal congenital contracture syndrome 41 test
Lethal congenital contracture syndrome 61 test
Lethal congenital contracture syndrome 71 test
Lethal congenital contracture syndrome 81 test
Lethal congenital contracture syndrome 91 test
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1 test
Leukemia, acute myeloid, susceptibility to1 test
Leukocyte adhesion deficiency type II2 tests
Leukodystrophy1 test
Leukodystrophy, hypomyelinating, 141 test
Leukodystrophy, hypomyelinating, 151 test
Leukodystrophy, hypomyelinating, 161 test
Leukodystrophy, hypomyelinating, 171 test
Leukodystrophy, hypomyelinating, 181 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
Lewy body dementia1 test
Lhermitte-Duclos disease1 test
Li-Fraumeni syndrome3 tests
Lichtenstein-Knorr syndrome1 test
Liddle syndrome 11 test
Liddle syndrome 21 test
Liddle syndrome 31 test
Limb-girdle muscular dystrophy due to POMK deficiency1 test
Linear skin defects with multiple congenital anomalies 12 tests
Linear skin defects with multiple congenital anomalies 21 test
Linear skin defects with multiple congenital anomalies 31 test
LIPE-related familial partial lipodystrophy2 tests
Lipid proteinosis1 test
Lipoic acid synthetase deficiency1 test
Lissencephaly 41 test
Lissencephaly 6 with microcephaly1 test
Lissencephaly 7 with cerebellar hypoplasia1 test
Lissencephaly 81 test
Lissencephaly 9 with complex brainstem malformation1 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Lissencephaly type 31 test
Loeys-Dietz syndrome1 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 41 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Long QT syndrome 11 test
Long QT syndrome 102 tests
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 141 test
Long QT syndrome 151 test
Long QT syndrome 21 test
Long QT syndrome 31 test
Long QT syndrome 41 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 91 test
Long QT syndrome, acquired, reduced susceptibility to1 test
Low phospholipid associated cholelithiasis1 test
Lucey-Driscoll syndrome1 test
Lung carcinoid tumor1 test
Lung carcinoma1 test
Lymphatic malformation 31 test
Lymphatic malformation 41 test
Lymphatic malformation 61 test
Lymphatic malformation 71 test
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
Lymphedema-posterior choanal atresia syndrome1 test
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 21 test
Lysinuric protein intolerance2 tests
Macrocephaly-developmental delay syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
Macular degeneration, age-related, 13, susceptibility to1 test
Macular degeneration, age-related, 31 test
Macular degeneration, age-related, neovascular type}1 test
Majeed syndrome1 test
Malan overgrowth syndrome1 test
Malignant hyperthermia, susceptibility to, 11 test
Malignant hyperthermia, susceptibility to, 51 test
Malignant neoplasm of endocrine gland2 tests
Malignant tumor of kidney2 tests
Malignant tumor of prostate1 test
Mandibuloacral dysplasia1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Mandibulofacial dysostosis-microcephaly syndrome2 tests
Mannose-binding lectin deficiency1 test
Maple syrup urine disease1 test
Maple syrup urine disease type 1A1 test
Maple syrup urine disease type 1B1 test
Maple syrup urine disease type 21 test
Maple syrup urine disease, mild variant1 test
Marden-Walker syndrome1 test
MASA syndrome2 tests
Mast syndrome1 test
Matthew-Wood syndrome2 tests
McCune-Albright syndrome1 test
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome2 tests
Meckel syndrome 132 tests
Meckel syndrome, type 11 test
Meckel syndrome, type 102 tests
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 41 test
Meckel syndrome, type 51 test
Meckel syndrome, type 61 test
Meckel syndrome, type 81 test
Meckel syndrome, type 91 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Megacystis-microcolon-intestinal hypoperistalsis syndrome 31 test
Megacystis-microcolon-intestinal hypoperistalsis syndrome 41 test
Megalencephalic leukoencephalopathy with subcortical cysts3 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A1 test
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
MEGF8-related Carpenter syndrome1 test
MEHMO syndrome1 test
Meier-Gorlin syndrome 11 test
Meier-Gorlin syndrome 21 test
Meier-Gorlin syndrome 31 test
Meier-Gorlin syndrome 41 test
Meier-Gorlin syndrome 51 test
Meier-Gorlin syndrome 61 test
Meier-Gorlin syndrome 71 test
Meier-Gorlin syndrome 81 test
Melanoma2 tests
Melanoma, cutaneous malignant, susceptibility to, 21 test
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma, cutaneous malignant, susceptibility to, 51 test
Melanoma, cutaneous malignant, susceptibility to, 61 test
Melanoma, cutaneous malignant, susceptibility to, 81 test
Melanoma, cutaneous malignant, susceptibility to, 91 test
Melanoma-pancreatic cancer syndrome2 tests
Melnick-Fraser syndrome1 test
Melnick-Needles syndrome1 test
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
Menke-Hennekam syndrome 11 test
Menke-Hennekam syndrome 21 test
Metaphyseal chondrodysplasia, McKusick type1 test
Metatropic dysplasia1 test
Methylmalonic acidemia1 test
Methylmalonic acidemia with homocystinuria, type cblX1 test
MGAT2-congenital disorder of glycosylation2 tests
MHC class I deficiency1 test
MHC class II deficiency 31 test
MHC class II deficiency 41 test
MHC class II deficiency 51 test
Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
Microcephalic primordial dwarfism, Alazami type1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 11, primary, autosomal recessive1 test
Microcephaly 12, primary, autosomal recessive1 test
Microcephaly 13, primary, autosomal recessive1 test
Microcephaly 14, primary, autosomal recessive1 test
Microcephaly 15, primary, autosomal recessive1 test
Microcephaly 16, primary, autosomal recessive1 test
Microcephaly 17, primary, autosomal recessive1 test
Microcephaly 18, primary, autosomal dominant2 tests
Microcephaly 19, primary, autosomal recessive1 test
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1 test
Microcephaly 20, primary, autosomal recessive1 test
Microcephaly 21, primary, autosomal recessive1 test
Microcephaly 22, primary, autosomal recessive1 test
Microcephaly 23, primary, autosomal recessive1 test
Microcephaly 24, primary, autosomal recessive1 test
Microcephaly 25, primary, autosomal recessive1 test
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly 4, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive1 test
Microcephaly 6, primary, autosomal recessive1 test
Microcephaly 7, primary, autosomal recessive1 test
Microcephaly 8, primary, autosomal recessive1 test
Microcephaly 9, primary, autosomal recessive1 test
Microcephaly and chorioretinopathy 11 test
Microcephaly and chorioretinopathy 21 test
Microcephaly and chorioretinopathy 31 test
Microcephaly with Polymicrogyria1 test
Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcephaly, seizures, and developmental delay1 test
Microcephaly-capillary malformation syndrome1 test
Microcephaly-thin corpus callosum-intellectual disability syndrome1 test
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 11 test
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 21 test
Microcytic anemia with liver iron overload1 test
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1 test
Microphthalmia with brain and digit anomalies1 test
Microphthalmia with coloboma 31 test
Microphthalmia, isolated, with coloboma 101 test
Microphthalmia, isolated, with coloboma 51 test
Microphthalmia, isolated, with coloboma 61 test
Microphthalmia, isolated, with coloboma 71 test
Microphthalmia, isolated, with coloboma 82 tests
Microphthalmia, isolated, with coloboma 91 test
Microphthalmia, syndromic 12 tests
Microphthalmia, syndromic 111 test
Microphthalmia, syndromic 121 test
Microvascular complications of diabetes, susceptibility to, 11 test
Microvascular complications of diabetes, susceptibility to, 21 test
Microvascular complications of diabetes, susceptibility to, 31 test
Microvascular complications of diabetes, susceptibility to, 41 test
Microvascular complications of diabetes, susceptibility to, 51 test
Microvascular complications of diabetes, susceptibility to, 61 test
Microvascular complications of diabetes, susceptibility to, 71 test
Mild late-onset parkinsonism1 test
Mirror movements 1 and/or agenesis of the corpus callosum1 test
Mirror movements 21 test
Mirror movements 31 test
Mirror movements 41 test
Mitochondrial complex 1 deficiency, nuclear type 101 test
Mitochondrial complex 1 deficiency, nuclear type 111 test
Mitochondrial complex 1 deficiency, nuclear type 121 test
Mitochondrial complex 1 deficiency, nuclear type 131 test
Mitochondrial complex 1 deficiency, nuclear type 141 test
Mitochondrial complex 1 deficiency, nuclear type 151 test
Mitochondrial complex 1 deficiency, nuclear type 161 test
Mitochondrial complex 1 deficiency, nuclear type 171 test
Mitochondrial complex 1 deficiency, nuclear type 181 test
Mitochondrial complex 1 deficiency, nuclear type 191 test
Mitochondrial complex 1 deficiency, nuclear type 21 test
Mitochondrial complex 1 deficiency, nuclear type 211 test
Mitochondrial complex 1 deficiency, nuclear type 221 test
Mitochondrial complex 1 deficiency, nuclear type 231 test
Mitochondrial complex 1 deficiency, nuclear type 241 test
Mitochondrial complex 1 deficiency, nuclear type 251 test
Mitochondrial complex 1 deficiency, nuclear type 261 test
Mitochondrial complex 1 deficiency, nuclear type 271 test
Mitochondrial complex 1 deficiency, nuclear type 281 test
Mitochondrial complex 1 deficiency, nuclear type 291 test
Mitochondrial complex 1 deficiency, nuclear type 31 test
Mitochondrial complex 1 deficiency, nuclear type 301 test
Mitochondrial complex 1 deficiency, nuclear type 311 test
Mitochondrial complex 1 deficiency, nuclear type 321 test
Mitochondrial complex 1 deficiency, nuclear type 331 test
Mitochondrial complex 1 deficiency, nuclear type 41 test
Mitochondrial complex 1 deficiency, nuclear type 51 test
Mitochondrial complex 1 deficiency, nuclear type 61 test
Mitochondrial complex 1 deficiency, nuclear type 71 test
Mitochondrial complex 1 deficiency, nuclear type 81 test
Mitochondrial complex 1 deficiency, nuclear type 91 test
Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 51 test
Mitochondrial complex I deficiency, nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 21 test
Mitochondrial complex III deficiency nuclear type 31 test
Mitochondrial complex III deficiency nuclear type 41 test
Mitochondrial complex III deficiency nuclear type 51 test
Mitochondrial complex III deficiency nuclear type 61 test
Mitochondrial complex III deficiency nuclear type 71 test
Mitochondrial complex III deficiency nuclear type 81 test
Mitochondrial complex III deficiency nuclear type 91 test
Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
Mitochondrial complex V (ATP synthase) deficiency nuclear type 31 test
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B1 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
Mitochondrial DNA deletion syndrome with progressive myopathy1 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial DNA depletion syndrome 111 test
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 132 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 8a2 tests
Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial DNA depletion syndrome, myopathic form3 tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
Mitochondrial neurogastrointestinal encephalomyopathy2 tests
Mitral valve prolapse, myxomatous 21 test
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 21 test
Miyoshi muscular dystrophy 31 test
MOGS-congenital disorder of glycosylation2 tests
Monoclonal mast cell activation syndrome1 test
Monocytopenia with susceptibility to infections1 test
Morning glory disc anomaly1 test
Mosaic variegated aneuploidy syndrome 11 test
Mosaic variegated aneuploidy syndrome 21 test
Mosaic variegated aneuploidy syndrome 31 test
Moyamoya disease 21 test
Moyamoya disease 51 test
Moyamoya disease with early-onset achalasia1 test
MPDU1-congenital disorder of glycosylation1 test
MPI-congenital disorder of glycosylation1 test
Mucocutaneous ulceration, chronic1 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-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-IV-A1 test
Mucopolysaccharidosis, MPS-IV-B3 tests
Muenke syndrome3 tests
Multicentric osteolysis nodulosis arthropathy spectrum1 test
Multiminicore myopathy1 test
Multiple benign circumferential skin creases on limbs 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple congenital exostosis2 tests
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 13 tests
Multiple endocrine neoplasia, type 22 tests
Multiple epiphyseal dysplasia type 11 test
Multiple epiphyseal dysplasia type 41 test
Multiple epiphyseal dysplasia type 51 test
Multiple epiphyseal dysplasia, Al-Gazali type1 test
Multiple mitochondrial dysfunctions syndrome 11 test
Multiple mitochondrial dysfunctions syndrome 21 test
Multiple mitochondrial dysfunctions syndrome 31 test
Multiple mitochondrial dysfunctions syndrome 41 test
Multiple mitochondrial dysfunctions syndrome 51 test
Multiple mitochondrial dysfunctions syndrome 61 test
Multiple sclerosis modifier of disease progression1 test
Multiple sclerosis, susceptibility to1 test
Multiple sclerosis, susceptibility to, 51 test
Multiple synostoses syndrome 21 test
Multiple synostoses syndrome 31 test
Multiple synostoses syndrome 41 test
Mungan syndrome1 test
Muscular dystrophy, limb-girdle, autosomal dominant 41 test
Muscular dystrophy, limb-girdle, autosomal recessive 231 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
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 A51 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
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 B41 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 82 tests
Muscular dystrophy-dystroglycanopathy type B51 test
Muscular dystrophy-dystroglycanopathy type B61 test
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myasthenic syndrome, congenital, 221 test
Myasthenic syndrome, congenital, 23, presynaptic1 test
Myasthenic syndrome, congenital, 24, presynaptic1 test
Myasthenic syndrome, congenital, 25, presynaptic1 test
MYH7-related skeletal myopathy1 test
Myhre syndrome1 test
Myoclonic dystonia 111 test
Myoclonic dystonia 261 test
Myoclonus, familial, 11 test
Myoclonus, familial, 21 test
Myofibrillar myopathy 21 test
Myofibrillar myopathy 31 test
Myofibrillar myopathy 41 test
Myofibrillar myopathy 51 test
Myofibrillar myopathy 61 test
Myofibrillar myopathy 71 test
Myofibrillar myopathy 81 test
Myofibromatosis, infantile, 11 test
Myofibromatosis, infantile, 21 test
Myokymia 11 test
Myopathy, centronuclear, 21 test
Myopathy, centronuclear, 51 test
Myopathy, centronuclear, 6, with fiber-type disproportion2 tests
Myopathy, congenital proximal, with minicore lesions1 test
Myopathy, congenital, with excess of muscle spindles1 test
Myopathy, congenital, with respiratory insufficiency and bone fractures1 test
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 failure2 tests
Myopathy, tubular aggregate, 11 test
Myopathy, tubular aggregate, 21 test
Myopia 21, autosomal dominant1 test
Myopia 22, autosomal dominant1 test
Myopia 23, autosomal recessive1 test
Myopia 24, autosomal dominant1 test
Myopia 25, autosomal dominant1 test
Myopia 26, X-linked, female-limited1 test
Myopia 61 test
Myosclerosis1 test
Myostatin-related muscle hypertrophy1 test
Myotonic dystrophy type 21 test
MYPN-related myopathy1 test
N-acetylaspartate deficiency1 test
NAD(P)HX dehydratase deficiency1 test
Nager syndrome1 test
Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)1 test
Nail disorder, nonsyndromic congenital, 3, (leukonychia)1 test
Nail-patella syndrome2 tests
Nanophthalmos 21 test
Nanophthalmos 41 test
Narcolepsy 11 test
Narcolepsy 71 test
NDE1-related microhydranencephaly1 test
NEK9-related lethal skeletal dysplasia1 test
Nemaline myopathy 101 test
Nemaline myopathy 21 test
Nemaline myopathy 3, autosomal dominant or recessive1 test
Nemaline myopathy 4, autosomal dominant1 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Nemaline myopathy 81 test
Nemaline myopathy 91 test
Neonatal diabetes mellitus with congenital hypothyroidism1 test
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neonatal pseudo-hydrocephalic progeroid syndrome1 test
Neoplasm of stomach1 test
Nephrogenic diabetes insipidus1 test
Nephronophthisis 111 test
Nephronophthisis 121 test
Nephronophthisis 131 test
Nephronophthisis 142 tests
Nephronophthisis 151 test
Nephronophthisis 161 test
Nephronophthisis 181 test
Nephronophthisis 191 test
Nephronophthisis 201 test
Nephronophthisis 71 test
Nephronophthisis 91 test
Nephronophthisis-like nephropathy 11 test
Nephropathic cystinosis1 test
Nephrotic syndrome 141 test
Nephrotic syndrome 151 test
Nephrotic syndrome 161 test
Nephrotic syndrome, type 101 test
Nephrotic syndrome, type 111 test
Nephrotic syndrome, type 121 test
Nephrotic syndrome, type 131 test
Nephrotic syndrome, type 171 test
Nephrotic syndrome, type 181 test
Nephrotic syndrome, type 191 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 41 test
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 91 test
Nestor-Guillermo progeria syndrome1 test
Neu-Laxova syndrome 11 test
Neu-Laxova syndrome 21 test
Neurocirculatory asthenia1 test
Neurodegeneration with brain iron accumulation 2B2 tests
Neurodegeneration with brain iron accumulation 42 tests
Neurodegeneration with brain iron accumulation 52 tests
Neurodegeneration with brain iron accumulation 61 test
Neurodegeneration with brain iron accumulation 71 test
Neurodegeneration with brain iron accumulation 81 test
Neurodevelopmental disorder with alopecia and brain abnormalities1 test
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity1 test
Neurodevelopmental disorder with microcephaly, ataxia, and seizures1 test
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy1 test
Neurodevelopmental disorder with midbrain and hindbrain malformations1 test
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1 test
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies1 test
Neuroferritinopathy2 tests
Neurofibromatosis, type 12 tests
Neurofibromatosis, type 22 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 111 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuronopathy, distal hereditary motor, type 2C1 test
Neuronopathy, distal hereditary motor, type 51 test
Neuronopathy, distal hereditary motor, type 5B1 test
Neuropathy, congenital hypomyelinating, 21 test
Neuropathy, congenital hypomyelinating, 31 test
Neuropathy, hereditary motor and sensory, type 6A1 test
Neuropathy, hereditary sensory and autonomic, type 1A1 test
Neuropathy, hereditary sensory and autonomic, type 2B1 test
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE1 test
Neuropathy, hereditary sensory, type 1D1 test
Neuropathy, hereditary sensory, type 1F1 test
Neuropathy, hereditary sensory, type 2C1 test
Neutropenia, severe congenital, 1, autosomal dominant1 test
Neutropenia, severe congenital, 2, autosomal dominant1 test
Nicolaides-Baraitser syndrome2 tests
Night blindness, congenital stationary (complete), 1A, X-linked1 test
Non syndromic Hirschsprung Disease1 test
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Non-ketotic hyperglycinemia2 tests
Nonsyndromic congenital nail disorder 81 test
Noonan syndrome 11 test
Noonan syndrome 101 test
Noonan syndrome 21 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair1 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Norman-Roberts syndrome1 test
NPHP3-related Meckel-like syndrome1 test
Nystagmus 1, congenital, X-linked1 test
Nystagmus 6, congenital, X-linked1 test
Obesity due to pro-opiomelanocortin deficiency1 test
Occipital pachygyria and polymicrogyria1 test
Ochoa syndrome1 test
Ocular albinism, type I2 tests
Ocular albinism, type II1 test
Ocular cystinosis1 test
Oculocerebrofacial syndrome, Kaufman type1 test
Oculocutaneous albinism2 tests
Oculocutaneous albinism type 11 test
Oculocutaneous albinism type 1B2 tests
Oculocutaneous albinism type 31 test
Oculocutaneous albinism type 42 tests
Oculocutaneous albinism type 61 test
Oculocutaneous albinism type 71 test
OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF1 test
Oculofaciocardiodental syndrome1 test
Oculomaxillofacial dysostosis1 test
Oculomotor-abducens synkinesis1 test
Oculootoradial syndrome1 test
Oculopharyngeal myopathy with leukoencephalopathy 11 test
Oculotrichoanal syndrome2 tests
Odontochondrodysplasia 2 with hearing loss and diabetes1 test
Oguchi disease-11 test
Oguchi disease-21 test
Oligospermia1 test
Olmsted syndrome, X-linked1 test
Oocyte maturation defect 21 test
Oocyte maturation defect 31 test
Oocyte maturation defect 41 test
Oocyte maturation defect 51 test
Oocyte maturation defect 61 test
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
Optic atrophy 111 test
Optic atrophy 3 with cataract1 test
Optic atrophy 51 test
Optic nerve hypoplasia and abnormalities of the central nervous system1 test
Orofacial cleft 101 test
Orofacial cleft 111 test
Orofacial cleft 151 test
Orofacial cleft 51 test
Orofacial cleft 6, susceptibility to1 test
Orofacial cleft 71 test
Orofacial cleft 82 tests
Orofacial-digital syndrome IV1 test
Orofaciodigital syndrome 161 test
Orofaciodigital syndrome 171 test
Orofaciodigital syndrome 181 test
Orofaciodigital syndrome type 141 test
Orofaciodigital syndrome type 61 test
Orofaciodigital syndrome V1 test
Orofaciodigital syndrome XV1 test
Orthostatic hypotension 11 test
Orthostatic hypotension 21 test
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits1 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 161 test
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta, perinatal lethal1 test
Osteogenesis imperfecta, type 181 test
Osteogenesis imperfecta, type 191 test
Osteogenesis imperfecta, type III/IV1 test
Osteopetrosis with renal tubular acidosis1 test
Osteopetrosis, autosomal dominant 31 test
Oto-palato-digital syndrome, type I1 test
Oto-palato-digital syndrome, type II1 test
Otofaciocervical syndrome1 test
Otofaciocervical syndrome 21 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
Ovarian cancer1 test
Ovarian dysgenesis 11 test
Ovarian dysgenesis 22 tests
Ovarian dysgenesis 31 test
Ovarian dysgenesis 51 test
Ovarian dysgenesis 61 test
Ovarian dysgenesis 71 test
Ovarian dysgenesis 81 test
Oxoglutaricaciduria1 test
Pachyonychia congenita syndrome1 test
Paganini-Miozzo syndrome2 tests
Paget disease of bone 2, early-onset1 test
Paget disease of bone 31 test
Paget disease of bone 61 test
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome1 test
Pallister-Hall syndrome1 test
Pancreatic agenesis 11 test
Pancreatic agenesis 21 test
Pancreatic triacylglycerol lipase deficiency1 test
Pancytopenia due to IKZF1 mutations1 test
Pancytopenia-developmental delay syndrome1 test
Paragangliomas 21 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 51 test
Paragangliomas with sensorineural hearing loss1 test
Parathyroid adenoma with cystic changes1 test
Parietal foramina 11 test
Parietal foramina 21 test
Parkes Weber syndrome2 tests
Parkinson disease3 tests
Parkinson disease 11, autosomal dominant, susceptibility to1 test
Parkinson disease 13, autosomal dominant, susceptibility to1 test
Parkinson disease 171 test
Parkinson disease 18, autosomal dominant, susceptibility to1 test
Parkinson disease 19B, early-onset1 test
Parkinson disease 22, autosomal dominant1 test
Parkinson disease 5, autosomal dominant, susceptibility to1 test
Parkinson disease, late-onset1 test
Parkinsonian-pyramidal syndrome1 test
Parkinsonism-dystonia, infantile1 test
Paroxysmal nocturnal hemoglobinuria 21 test
Paroxysmal nocturnal hemoglobinuria, somatic1 test
Paroxysmal nonkinesigenic dyskinesia 12 tests
Partial adenosine deaminase deficiency1 test
Partial androgen insensitivity syndrome1 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Partington syndrome1 test
Patent ductus arteriosus 21 test
Patent ductus arteriosus 31 test
Patterned macular dystrophy 11 test
Patterned macular dystrophy 21 test
Patterned macular dystrophy 31 test
Peeling skin syndrome 11 test
Peeling skin syndrome 41 test
Peeling skin syndrome 51 test
Peeling skin syndrome 61 test
Peeling skin syndrome type A1 test
PEHO-like syndrome1 test
Pelizaeus-Merzbacher disease2 tests
Pelviscapular dysplasia1 test
Pendred syndrome1 test
PERCHING syndrome1 test
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Periventricular nodular heterotopia2 tests
Periventricular nodular heterotopia 61 test
Periventricular nodular heterotopia 71 test
Periventricular nodular heterotopia 81 test
Permanent neonatal diabetes mellitus1 test
Permanent neonatal diabetes mellitus 11 test
Peroxisome biogenesis disorder 10A (Zellweger)1 test
Peroxisome biogenesis disorder 10B1 test
Peroxisome biogenesis disorder 11A (Zellweger)1 test
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A (Zellweger)1 test
Peroxisome biogenesis disorder 13A (Zellweger)1 test
Peroxisome biogenesis disorder 14B1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 2A (Zellweger)1 test
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 4A (Zellweger)1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6A (Zellweger)1 test
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A (Zellweger)1 test
Peroxisome biogenesis disorder 7B1 test
Peroxisome biogenesis disorder 8A (Zellweger)1 test
Peroxisome biogenesis disorder 8B1 test
Peroxisome biogenesis disorder 9B2 tests
Peroxisome biogenesis disorder type 3B1 test
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Perrault syndrome 51 test
Perrault syndrome 61 test
Perry syndrome1 test
Persistent hyperplastic primary vitreous2 tests
Persistent hyperplastic primary vitreous, autosomal recessive1 test
Pettigrew syndrome1 test
Peutz-Jeghers syndrome2 tests
Pfeiffer syndrome1 test
Pfeiffer syndrome type 21 test
Pfeiffer syndrome type 31 test
Pfieffer syndrome type 11 test
PGM1-congenital disorder of glycosylation1 test
Phenylketonuria1 test
Pheochromocytoma-paraganglioma2 tests
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1 test
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
Phosphoribosylpyrophosphate synthetase superactivity1 test
Pigmentary pallidal degeneration2 tests
Pigmented nodular adrenocortical disease, primary, 11 test
Pigmented nodular adrenocortical disease, primary, 21 test
Pigmented nodular adrenocortical disease, primary, 31 test
Pili torti-deafness syndrome1 test
Pili torti-developmental delay-neurological abnormalities syndrome1 test
Pituitary adenoma 3, multiple types1 test
Pituitary adenoma 5, multiple types1 test
Pituitary adenoma predisposition1 test
Pituitary adenoma, growth hormone-secreting, 21 test
Pituitary dependent hypercortisolism1 test
Pituitary hormone deficiency, combined, 11 test
Pituitary hormone deficiency, combined, 21 test
PITUITARY HORMONE DEFICIENCY, COMBINED, 51 test
Pituitary hormone deficiency, combined, 61 test
PLA2G6-associated neurodegeneration1 test
Platelet-type bleeding disorder 101 test
Platelet-type bleeding disorder 111 test
Platelet-type bleeding disorder 151 test
Platelet-type bleeding disorder 161 test
Platelet-type bleeding disorder 171 test
Platelet-type bleeding disorder 181 test
Platelet-type bleeding disorder 191 test
Platelet-type bleeding disorder 201 test
Platelet-type bleeding disorder 81 test
Platelet-type bleeding disorder 91 test
PLIN1-related familial partial lipodystrophy1 test
PMM2-congenital disorder of glycosylation1 test
Polycystic kidney disease 21 test
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease 51 test
Polycystic kidney disease 6 with or without polycystic liver disease1 test
Polycystic kidney disease, adult type1 test
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)1 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
Polycystic liver disease 15 tests
Polycystic liver disease 21 test
Polycystic liver disease 3 with or without kidney cysts1 test
Polycystic liver disease 4 with or without kidney cysts1 test
Polydactyly, preaxial type II1 test
Polyendocrine-polyneuropathy syndrome1 test
Polyglucosan body myopathy type 11 test
Polyglucosan body myopathy type 21 test
Polymicrogyria with optic nerve hypoplasia1 test
Polysyndactyly 41 test
Pontocerebellar hypoplasia type 101 test
Pontocerebellar hypoplasia type 1A1 test
Pontocerebellar hypoplasia type 1B1 test
Pontocerebellar hypoplasia type 21 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2D1 test
Pontocerebellar hypoplasia type 2E1 test
Pontocerebellar hypoplasia type 31 test
Pontocerebellar hypoplasia type 42 tests
Pontocerebellar hypoplasia type 52 tests
Pontocerebellar hypoplasia type 61 test
Pontocerebellar hypoplasia type 71 test
Pontocerebellar hypoplasia type 81 test
Pontocerebellar hypoplasia type 91 test
Pontocerebellar hypoplasia, type 111 test
Pontocerebellar hypoplasia, type 121 test
Pontocerebellar hypoplasia, type 1C1 test
Pontocerebellar hypoplasia, type 1D1 test
Pontocerebellar hypoplasia, type 2F1 test
Popliteal pterygium syndrome2 tests
Porencephaly 21 test
Porokeratosis 1, Mibelli type1 test
Porokeratosis 3, disseminated superficial actinic type1 test
Porokeratosis 7, multiple types1 test
Porokeratosis 8, disseminated superficial actinic type1 test
Porokeratosis 9, multiple types1 test
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1 test
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 21 test
Posterior polymorphous corneal dystrophy 31 test
Postural orthostatic tachycardia syndrome1 test
PPARG-related familial partial lipodystrophy1 test
Preaxial hand polydactyly1 test
Precocious puberty, central, 21 test
Predisposition to invasive fungal disease due to CARD9 deficiency1 test
Preeclampsia/eclampsia 41 test
Preeclampsia/eclampsia 51 test
Pregnancy loss, recurrent, 41 test
Preimplantation embryonic lethality 21 test
Preimplantation lethality1 test
prelingual nonsyndromic hearing loss1 test
Premature ovarian failure2 tests
Premature ovarian failure 11 test
Premature ovarian failure 101 test
Premature ovarian failure 111 test
Premature ovarian failure 121 test
Premature ovarian failure 131 test
Premature ovarian failure 141 test
Premature ovarian failure 151 test
Premature ovarian failure 2A1 test
Premature ovarian failure 31 test
Premature ovarian failure 42 tests
Premature ovarian failure 51 test
Premature ovarian failure 61 test
Premature ovarian failure 71 test
Premature ovarian failure 81 test
Premature ovarian failure 91 test
Primary adrenocortical insufficiency2 tests
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders1 test
Primary ciliary dyskinesia 101 test
Primary ciliary dyskinesia 111 test
Primary ciliary dyskinesia 121 test
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 141 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 161 test
Primary ciliary dyskinesia 171 test
Primary ciliary dyskinesia 181 test
Primary ciliary dyskinesia 191 test
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 201 test
Primary ciliary dyskinesia 211 test
Primary ciliary dyskinesia 221 test
Primary ciliary dyskinesia 231 test
Primary ciliary dyskinesia 241 test
Primary ciliary dyskinesia 251 test
Primary ciliary dyskinesia 261 test
Primary ciliary dyskinesia 271 test
Primary ciliary dyskinesia 281 test
Primary ciliary dyskinesia 291 test
Primary ciliary dyskinesia 31 test
Primary ciliary dyskinesia 301 test
Primary ciliary dyskinesia 321 test
Primary ciliary dyskinesia 331 test
Primary ciliary dyskinesia 341 test
Primary ciliary dyskinesia 351 test
Primary ciliary dyskinesia 51 test
Primary ciliary dyskinesia 61 test
Primary ciliary dyskinesia 71 test
Primary ciliary dyskinesia 91 test
Primary coenzyme Q10 deficiency 81 test
Primary erythromelalgia1 test
Primary familial polycythemia due to EPO receptor mutation2 tests
Primary hyperoxaluria type 32 tests
Primary hyperoxaluria, type I3 tests
Primary hyperoxaluria, type II2 tests
Primary hypomagnesemia1 test
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1 test
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection1 test
Primary progressive aphasia1 test
Progressive bifocal chorioretinal atrophy1 test
Progressive bulbar palsy of childhood1 test
Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
Progressive familial heart block type IB1 test
Progressive familial heart block, type 1A1 test
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 21 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 61 test
Progressive myoclonic epilepsy type 71 test
Progressive myoclonic epilepsy type 81 test
Progressive myoclonic epilepsy type 91 test
Progressive pseudorheumatoid dysplasia1 test
Progressive scapulohumeroperoneal distal myopathy1 test
Progressive sclerosing poliodystrophy2 tests
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome1 test
Progressive supranuclear palsy1 test
Prolidase deficiency2 tests
Protan defect1 test
Proteasome-associated autoinflammatory syndrome 1 and digenic forms1 test
Proteasome-associated autoinflammatory syndrome 21 test
Proteasome-associated autoinflammatory syndrome 3 and digenic forms1 test
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC1 test
Protein-losing enteropathy1 test
Proteus syndrome1 test
Protoporphyria, erythropoietic, 11 test
Proximal symphalangism 1A1 test
Pseudo von Willebrand disease1 test
Pseudo-TORCH syndrome 11 test
Pseudo-TORCH syndrome 21 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoaldosteronism, type 21 test
Pseudoxanthoma elasticum2 tests
Psoriasis 1, susceptibility to1 test
Psoriasis 13, susceptibility to1 test
Psoriasis 15, pustular, susceptibility to1 test
Psoriasis 21 test
Psoriasis, protection against1 test
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome1 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 11 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 31 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41 test
Pulmonary fibrosis, idiopathic, susceptibility to1 test
Pulmonary hypertension, familial primary, 1, with or without HHT1 test
Pulmonary hypertension, primary, 21 test
Pulmonary hypertension, primary, 31 test
Pulmonary hypertension, primary, 41 test
Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated1 test
Pulmonary venoocclusive disease 11 test
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2 tests
PYCR1-related de Barsy syndrome1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate carboxylase deficiency1 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E2 deficiency1 test
Pyruvate dehydrogenase E3 deficiency2 tests
Pyruvate dehydrogenase phosphatase deficiency1 test
Pyruvate kinase hyperactivity1 test
Quebec platelet disorder1 test
Radial aplasia-thrombocytopenia syndrome3 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 21 test
Rafiq syndrome1 test
Rajab interstitial lung disease with brain calcifications 21 test
Rapp-Hodgkin syndrome1 test
Recurrent Neisseria infections due to factor D deficiency1 test
Refsum disease, adult, 11 test
Reis-Bucklers' corneal dystrophy1 test
Renal amyloidosis1 test
Renal carnitine transport defect1 test
Renal cell carcinoma2 tests
Renal coloboma syndrome1 test
Renal hypodysplasia/aplasia 11 test
Renal hypodysplasia/aplasia 21 test
Renal hypodysplasia/aplasia 31 test
Renal hypomagnesemia 21 test
Renal hypomagnesemia 41 test
Renal hypomagnesemia 5 with ocular involvement1 test
Renal hypomagnesemia 61 test
Renal-hepatic-pancreatic dysplasia 11 test
Renal-hepatic-pancreatic dysplasia 21 test
Renpenning syndrome1 test
Respiratory papillomatosis, juvenile recurrent, congenital1 test
Reticulate acropigmentation of Kitamura1 test
Retinal arterial tortuosity1 test
Retinal dystrophy and obesity1 test
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
Retinal dystrophy, early-onset severe1 test
Retinal dystrophy, early-onset, with or without pituitary dysfunction1 test
Retinitis pigmentosa2 tests
Retinitis pigmentosa 11 test
Retinitis pigmentosa 101 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 121 test
Retinitis pigmentosa 131 test
Retinitis pigmentosa 141 test
Retinitis pigmentosa 171 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 201 test
Retinitis pigmentosa 231 test
Retinitis pigmentosa 251 test
Retinitis pigmentosa 261 test
Retinitis pigmentosa 271 test
Retinitis pigmentosa 281 test
Retinitis pigmentosa 31 test
Retinitis pigmentosa 301 test
Retinitis pigmentosa 311 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 371 test
Retinitis pigmentosa 381 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 401 test
Retinitis pigmentosa 411 test
Retinitis pigmentosa 421 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 441 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 461 test
Retinitis pigmentosa 471 test
Retinitis pigmentosa 481 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 501 test
Retinitis pigmentosa 511 test
Retinitis pigmentosa 541 test
Retinitis pigmentosa 551 test
Retinitis pigmentosa 561 test
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 591 test
Retinitis pigmentosa 601 test
Retinitis pigmentosa 611 test
Retinitis pigmentosa 621 test
Retinitis pigmentosa 642 tests
Retinitis pigmentosa 652 tests
Retinitis pigmentosa 661 test
Retinitis pigmentosa 671 test
Retinitis pigmentosa 681 test
Retinitis pigmentosa 691 test
Retinitis pigmentosa 71 test
Retinitis pigmentosa 7 and digenic form1 test
Retinitis pigmentosa 7, digenic form2 tests
Retinitis pigmentosa 701 test
Retinitis pigmentosa 711 test
Retinitis pigmentosa 721 test
Retinitis pigmentosa 731 test
Retinitis pigmentosa 741 test
Retinitis pigmentosa 751 test
Retinitis pigmentosa 761 test
Retinitis pigmentosa 771 test
Retinitis pigmentosa 781 test
Retinitis pigmentosa 791 test
Retinitis pigmentosa 801 test
Retinitis pigmentosa 811 test
Retinitis pigmentosa 831 test
Retinitis pigmentosa 841 test
Retinitis pigmentosa 851 test
Retinitis pigmentosa with or without situs inversus1 test
Retinitis pigmentosa, juvenile1 test
Retinitis pigmentosa, juvenile, autosomal recessive1 test
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED1 test
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
Retinoblastoma2 tests
Retinopathy of prematurity3 tests
Revesz syndrome1 test
Reynolds syndrome1 test
RFT1-congenital disorder of glycosylation1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhabdoid tumor predisposition syndrome 21 test
Rhabdoid tumors, somatic1 test
Rhizomelic chondrodysplasia punctata type 12 tests
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Rhizomelic chondrodysplasia punctata type 51 test
RHYNS syndrome1 test
Rienhoff syndrome1 test
Ritscher-Schinzel syndrome 21 test
Roberts-SC phocomelia syndrome1 test
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1 test
Rothmund-Thomson syndrome2 tests
Rotor syndrome2 tests
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
Saethre-Chotzen syndrome2 tests
Saldino-Mainzer syndrome1 test
Salla disease1 test
Sarcotubular myopathy1 test
Scapuloperoneal spinal muscular atrophy, autosomal recessive1 test
Schimke immuno-osseous dysplasia1 test
Schnyder crystalline corneal dystrophy1 test
Schuurs-Hoeijmakers syndrome1 test
Schwannomatosis 21 test
SCHWANNOMATOSIS, SOMATIC1 test
Schwannomatosis-1, susceptibility to1 test
Sclerosteosis 11 test
Sclerosteosis 21 test
SCOTT SYNDROME1 test
Seckel syndrome 11 test
Seckel syndrome 101 test
Seckel syndrome 21 test
Seckel syndrome 41 test
Seckel syndrome 51 test
Seckel syndrome 61 test
Seckel syndrome 71 test
Seckel syndrome 81 test
Seckel syndrome 91 test
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 51 test
Seizures, benign familial neonatal, 21 test
Seizures, benign neonatal, 11 test
Sengers syndrome1 test
Senior-Loken syndrome 11 test
Senior-Loken syndrome 41 test
Senior-Loken syndrome 51 test
Senior-Loken syndrome 61 test
Senior-Loken syndrome 71 test
Senior-Loken syndrome 81 test
Senior-Loken syndrome 91 test
Sensorineural deafness with mild renal dysfunction1 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Septo-optic dysplasia sequence1 test
SERKAL syndrome1 test
Severe combined immunodeficiency due to CARD11 deficiency1 test
Severe combined immunodeficiency due to CARMIL2 deficiency1 test
Severe combined immunodeficiency due to CD70 deficiency1 test
Severe combined immunodeficiency due to CORO1A deficiency1 test
Severe combined immunodeficiency due to CTPS1 deficiency1 test
Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
Severe combined immunodeficiency due to IKK2 deficiency1 test
Severe combined immunodeficiency due to LAT deficiency1 test
Severe combined immunodeficiency due to LCK deficiency1 test
Severe congenital hypochromic anemia with ringed sideroblasts1 test
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1 test
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1 test
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome1 test
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1 test
Severe intellectual disability-progressive spastic diplegia syndrome1 test
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome1 test
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
Severe myoclonic epilepsy in infancy1 test
Severe X-linked mitochondrial encephalomyopathy1 test
Severe X-linked myotubular myopathy3 tests
Short QT syndrome type 11 test
Short QT syndrome type 21 test
Short QT syndrome type 31 test
Short stature and microcephaly with genital anomalies1 test
Short stature due to primary acid-labile subunit deficiency1 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
SHORT syndrome1 test
Short-rib thoracic dysplasia 10 with or without polydactyly1 test
Short-rib thoracic dysplasia 11 with or without polydactyly1 test
Short-rib thoracic dysplasia 13 with or without polydactyly1 test
Short-rib thoracic dysplasia 14 with polydactyly1 test
Short-rib thoracic dysplasia 15 with polydactyly1 test
Short-rib thoracic dysplasia 16 with or without polydactyly1 test
Short-rib thoracic dysplasia 17 with or without polydactyly1 test
Short-rib thoracic dysplasia 18 with polydactyly1 test
Short-rib thoracic dysplasia 19 with or without polydactyly1 test
Short-rib thoracic dysplasia 20 with polydactyly1 test
Short-rib thoracic dysplasia 6 with or without polydactyly1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
Short-rib thoracic dysplasia 8 with or without polydactyly1 test
Shprintzen-Goldberg syndrome1 test
Shwachman syndrome3 tests
Shwachman-Diamond syndrome 21 test
Sialuria1 test
Sick sinus syndrome 11 test
Sick sinus syndrome 2, autosomal dominant1 test
Sick sinus syndrome 3, susceptibility to1 test
Sideroblastic anemia 21 test
Sideroblastic anemia 31 test
Singleton-Merten syndrome 11 test
Singleton-Merten syndrome 21 test
Sitosterolemia1 test
Skin creases, congenital symmetric circumferential, 21 test
SLC35A1-congenital disorder of glycosylation2 tests
SLC35A2-congenital disorder of glycosylation3 tests
SLC39A8-CDG2 tests
Smith-Lemli-Opitz syndrome1 test
Smith-McCort dysplasia1 test
Smith-McCort dysplasia 21 test
Solid tumor2 tests
Somatotroph adenoma1 test
Sotos syndrome1 test
Spastic ataxia 11 test
Spastic ataxia 21 test
Spastic ataxia 31 test
Spastic ataxia 41 test
Spastic ataxia 51 test
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
Spastic ataxia 9, autosomal recessive1 test
Spastic paraplegia 52, autosomal recessive1 test
Spastic paraplegia 80, autosomal dominant1 test
Specific granule deficiency 11 test
Specific granule deficiency 21 test
Specific language impairment 51 test
Spermatogenic failure 101 test
Spermatogenic failure 111 test
Spermatogenic failure 121 test
Spermatogenic failure 131 test
Spermatogenic failure 141 test
Spermatogenic failure 151 test
Spermatogenic failure 161 test
Spermatogenic failure 171 test
Spermatogenic failure 181 test
Spermatogenic failure 191 test
Spermatogenic failure 201 test
Spermatogenic failure 211 test
Spermatogenic failure 221 test
Spermatogenic failure 231 test
Spermatogenic failure 241 test
Spermatogenic failure 251 test
Spermatogenic failure 261 test
Spermatogenic failure 271 test
Spermatogenic failure 281 test
Spermatogenic failure 291 test
Spermatogenic failure 31 test
Spermatogenic failure 301 test
Spermatogenic failure 311 test
Spermatogenic failure 321 test
Spermatogenic failure 331 test
Spermatogenic failure 341 test
Spermatogenic failure 351 test
Spermatogenic failure 361 test
Spermatogenic failure 371 test
Spermatogenic failure 381 test
Spermatogenic failure 41 test
Spermatogenic failure 71 test
Spermatogenic failure 81 test
Spermatogenic failure 91 test
Spermatogenic failure, X-linked, 21 test
Spermatogenic failure, Y-linked, 21 test
Spinal muscular atrophy with congenital bone fractures 11 test
Spinal muscular atrophy with congenital bone fractures 21 test
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia 441 test
Spinocerebellar ataxia 451 test
Spinocerebellar ataxia 461 test
Spinocerebellar ataxia 471 test
Spinocerebellar ataxia 481 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 112 tests
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 132 tests
Spinocerebellar ataxia type 142 tests
Spinocerebellar ataxia type 15/163 tests
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 22 tests
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 282 tests
Spinocerebellar ataxia type 291 test
Spinocerebellar ataxia type 311 test
Spinocerebellar ataxia type 341 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 361 test
Spinocerebellar ataxia type 371 test
Spinocerebellar ataxia type 381 test
Spinocerebellar ataxia type 41 test
Spinocerebellar ataxia type 401 test
Spinocerebellar ataxia type 411 test
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 81 test
Spinocerebellar ataxia with epilepsy1 test
Spinocerebellar ataxia, autosomal recessive 221 test
Spinocerebellar ataxia, autosomal recessive 231 test
Spinocerebellar ataxia, autosomal recessive 241 test
Spinocerebellar ataxia, autosomal recessive 251 test
Spinocerebellar ataxia, autosomal recessive 261 test
Spinocerebellar ataxia, autosomal recessive 271 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
Split hand-foot malformation 1 with sensorineural hearing loss1 test
Split hand-foot malformation 42 tests
Split hand-foot malformation 61 test
Spondylocarpotarsal synostosis syndrome1 test
Spondylocostal dysostosis 1, autosomal recessive1 test
Spondylocostal dysostosis 2, autosomal recessive1 test
Spondylocostal dysostosis 3, autosomal recessive1 test
Spondylocostal dysostosis 4, autosomal recessive1 test
Spondylocostal dysostosis 51 test
Spondylocostal dysostosis 6, autosomal recessive1 test
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
Spondyloepimetaphyseal dysplasia with joint laxity, type 31 test
Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
Spondyloepimetaphyseal dysplasia, di rocco type1 test
Spondyloepimetaphyseal dysplasia, Krakow type1 test
Spondyloepimetaphyseal dysplasia, Missouri type1 test
Spondyloepimetaphyseal dysplasia, PAPSS2 type1 test
Spondyloepiphyseal dysplasia tarda, X-linked2 tests
Spondyloepiphyseal dysplasia with metatarsal shortening1 test
Spondyloepiphyseal dysplasia, Kimberley type1 test
Spondyloepiphyseal dysplasia, kondo-fu type1 test
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spongy degeneration of central nervous system1 test
SRD5A3-congenital disorder of glycosylation1 test
SSR4-congenital disorder of glycosylation1 test
STAT3-related early-onset multisystem autoimmune disease1 test
Steinert myotonic dystrophy syndrome1 test
Stickler syndrome type 11 test
Stickler syndrome type 21 test
Stickler syndrome, type 41 test
Stickler syndrome, type 51 test
Stickler syndrome, type I, nonsyndromic ocular1 test
Striatal degeneration, autosomal dominant1 test
Striatonigral degeneration, childhood-onset1 test
STT3A-congenital disorder of glycosylation1 test
STT3B-congenital disorder of glycosylation1 test
Stuttering, familial persistent, 11 test
Subcortical band heterotopia1 test
Subcortical laminal heterotopia, X-linked1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria1 test
Sudden cardiac failure, alcohol-induced1 test
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Surfactant metabolism dysfunction, pulmonary, 11 test
Surfactant metabolism dysfunction, pulmonary, 21 test
Surfactant metabolism dysfunction, pulmonary, 41 test
Surfactant metabolism dysfunction, pulmonary, 51 test
Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
Symmetrical dyschromatosis of extremities1 test
Symphalangism, proximal, 1B1 test
Symphalangism-brachydactyly syndrome1 test
Syndromic Hirschsprung Disease1 test
Syndromic microphthalmia type 51 test
Syndromic X-linked intellectual disability 141 test
Syndromic X-linked intellectual disability 341 test
Syndromic X-linked intellectual disability 942 tests
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Lubs type2 tests
Syndromic X-linked intellectual disability Najm type1 test
Syndromic X-linked intellectual disability Nascimento type1 test
Syndromic X-linked intellectual disability Raymond type1 test
Syndromic X-linked intellectual disability Shashi type1 test
Syndromic X-linked intellectual disability Siderius type1 test
Syndromic X-linked intellectual disability Snyder type1 test
TCF12-related craniosynostosis1 test
TCR-alpha-beta-positive T-cell deficiency1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 51 test
temperature sensitive nonsyndromic auditory neuropathy1 test
Terminal osseous dysplasia-pigmentary defects syndrome1 test
Testicular anomalies with or without congenital heart disease1 test
Tetraamelia syndrome 11 test
TFRC-related combined immunodeficiency1 test
Thanatophoric dysplasia type 11 test
Thiel-Behnke corneal dystrophy1 test
Thiopurine S-methyltransferase deficiency1 test
Thiopurines, poor metabolism of, 21 test
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome1 test
Thrombocythemia 11 test
Thrombocythemia 21 test
Thrombocythemia 31 test
Thrombocytopenia1 test
Thrombocytopenia 61 test
Thrombocytopenia, anemia, and myelofibrosis1 test
Thromboembolism, susceptibility to1 test
Thrombomodulin-related bleeding disorder1 test
Thrombophilia1 test
Thrombophilia due to activated protein C resistance2 tests
Thrombophilia due to elevated histidine-rich glycoprotein1 test
Thrombophilia due to HRG deficiency1 test
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 defect1 test
Thrombophilia, familial, due to decreased release of PLAT1 test
Thrombophilia, susceptibility to, due to factor V Leiden1 test
Thrombophilia, X-linked, due to factor 9 defect1 test
Thromboxane synthase deficiency1 test
Thyroid cancer, nonmedullary, 11 test
Thyroid cancer, nonmedullary, 21 test
Thyroid cancer, nonmedullary, 41 test
Thyroid cancer, nonmedullary, 51 test
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Thyrotoxic periodic paralysis, susceptibility to, 21 test
Timothy syndrome2 tests
TMEM165-congenital disorder of glycosylation2 tests
TMEM199-CDG2 tests
Tooth agenesis, selective, 11 test
Tooth agenesis, selective, 31 test
Tooth agenesis, selective, 41 test
Tooth agenesis, selective, 71 test
Tooth agenesis, selective, 81 test
Tooth agenesis, selective, 91 test
Tooth agenesis, selective, X-linked, 11 test
Torsion dystonia 21 test
Torsion dystonia 41 test
Torsion dystonia 61 test
Townes-Brocks syndrome 11 test
Townes-Brocks syndrome 21 test
Townes-Brocks-branchiootorenal-like syndrome1 test
Treacher Collins syndrome2 tests
Tremor, hereditary essential, 11 test
Tremor, hereditary essential, 41 test
Tremor, hereditary essential, 51 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1 test
Trichorhinophalangeal dysplasia type I2 tests
Trichothiodystrophy 1, photosensitive1 test
Trichothiodystrophy 2, photosensitive1 test
Trichothiodystrophy 3, photosensitive1 test
Trichothiodystrophy 4, nonphotosensitive1 test
Trichothiodystrophy 5, nonphotosensitive1 test
Trichothiodystrophy 6, nonphotosensitive1 test
Trichotillomania1 test
Triglyceride storage disease with ichthyosis1 test
Trigonocephaly 11 test
Trigonocephaly 21 test
Trimethylaminuria1 test
Triphalangeal thumb, type I1 test
Triphalangeal thumb-polysyndactyly syndrome1 test
Troyer syndrome2 tests
Tsc2 angiomyolipomas, renal, modifier of1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tubulinopathy1 test
Tumor predisposition syndrome 32 tests
Tumoral calcinosis, hyperphosphatemic, familial, 31 test
TWIST1-related craniosynostosis2 tests
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 201 test
Type 2 diabetes mellitus1 test
Type A2 brachydactyly1 test
Type I complement component 8 deficiency1 test
Type II complement component 8 deficiency1 test
Tyrosinase-negative oculocutaneous albinism1 test
Ubiquitous Glucose-6-Phosphatase Deficiency1 test
Ullrich congenital muscular dystrophy 1A2 tests
Ullrich congenital muscular dystrophy 21 test
Uncombable hair syndrome 21 test
Uncombable hair syndrome 31 test
Unverricht-Lundborg syndrome1 test
Urinary bladder, atony of1 test
Urocanate hydratase deficiency1 test
Urofacial syndrome 21 test
Uruguay Faciocardiomusculoskeletal syndrome1 test
Usher syndrome type 1B1 test
Usher syndrome type 1C1 test
Usher syndrome type 1D1 test
Usher syndrome type 1F1 test
Usher syndrome type 1G1 test
Usher syndrome type 1J1 test
Usher syndrome type 2A1 test
Usher syndrome type 2C1 test
Usher syndrome type 2D1 test
Usher syndrome type 31 test
Usher syndrome type 3B1 test
Usher syndrome, type 41 test
USHER SYNDROME, TYPE ID/F, DIGENIC1 test
Usher syndrome, type IIC, GPR98/PDZD7 digenic1 test
UV-sensitive syndrome 11 test
UV-sensitive syndrome 21 test
UV-sensitive syndrome 31 test
Uveal coloboma-cleft lip and palate-intellectual disability1 test
VACTERL with hydrocephalus1 test
Van der Woude syndrome2 tests
Van Maldergem syndrome 11 test
Van Maldergem syndrome 21 test
Variegate porphyria1 test
Vas deferens, congenital bilateral aplasia of, X-linked1 test
Venous thromboembolism, susceptibility to1 test
Ventricular septal defect 11 test
Ventricular septal defect 21 test
Ventricular septal defect 31 test
Ventricular tachycardia, catecholaminergic polymorphic 61 test
Vertebral hypersegmentation and orofacial anomalies1 test
Vesicoureteral reflux 21 test
Vesicoureteral reflux 31 test
Vesicoureteral reflux 81 test
Visceral neuropathy, familial, 2, autosomal recessive1 test
Visual impairment and progressive phthisis bulbi1 test
Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
Vitelliform macular dystrophy1 test
Vitelliform macular dystrophy 22 tests
Vitelliform macular dystrophy 31 test
Vitelliform macular dystrophy 41 test
Vitelliform macular dystrophy 51 test
Vitreoretinopathy with phalangeal epiphyseal dysplasia1 test
Von Hippel-Lindau syndrome2 tests
von Willebrand disorder2 tests
Waardenburg syndrome type 13 tests
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Waardenburg syndrome/albinism, digenic1 test
Waardenburg syndrome/ocular albinism, digenic1 test
Wagner syndrome1 test
Warburg micro syndrome 11 test
Warburg micro syndrome 21 test
Warburg micro syndrome 31 test
Warburg micro syndrome 41 test
Webb-Dattani syndrome1 test
Weill-Marchesani 4 syndrome, recessive1 test
Weill-Marchesani syndrome 11 test
Weill-Marchesani syndrome 2, dominant1 test
Weill-Marchesani syndrome 31 test
Werner syndrome2 tests
WHIM syndrome 21 test
White sponge nevus 11 test
White sponge nevus 21 test
Wieacker-Wolff syndrome1 test
Wilms tumor 13 tests
Wilms tumor 21 test
Wilms tumor 51 test
Wilms tumor 61 test
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome2 tests
Wilson-Turner syndrome1 test
Winchester syndrome1 test
Wiskott-Aldrich syndrome3 tests
Wolfram syndrome1 test
Woodhouse-Sakati syndrome1 test
Woolly hair, autosomal recessive 2, with or without hypotrichosis1 test
Wooly hair, autosomal recessive 1, with or without hypotrichosis1 test
WT1-related disorder1 test
X-linked agammaglobulinemia4 tests
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked Alport syndrome1 test
X-linked chondrodysplasia punctata 11 test
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
X-linked complicated corpus callosum dysgenesis1 test
X-linked cone-rod dystrophy 11 test
X-linked cone-rod dystrophy 31 test
X-linked congenital hemolytic anemia1 test
X-linked dominant chondrodysplasia, Chassaing-Lacombe type1 test
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
X-linked dystonia-parkinsonism2 tests
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked erythropoietic protoporphyria2 tests
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome1 test
X-linked intellectual disability1 test
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability, Cantagrel type1 test
X-linked intellectual disability, Stocco dos Santos type1 test
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
X-linked intellectual disability-short stature-overweight syndrome1 test
X-linked lissencephaly with abnormal genitalia1 test
X-linked lissencephaly with ambigious genitalia1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency3 tests
X-linked lymphoproliferative disease due to XIAP deficiency1 test
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
X-linked mixed hearing loss with perilymphatic gusher1 test
X-linked myopathy with postural muscle atrophy1 test
X-linked Opitz G/BBB syndrome1 test
X-linked severe combined immunodeficiency1 test
X-linked severe congenital neutropenia1 test
X-linked sideroblastic anemia 11 test
X-linked sideroblastic anemia with ataxia1 test
X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea1 test
Xanthinuria type II1 test
Xeroderma pigmentosum2 tests
ZAP70-Related Severe Combined Immunodeficiency1 test
Zimmermann-Laband syndrome 11 test
Zimmermann-Laband syndrome 21 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Carrier testing
Mutation Confirmation
Preimplantation Genetic Diagnosis (PGD)
Uniparental Disomy (UPD) Testing
Whole Exome Sequencing
Whole Genome Sequencing

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.