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GTR Home > Laboratories > Institute for Human Genetics

Institute for Human Genetics

GTR Lab ID: 21170, Last updated:2023-10-19

Personnel

Conditions and tests

  • 3-Methylglutaconic aciduria type 31 test
  • 3-methylglutaconic aciduria type 81 test
  • 3M syndrome 21 test
  • 3MC syndrome 11 test
  • 46,XX sex reversal 11 test
  • 46,XX sex reversal 41 test
  • 46,xx sex reversal 51 test
  • 46,XY sex reversal 11 test
  • 46,XY sex reversal 21 test
  • 46,XY sex reversal 31 test
  • 46,XY sex reversal 91 test
  • Abetalipoproteinaemia1 test
  • Abortive cerebellar ataxia2 tests
  • ABri amyloidosis1 test
  • Acheiropodia1 test
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB1 test
  • Achondroplasia1 test
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Acne inversa, familial, 11 test
  • Acne inversa, familial, 21 test
  • Acne inversa, familial, 32 tests
  • Acquired hemoglobin H disease1 test
  • Acral peeling skin syndrome1 test
  • Acrocallosal syndrome1 test
  • Acrocapitofemoral dysplasia1 test
  • Acrocephalosyndactyly type I1 test
  • Acrodermatitis continua suppurativa of Hallopeau1 test
  • Acrodysostosis 1 with or without hormone resistance2 tests
  • Acrodysostosis 2 with or without hormone resistance1 test
  • Acroerythrokeratoderma1 test
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromesomelic dysplasia 1, Maroteaux type1 test
  • Acromesomelic dysplasia 31 test
  • Acromicric dysplasia2 tests
  • ACTH-independent macronodular adrenal hyperplasia 11 test
  • ACTH-independent macronodular adrenal hyperplasia 21 test
  • Action myoclonus-renal failure syndrome1 test
  • Acute febrile neutrophilic dermatosis1 test
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
  • Acute lymphoid leukemia1 test
  • Acute myeloid leukemia1 test
  • Adams-Oliver syndrome 11 test
  • Adams-Oliver syndrome 21 test
  • Adams-Oliver syndrome 31 test
  • Adams-Oliver syndrome 51 test
  • ADan amyloidosis1 test
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
  • Adrenocortical carcinoma, hereditary2 tests
  • ADULT syndrome1 test
  • Adult-onset autosomal dominant demyelinating leukodystrophy1 test
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Age related macular degeneration 11 test
  • Age related macular degeneration 22 tests
  • Age related macular degeneration 61 test
  • Age related macular degeneration 71 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
  • Al-Gazali syndrome1 test
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Alagille syndrome due to a NOTCH2 point mutation1 test
  • ALG11-congenital disorder of glycosylation1 test
  • ALG12-congenital disorder of glycosylation1 test
  • ALG6-congenital disorder of glycosylation 1C1 test
  • ALG8 congenital disorder of glycosylation1 test
  • Allan-Herndon-Dudley syndrome1 test
  • Alopecia-intellectual disability syndrome 41 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 22 tests
  • Alveolar rhabdomyosarcoma1 test
  • Alzheimer disease 21 test
  • Alzheimer disease 33 tests
  • Alzheimer disease 41 test
  • Amelogenesis imperfecta type 1A1 test
  • Amish lethal microcephaly1 test
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 101 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 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 81 test
  • Amyotrophic lateral sclerosis, susceptibility to, 241 test
  • Amyotrophic lateral sclerosis, susceptibility to, 251 test
  • Amyotrophic neuralgia1 test
  • Anauxetic dysplasia 11 test
  • Anauxetic dysplasia 21 test
  • Anauxetic dysplasia 31 test
  • Andersen Tawil syndrome2 tests
  • Aneurysm-osteoarthritis syndrome1 test
  • Angelman syndrome1 test
  • Aniridia 11 test
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 71 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 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
  • Aplastic anemia2 tests
  • Apolipoprotein c-III deficiency1 test
  • Apparent mineralocorticoid excess1 test
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
  • Arrhythmogenic right ventricular dysplasia 12 tests
  • Arrhythmogenic right ventricular dysplasia 102 tests
  • Arrhythmogenic right ventricular dysplasia 112 tests
  • Arrhythmogenic right ventricular dysplasia 122 tests
  • Arrhythmogenic right ventricular dysplasia 51 test
  • Arrhythmogenic right ventricular dysplasia 82 tests
  • Arrhythmogenic right ventricular dysplasia 92 tests
  • Arterial calcification, generalized, of infancy, 11 test
  • Arterial tortuosity syndrome1 test
  • Arthrogryposis multiplex congenita 3, myogenic type1 test
  • Arthrogryposis multiplex congenita 52 tests
  • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 11 test
  • Arthrogryposis, renal dysfunction, and cholestasis 21 test
  • Arts syndrome1 test
  • Asphyxiating thoracic dystrophy 21 test
  • Asphyxiating thoracic dystrophy 41 test
  • Asphyxiating thoracic dystrophy 51 test
  • Ataxia - oculomotor apraxia type 41 test
  • Ataxia-hypogonadism-choroidal dystrophy syndrome1 test
  • Ataxia-telangiectasia syndrome2 tests
  • Ataxia-telangiectasia-like disorder 11 test
  • Atelosteogenesis type II1 test
  • Atrial fibrillation, familial, 102 tests
  • Atrial fibrillation, familial, 112 tests
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 141 test
  • Atrial fibrillation, familial, 32 tests
  • Atrial fibrillation, familial, 42 tests
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 92 tests
  • 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 standstill 12 tests
  • Atrial standstill 21 test
  • Atrioventricular septal defect1 test
  • Atrophia bulborum hereditaria1 test
  • Atypical glycine encephalopathy1 test
  • Auditory neuropathy, autosomal dominant 31 test
  • Auriculocondylar syndrome 21 test
  • Autism, susceptibility to, 151 test
  • Autism, susceptibility to, 161 test
  • Autism, susceptibility to, 171 test
  • Autism, susceptibility to, 51 test
  • Autism, susceptibility to, X-linked 11 test
  • Autism, susceptibility to, X-linked 22 tests
  • Autism, susceptibility to, X-linked 31 test
  • Autism, susceptibility to, X-linked 41 test
  • Autism, susceptibility to, X-linked 51 test
  • Autoimmune lymphoproliferative syndrome type 42 tests
  • Autoinflammation with arthritis and dyskeratosis1 test
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
  • Autoinflammatory syndrome, familial, Behcet-like 11 test
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
  • Autosomal dominant distal renal tubular acidosis1 test
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1 test
  • Autosomal dominant keratitis1 test
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome2 tests
  • Autosomal dominant lamellar ichthyosis1 test
  • Autosomal dominant mitochondrial myopathy with exercise intolerance1 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 51 test
  • Autosomal dominant nonsyndromic hearing loss 111 test
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 2B2 tests
  • Autosomal dominant nonsyndromic hearing loss 3A2 tests
  • Autosomal dominant nonsyndromic hearing loss 3B2 tests
  • Autosomal dominant nonsyndromic hearing loss 62 tests
  • Autosomal dominant nonsyndromic hearing loss 651 test
  • Autosomal dominant optic atrophy classic form2 tests
  • Autosomal dominant osteopetrosis 11 test
  • Autosomal dominant osteopetrosis 21 test
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
  • Autosomal dominant Parkinson disease 12 tests
  • Autosomal dominant Parkinson disease 42 tests
  • Autosomal dominant Parkinson disease 82 tests
  • Autosomal dominant popliteal pterygium syndrome1 test
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant Robinow syndrome 11 test
  • Autosomal dominant Robinow syndrome 21 test
  • Autosomal dominant sideroblastic anemia1 test
  • Autosomal dominant vitreoretinochoroidopathy2 tests
  • Autosomal recessive Alport syndrome2 tests
  • Autosomal recessive amelia1 test
  • Autosomal recessive ataxia due to ubiquinone deficiency1 test
  • Autosomal recessive ataxia, Beauce type1 test
  • Autosomal recessive bestrophinopathy2 tests
  • Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 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 distal spinal muscular atrophy 11 test
  • Autosomal recessive distal spinal muscular atrophy 21 test
  • Autosomal recessive DOPA responsive dystonia2 tests
  • Autosomal recessive early-onset Parkinson disease 231 test
  • Autosomal recessive early-onset Parkinson disease 62 tests
  • Autosomal recessive early-onset Parkinson disease 72 tests
  • Autosomal recessive hypophosphatemic bone disease1 test
  • Autosomal recessive inherited pseudoxanthoma elasticum1 test
  • Autosomal recessive juvenile Parkinson disease 21 test
  • Autosomal recessive keratitis-ichthyosis-deafness syndrome1 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 2J1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2O2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
  • Autosomal recessive nonsyndromic hearing loss 121 test
  • Autosomal recessive nonsyndromic hearing loss 161 test
  • Autosomal recessive nonsyndromic hearing loss 18A1 test
  • Autosomal recessive nonsyndromic hearing loss 1A6 tests
  • Autosomal recessive nonsyndromic hearing loss 1B2 tests
  • Autosomal recessive nonsyndromic hearing loss 21 test
  • Autosomal recessive nonsyndromic hearing loss 221 test
  • Autosomal recessive nonsyndromic hearing loss 231 test
  • Autosomal recessive nonsyndromic hearing loss 311 test
  • Autosomal recessive nonsyndromic hearing loss 41 test
  • Autosomal recessive nonsyndromic hearing loss 481 test
  • Autosomal recessive nonsyndromic hearing loss 771 test
  • Autosomal recessive nonsyndromic hearing loss 861 test
  • Autosomal recessive nonsyndromic hearing loss 971 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 proximal renal tubular acidosis1 test
  • Autosomal recessive pseudohypoaldosteronism type 13 tests
  • Autosomal recessive Robinow syndrome1 test
  • Autosomal recessive spastic paraplegia type 781 test
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Autosomal recessive spinocerebellar ataxia 121 test
  • Autosomal recessive spinocerebellar ataxia 131 test
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 161 test
  • Autosomal recessive spinocerebellar ataxia 171 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, 21 test
  • Avellino corneal dystrophy1 test
  • Ayme-Gripp syndrome1 test
  • Baller-Gerold syndrome1 test
  • BAP1-related tumor predisposition syndrome1 test
  • Bardet-Biedl syndrome 12 tests
  • Bardet-Biedl syndrome 111 test
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 142 tests
  • 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 221 test
  • Bardet-Biedl syndrome 31 test
  • Bardet-Biedl syndrome 61 test
  • Bardet-Biedl syndrome 81 test
  • Bartter disease type 11 test
  • Bartter disease type 21 test
  • Bartter disease type 51 test
  • Basal cell carcinoma, susceptibility to, 13 tests
  • Basal cell carcinoma, susceptibility to, 72 tests
  • Beaded hair3 tests
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Beckwith-Wiedemann syndrome1 test
  • Benign concentric annular macular dystrophy1 test
  • Benign familial hematuria2 tests
  • Bent bone dysplasia syndrome 11 test
  • Beta-D-mannosidosis1 test
  • Bethlem myopathy 1A1 test
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Biotin-responsive basal ganglia disease1 test
  • Birt-Hogg-Dube syndrome2 tests
  • Blau syndrome1 test
  • Blepharocheilodontic syndrome 12 tests
  • Blepharophimosis - intellectual disability syndrome, MKB type1 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
  • BLOOD GROUP--DIEGO SYSTEM1 test
  • BLOOD GROUP--FROESE1 test
  • BLOOD GROUP--SWANN SYSTEM1 test
  • BLOOD GROUP--WALDNER TYPE1 test
  • BLOOD GROUP--WRIGHT ANTIGEN1 test
  • Bloom syndrome1 test
  • Bone marrow failure syndrome 52 tests
  • Bone mineral density quantitative trait locus 11 test
  • Bone mineral density quantitative trait locus 181 test
  • Bone osteosarcoma5 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
  • Bothnia retinal dystrophy1 test
  • Brachydactyly type A1A1 test
  • Brachydactyly type A1D1 test
  • Brachydactyly type B11 test
  • Brachydactyly type B21 test
  • Brachydactyly type D1 test
  • Brachydactyly type E11 test
  • Brachydactyly type E21 test
  • Brachydactyly-arterial hypertension syndrome1 test
  • Brachydactyly-elbow wrist dysplasia syndrome1 test
  • Brachydactyly-syndactyly syndrome1 test
  • Brachyolmia-amelogenesis imperfecta syndrome1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia2 tests
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome 31 test
  • Branchiootorenal syndrome 21 test
  • Breast-ovarian cancer, familial, susceptibility to, 12 tests
  • Breast-ovarian cancer, familial, susceptibility to, 22 tests
  • Breast-ovarian cancer, familial, susceptibility to, 32 tests
  • Breast-ovarian cancer, familial, susceptibility to, 42 tests
  • Brittle cornea syndrome 11 test
  • Brittle cornea syndrome 21 test
  • Bronchiectasis with or without elevated sweat chloride 13 tests
  • Bronchiectasis with or without elevated sweat chloride 21 test
  • Bronchiectasis with or without elevated sweat chloride 31 test
  • Brooke-Spiegler syndrome1 test
  • Bruck syndrome 21 test
  • Brugada syndrome 12 tests
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 51 test
  • Brugada syndrome 71 test
  • Brugada syndrome 91 test
  • C1Q deficiency3 tests
  • Café-au-lait macules with pulmonary stenosis2 tests
  • Calvarial doughnut lesions-bone fragility syndrome1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
  • Camptomelic dysplasia2 tests
  • Capillary infantile hemangioma1 test
  • Capillary malformation-arteriovenous malformation 12 tests
  • Capillary malformation-arteriovenous malformation 21 test
  • CARASIL syndrome1 test
  • Carcinoma of pancreas7 tests
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome1 test
  • Cardiac arrhythmia, ankyrin-B-related1 test
  • Cardiac valvular defect, developmental1 test
  • Cardiac valvular dysplasia, X-linked2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
  • Cardiofaciocutaneous syndrome 11 test
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiofaciocutaneous syndrome 31 test
  • Cardiofaciocutaneous syndrome 41 test
  • Cardiomyopathy, dilated, 2E1 test
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2 tests
  • Cardiomyopathy, familial restrictive, 11 test
  • Cardiomyopathy, familial restrictive, 31 test
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
  • Cardiospondylocarpofacial syndrome1 test
  • Carney complex, type 12 tests
  • Carney-Stratakis syndrome3 tests
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carpal tunnel syndrome 11 test
  • Cataract 1 multiple types1 test
  • Cataract 11 multiple types1 test
  • Cataract 15 multiple types1 test
  • Cataract 19 multiple types1 test
  • Cataract 20 multiple types1 test
  • Cataract 21 multiple types1 test
  • Cataract 301 test
  • Cataract 34 multiple types1 test
  • Cataract 361 test
  • Cataract 381 test
  • Cataract 401 test
  • Cataract 412 tests
  • Cataract 431 test
  • Cataract 441 test
  • Cataract 451 test
  • Cataract 46 juvenile-onset1 test
  • Cataract 491 test
  • Cataract 5 multiple types1 test
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
  • Catecholaminergic polymorphic ventricular tachycardia 12 tests
  • Catecholaminergic polymorphic ventricular tachycardia 21 test
  • Catecholaminergic polymorphic ventricular tachycardia 31 test
  • Catecholaminergic polymorphic ventricular tachycardia 41 test
  • Catecholaminergic polymorphic ventricular tachycardia 51 test
  • CBL-related disorder1 test
  • CEDNIK syndrome1 test
  • Cenani-Lenz syndactyly syndrome1 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2 tests
  • Cerebellar ataxia-hypogonadism syndrome1 test
  • Cerebellar atrophy, developmental delay, and seizures1 test
  • Cerebellar atrophy, visual impairment, and psychomotor retardation;1 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 arteriovenous malformation1 test
  • Cerebral cavernous malformation2 tests
  • Cerebral cavernous malformation 22 tests
  • Cerebral cavernous malformation 32 tests
  • Cerebral palsy, spastic quadriplegic, 21 test
  • Cerebro-costo-mandibular syndrome1 test
  • Cerebrooculofacioskeletal syndrome 21 test
  • Cerebroretinal microangiopathy with calcifications and cysts 21 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
  • Cervical cancer1 test
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2L1 test
  • Charcot-Marie-Tooth disease axonal type 2S1 test
  • Charcot-Marie-Tooth disease axonal type 2T1 test
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease axonal type 2X1 test
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease dominant intermediate E1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 1C1 test
  • Charcot-Marie-Tooth disease type 1E2 tests
  • Charcot-Marie-Tooth disease type 1F1 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 2E1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2Y1 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 X-linked dominant 11 test
  • 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 2HH1 test
  • Charcot-Marie-Tooth disease, demyelinating, IIA 1I1 test
  • Charcot-Marie-Tooth disease, dominant intermediate G1 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • CHARGE association1 test
  • Charlevoix-Saguenay spastic ataxia1 test
  • Chilblain lupus 11 test
  • Chilblain lupus 21 test
  • Child syndrome1 test
  • Childhood onset GLUT1 deficiency syndrome 21 test
  • Cholestasis-pigmentary retinopathy-cleft palate syndrome1 test
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Chorea-acanthocytosis1 test
  • Choroid plexus papilloma2 tests
  • Choroidal dystrophy, central areolar 22 tests
  • Choroidal dystrophy, central areolar, 11 test
  • Choroideremia2 tests
  • Christianson syndrome1 test
  • Chromosome 2p16.3 deletion syndrome1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chuvash polycythemia2 tests
  • Chédiak-Higashi syndrome1 test
  • CK syndrome1 test
  • CLAPO syndrome1 test
  • Clark-Baraitser syndrome1 test
  • Classic dopamine transporter deficiency syndrome1 test
  • Cleidocranial dysostosis1 test
  • CLOVES syndrome1 test
  • Clubfoot1 test
  • COACH syndrome 11 test
  • COACH syndrome 31 test
  • Cobblestone lissencephaly without muscular or ocular involvement1 test
  • CODAS syndrome1 test
  • Coenzyme Q10 deficiency, primary, 31 test
  • Coenzyme q10 deficiency, primary, 91 test
  • Coffin-Siris syndrome 11 test
  • Coffin-Siris syndrome 101 test
  • Coffin-Siris syndrome 51 test
  • Coffin-Siris syndrome 81 test
  • Cognitive impairment with or without cerebellar ataxia1 test
  • Cohen syndrome1 test
  • Cole-Carpenter syndrome 11 test
  • Cole-Carpenter syndrome 21 test
  • Coloboma of optic nerve1 test
  • Coloboma, ocular, autosomal dominant1 test
  • Colorectal cancer14 tests
  • Colorectal cancer, hereditary nonpolyposis, type 22 tests
  • Colorectal cancer, hereditary nonpolyposis, type 62 tests
  • Colorectal cancer, susceptibility to, 102 tests
  • Colorectal cancer, susceptibility to, 122 tests
  • Combined immunodeficiency due to ORAI1 deficiency1 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 22 tests
  • Combined oxidative phosphorylation defect type 251 test
  • Combined oxidative phosphorylation defect type 71 test
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined PSAP 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
  • Cone dystrophy 41 test
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 151 test
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 21 test
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 221 test
  • Cone-rod dystrophy 32 tests
  • 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 loss 11 test
  • Cone-rod dystrophy and hearing loss 21 test
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
  • Congenital bile acid synthesis defect 51 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital contractural arachnodactyly1 test
  • Congenital diarrhea 5 with tufting enteropathy2 tests
  • Congenital disorder of deglycosylation 11 test
  • Congenital heart defects and ectodermal dysplasia1 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, 71 test
  • Congenital hereditary endothelial dystrophy of cornea1 test
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
  • Congenital macrodactylia1 test
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myasthenic syndrome 131 test
  • Congenital myasthenic syndrome 161 test
  • Congenital myasthenic syndrome 171 test
  • Congenital myasthenic syndrome 71 test
  • Congenital primary aphakia1 test
  • Congenital reticular ichthyosiform erythroderma1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
  • Congenital stationary night blindness 1A1 test
  • Congenital stationary night blindness 1B1 test
  • Congenital stationary night blindness 1C2 tests
  • Congenital stationary night blindness 1D1 test
  • Congenital stationary night blindness 1F1 test
  • Congenital stationary night blindness 1G1 test
  • Congenital stationary night blindness 2A1 test
  • Congenital stationary night blindness autosomal dominant 12 tests
  • Congenital stationary night blindness autosomal dominant 21 test
  • Congenital stationary night blindness autosomal dominant 31 test
  • Congenital stromal corneal dystrophy1 test
  • Conotruncal heart malformations3 tests
  • Corneal dystrophy, Fuchs endothelial, 11 test
  • Corneal dystrophy, Fuchs endothelial, 32 tests
  • 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, Meesmann, 11 test
  • Corneal dystrophy, Meesmann, 21 test
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 41 test
  • Corpus callosum agenesis-abnormal genitalia syndrome1 test
  • Cortical dysplasia, complex, with other brain malformations 91 test
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Costello syndrome1 test
  • Cowden syndrome 12 tests
  • Cowden syndrome 51 test
  • Cowden syndrome 61 test
  • Coxopodopatellar syndrome1 test
  • Craniodiaphyseal dysplasia, autosomal dominant1 test
  • Cranioectodermal dysplasia 11 test
  • Cranioectodermal dysplasia 21 test
  • Cranioectodermal dysplasia 31 test
  • Cranioectodermal dysplasia 41 test
  • Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11 test
  • Craniofacial-deafness-hand syndrome1 test
  • Craniometaphyseal dysplasia, autosomal recessive1 test
  • Craniosynostosis 21 test
  • Craniosynostosis 5, susceptibility to1 test
  • Craniosynostosis 61 test
  • Craniosynostosis 71 test
  • Craniosynostosis and dental anomalies1 test
  • Crouzon syndrome1 test
  • Crouzon syndrome-acanthosis nigricans syndrome1 test
  • Cryohydrocytosis1 test
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome1 test
  • Currarino triad1 test
  • Curry-Hall syndrome1 test
  • Cutis laxa, autosomal dominant 11 test
  • Cutis laxa, autosomal recessive, type 1B1 test
  • Cyclical neutropenia1 test
  • Cystic fibrosis3 tests
  • Cystic leukoencephalopathy without megalencephaly1 test
  • Cystinuria2 tests
  • Danon disease1 test
  • Deafness dystonia syndrome1 test
  • Deafness, congenital heart defects, and posterior embryotoxon1 test
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of phosphoserine phosphatase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Dejerine-Sottas disease4 tests
  • Dent disease type 21 test
  • Dermatitis, atopic, 21 test
  • Dermatofibrosis lenticularis disseminata1 test
  • Dermatopathia pigmentosa reticularis2 tests
  • DeSanto-Shinawi syndrome due to WAC point mutation1 test
  • Desbuquois dysplasia 21 test
  • Desmin-related myofibrillar myopathy1 test
  • Desmoid disease, hereditary2 tests
  • Developmental and epileptic encephalopathy 6B1 test
  • Developmental and epileptic encephalopathy 981 test
  • Developmental and epileptic encephalopathy 992 tests
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 111 test
  • Developmental and epileptic encephalopathy, 121 test
  • Developmental and epileptic encephalopathy, 131 test
  • Developmental and epileptic encephalopathy, 141 test
  • Developmental and epileptic encephalopathy, 151 test
  • Developmental and epileptic encephalopathy, 161 test
  • Developmental and epileptic encephalopathy, 181 test
  • Developmental and epileptic encephalopathy, 211 test
  • Developmental and epileptic encephalopathy, 251 test
  • Developmental and epileptic encephalopathy, 261 test
  • Developmental and epileptic encephalopathy, 281 test
  • Developmental and epileptic encephalopathy, 31 test
  • Developmental and epileptic encephalopathy, 301 test
  • Developmental and epileptic encephalopathy, 321 test
  • Developmental and epileptic encephalopathy, 341 test
  • Developmental and epileptic encephalopathy, 351 test
  • Developmental and epileptic encephalopathy, 391 test
  • Developmental and epileptic encephalopathy, 41 test
  • Developmental and epileptic encephalopathy, 411 test
  • Developmental and epileptic encephalopathy, 421 test
  • Developmental and epileptic encephalopathy, 441 test
  • Developmental and epileptic encephalopathy, 491 test
  • Developmental and epileptic encephalopathy, 51 test
  • Developmental and epileptic encephalopathy, 511 test
  • Developmental and epileptic encephalopathy, 521 test
  • Developmental and epileptic encephalopathy, 531 test
  • Developmental and epileptic encephalopathy, 541 test
  • Developmental and epileptic encephalopathy, 551 test
  • Developmental and epileptic encephalopathy, 561 test
  • Developmental and epileptic encephalopathy, 571 test
  • Developmental and epileptic encephalopathy, 581 test
  • Developmental and epileptic encephalopathy, 621 test
  • Developmental and epileptic encephalopathy, 641 test
  • Developmental and epileptic encephalopathy, 661 test
  • Developmental and epileptic encephalopathy, 671 test
  • Developmental and epileptic encephalopathy, 681 test
  • Developmental and epileptic encephalopathy, 71 test
  • Developmental and epileptic encephalopathy, 701 test
  • Developmental and epileptic encephalopathy, 721 test
  • Developmental and epileptic encephalopathy, 731 test
  • Developmental and epileptic encephalopathy, 751 test
  • Developmental and epileptic encephalopathy, 771 test
  • Developmental and epileptic encephalopathy, 791 test
  • Developmental and epileptic encephalopathy, 81 test
  • Developmental and epileptic encephalopathy, 801 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, 881 test
  • Developmental and epileptic encephalopathy, 91 test
  • Developmental delay and seizures with or without movement abnormalities1 test
  • Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
  • Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1 test
  • Diabetes insipidus, nephrogenic, autosomal1 test
  • Diabetes insipidus, nephrogenic, X-linked1 test
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia1 test
  • Diaphyseal medullary stenosis-bone malignancy syndrome1 test
  • Diastrophic dysplasia1 test
  • Dicarboxylic aminoaciduria1 test
  • Diffuse nonepidermolytic palmoplantar keratoderma1 test
  • DiGeorge syndrome1 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1BB2 tests
  • Dilated cardiomyopathy 1C1 test
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1D1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E2 tests
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1GG2 tests
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1NN1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1U2 tests
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Distal myopathy, Tateyama type1 test
  • Dominant dystrophic epidermolysis bullosa with absence of skin2 tests
  • Donnai-Barrow syndrome1 test
  • DOORS syndrome1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Dowling-Degos disease 12 tests
  • DPAGT1-congenital disorder of glycosylation1 test
  • Drash syndrome1 test
  • Duane-radial ray syndrome1 test
  • Dystonia 122 tests
  • Dystonia 162 tests
  • Dystonia 271 test
  • Dystonia 28, childhood-onset1 test
  • Dystonia 321 test
  • Dystonia 52 tests
  • Dystonia 91 test
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
  • Early-onset generalized limb-onset dystonia2 tests
  • Early-onset Lafora body disease1 test
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • Early-onset Parkinson disease 201 test
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1 test
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome2 tests
  • EAST 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 and immunodeficiency 11 test
  • Ectopia lentis 1, isolated, autosomal dominant2 tests
  • Ectopia lentis 2, isolated, autosomal recessive1 test
  • Ectopia lentis et pupillae1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
  • EEM syndrome1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
  • Ehlers-Danlos syndrome, arthrochalasia type1 test
  • Ehlers-danlos syndrome, arthrochalasia type, 22 tests
  • Ehlers-Danlos syndrome, cardiac valvular type2 tests
  • Ehlers-Danlos syndrome, classic type, 12 tests
  • Ehlers-Danlos syndrome, classic type, 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, spondylocheirodysplastic type1 test
  • Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
  • Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Eiken syndrome1 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 7, autosomal dominant1 test
  • Encephalopathy due to GLUT1 deficiency1 test
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
  • Endometrial carcinoma5 tests
  • Enhanced S-cone syndrome1 test
  • Epidermal nevus4 tests
  • Epidermolysis bullosa pruriginosa2 tests
  • Epidermolysis bullosa simplex 1A, generalized severe2 tests
  • Epidermolysis bullosa simplex 1C, localized2 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2 tests
  • Epidermolysis bullosa simplex 2A, generalized severe2 tests
  • Epidermolysis bullosa simplex 2B, generalized intermediate2 tests
  • Epidermolysis bullosa simplex 2C, localized2 tests
  • Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive2 tests
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
  • Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
  • Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1 test
  • Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
  • Epidermolysis bullosa simplex due to plakophilin deficiency1 test
  • Epidermolysis bullosa simplex with migratory circinate erythema2 tests
  • Epidermolysis bullosa simplex with mottled pigmentation2 tests
  • Epidermolysis bullosa simplex with nail dystrophy1 test
  • Epidermolysis bullosa simplex, Koebner type2 tests
  • Epidermolysis bullosa simplex, Ogna type1 test
  • Epidermolysis bullosa, junctional 2A, intermediate1 test
  • Epidermolysis bullosa, junctional 2B, severe1 test
  • Epidermolysis bullosa, junctional 3A, intermediate1 test
  • Epidermolysis bullosa, junctional 3B, severe1 test
  • Epidermolysis bullosa, junctional 4, intermediate1 test
  • Epidermolysis bullosa, junctional 5A, intermediate1 test
  • Epidermolysis bullosa, junctional 6, with pyloric atresia1 test
  • Epidermolytic hyperkeratosis 12 tests
  • Epilepsy, early-onset, vitamin B6-dependent1 test
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 31 test
  • Epilepsy, familial focal, with variable foci 41 test
  • Epilepsy, familial temporal lobe, 11 test
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, idiopathic generalized, susceptibility to, 161 test
  • Epilepsy, progressive myoclonic, 111 test
  • Epilepsy, progressive myoclonic, 121 test
  • Epilepsy, progressive myoclonic, 1B1 test
  • Epileptic encephalopathy, infantile or early childhood, 11 test
  • Episodic ataxia type 11 test
  • Episodic ataxia type 21 test
  • Episodic ataxia type 61 test
  • Episodic ataxia, type 91 test
  • Episodic kinesigenic dyskinesia 11 test
  • Episodic pain syndrome, familial, 21 test
  • Epithelial basement membrane dystrophy1 test
  • Epithelial recurrent erosion dystrophy1 test
  • Epsilon-trimethyllysine hydroxylase deficiency1 test
  • Erythrokeratodermia variabilis et progressiva 12 tests
  • Erythrokeratodermia variabilis et progressiva 21 test
  • Erythrokeratodermia variabilis et progressiva 31 test
  • Erythrokeratodermia variabilis et progressiva 41 test
  • Erythrokeratodermia variabilis et progressiva 51 test
  • Erythrokeratodermia variabilis et progressiva 71 test
  • Euthyroid goiter1 test
  • Even-plus syndrome1 test
  • Exudative vitreoretinopathy 2, X-linked1 test
  • Exudative vitreoretinopathy 41 test
  • Exudative vitreoretinopathy 61 test
  • Exudative vitreoretinopathy 71 test
  • Fabry disease1 test
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
  • Familial adenomatous polyposis 12 tests
  • Familial adenomatous polyposis 22 tests
  • Familial adenomatous polyposis 31 test
  • Familial adenomatous polyposis 41 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial amyloid neuropathy1 test
  • Familial apolipoprotein C-II deficiency1 test
  • Familial atrial myxoma2 tests
  • Familial benign pemphigus1 test
  • Familial cancer of breast18 tests
  • 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 cylindromatosis1 test
  • Familial digital arthropathy-brachydactyly1 test
  • Familial encephalopathy with neuroserpin inclusion bodies1 test
  • Familial episodic pain syndrome with predominantly lower limb involvement1 test
  • Familial episodic pain syndrome with predominantly upper body involvement1 test
  • Familial expansile osteolysis1 test
  • Familial hemophagocytic lymphohistiocytosis 21 test
  • Familial hemophagocytic lymphohistiocytosis 31 test
  • Familial hemophagocytic lymphohistiocytosis 41 test
  • Familial hemophagocytic lymphohistiocytosis 51 test
  • Familial hyperaldosteronism type III1 test
  • Familial hypobetalipoproteinemia 11 test
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial infantile myoclonic epilepsy1 test
  • Familial isolated deficiency of vitamin E1 test
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial juvenile hyperuricemic nephropathy type 21 test
  • Familial Mediterranean fever1 test
  • Familial Mediterranean fever, autosomal dominant1 test
  • Familial medullary thyroid carcinoma2 tests
  • Familial meningioma6 tests
  • Familial multiple nevi flammei1 test
  • Familial partial lipodystrophy, Dunnigan type1 test
  • Familial scaphocephaly syndrome, McGillivray type1 test
  • Familial spontaneous pneumothorax2 tests
  • Familial temporal lobe epilepsy 71 test
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type1 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi anemia complementation group B1 test
  • Fanconi anemia complementation group C1 test
  • Fanconi anemia complementation group D12 tests
  • Fanconi anemia complementation group J2 tests
  • Fanconi anemia complementation group N2 tests
  • Fanconi anemia complementation group O2 tests
  • Fanconi anemia complementation group P1 test
  • Fanconi anemia complementation group T1 test
  • Fanconi anemia complementation group U1 test
  • Fanconi anemia, complementation group S2 tests
  • Fanconi renotubular syndrome 21 test
  • Fanconi-Bickel syndrome1 test
  • Fasting plasma glucose level quantitative trait locus 51 test
  • Fatal familial insomnia1 test
  • Febrile seizures, familial, 41 test
  • Feingold syndrome type 11 test
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies1 test
  • FG syndrome 11 test
  • FG syndrome 22 tests
  • Fibromatosis, gingival, 11 test
  • Fibromuscular dysplasia, multifocal2 tests
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
  • Fibrous dysplasia of jaw1 test
  • Finnish congenital nephrotic syndrome1 test
  • Fish-eye disease1 test
  • Fleck corneal dystrophy1 test
  • Floating-Harbor syndrome1 test
  • Focal dermal hypoplasia1 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 71 test
  • Foveal hypoplasia 11 test
  • Frank-Ter Haar syndrome1 test
  • Fraser syndrome 31 test
  • Frasier syndrome1 test
  • Frontometaphyseal dysplasia 12 tests
  • Frontometaphyseal dysplasia 21 test
  • Frontonasal dysplasia with alopecia and genital anomaly1 test
  • Frontorhiny1 test
  • Frontotemporal dementia3 tests
  • 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 81 test
  • Fuhrmann syndrome1 test
  • Fumarase deficiency1 test
  • Gallbladder disease 41 test
  • Galloway-Mowat syndrome 11 test
  • Galloway-Mowat syndrome 71 test
  • Galloway-Mowat syndrome 81 test
  • Gastric adenocarcinoma and proximal polyposis of the stomach2 tests
  • Gastric cancer8 tests
  • Gastrointestinal stromal tumor2 tests
  • Gaucher disease due to saposin C deficiency1 test
  • Geleophysic dysplasia 11 test
  • Geleophysic dysplasia 22 tests
  • Geleophysic dysplasia 31 test
  • Generalized dominant dystrophic epidermolysis bullosa2 tests
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
  • Genitopatellar syndrome1 test
  • Germ cell tumor of testis3 tests
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Ghosal hematodiaphyseal dysplasia1 test
  • Gillespie syndrome1 test
  • Glaucoma 3, primary congenital, E1 test
  • Glaucoma, normal tension, susceptibility to3 tests
  • Glioma susceptibility 12 tests
  • Glioma susceptibility 22 tests
  • Glioma susceptibility 32 tests
  • Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1 test
  • Global developmental delay with speech and behavioral abnormalities1 test
  • Glomerulopathy with fibronectin deposits 21 test
  • Glomuvenous malformation1 test
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
  • GM1 gangliosidosis type 21 test
  • GM1 gangliosidosis type 31 test
  • Gnathodiaphyseal dysplasia1 test
  • Gorlin syndrome2 tests
  • Graft-versus-host disease, susceptibility to1 test
  • Grange syndrome1 test
  • Greenberg dysplasia1 test
  • Griscelli syndrome type 21 test
  • Groenouw corneal dystrophy type I1 test
  • Growth delay due to insulin-like growth factor I resistance1 test
  • Growth delay due to insulin-like growth factor type 1 deficiency1 test
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • GTP cyclohydrolase I deficiency with hyperphenylalaninemia2 tests
  • Guillain-Barre syndrome, familial2 tests
  • Guttmacher syndrome1 test
  • H syndrome1 test
  • Haim-Munk syndrome1 test
  • Hair morphology 11 test
  • Hajdu-Cheney syndrome1 test
  • Hand-foot-genital syndrome1 test
  • Hao-Fountain syndrome1 test
  • Hearing loss, autosomal dominant 34, with or without inflammation1 test
  • Hearing loss, autosomal recessive 571 test
  • Hearing loss, X-linked 11 test
  • Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
  • Heart-hand syndrome, Slovenian type1 test
  • Heimler syndrome 11 test
  • Heimler syndrome 21 test
  • Helicoid peripapillary chorioretinal degeneration1 test
  • Hemochromatosis type 11 test
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hepatitis B virus, susceptibility to1 test
  • Hepatocellular carcinoma7 tests
  • Hereditary cryohydrocytosis with reduced stomatin1 test
  • Hereditary diffuse gastric adenocarcinoma2 tests
  • Hereditary disease95 tests
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary liability to pressure palsies2 tests
  • Hereditary lymphedema type I1 test
  • Hereditary motor and sensory neuropathy, Okinawa type1 test
  • Hereditary mucoepithelial dysplasia1 test
  • Hereditary pancreatitis4 tests
  • Hereditary sensory and autonomic neuropathy type 61 test
  • Hereditary sensory and autonomic neuropathy type 71 test
  • Hereditary spastic paraplegia 101 test
  • Hereditary spastic paraplegia 111 test
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 151 test
  • Hereditary spastic paraplegia 21 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 301 test
  • Hereditary spastic paraplegia 311 test
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 41 test
  • Hereditary spastic paraplegia 441 test
  • Hereditary spastic paraplegia 451 test
  • Hereditary spastic paraplegia 471 test
  • Hereditary spastic paraplegia 491 test
  • Hereditary spastic paraplegia 511 test
  • Hereditary spastic paraplegia 551 test
  • Hereditary spastic paraplegia 571 test
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 71 test
  • Hereditary spastic paraplegia 721 test
  • Hereditary spastic paraplegia 751 test
  • Hereditary spastic paraplegia 81 test
  • Hereditary spherocytosis type 41 test
  • Hermansky-Pudlak syndrome 21 test
  • Hermansky-Pudlak syndrome 91 test
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 5, autosomal1 test
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotaxy, visceral, 8, autosomal1 test
  • Heterotopia, periventricular, X-linked dominant2 tests
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • High density lipoprotein cholesterol level quantitative trait locus 121 test
  • High density lipoprotein cholesterol level quantitative trait locus 61 test
  • Hirschsprung disease, susceptibility to, 12 tests
  • Hirschsprung disease, susceptibility to, 31 test
  • Hirschsprung disease, susceptibility to, 41 test
  • Holoprosencephaly 21 test
  • Holoprosencephaly 31 test
  • Holoprosencephaly 41 test
  • Holoprosencephaly 51 test
  • Holoprosencephaly 71 test
  • Holt-Oram syndrome1 test
  • Huntington disease1 test
  • Huntington disease-like 11 test
  • Hurler syndrome1 test
  • Hutchinson-Gilford syndrome1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydrocephalus, congenital, 3, with brain anomalies1 test
  • Hydrolethalus syndrome 21 test
  • Hyperalphalipoproteinemia 11 test
  • Hypercalcemia, infantile, 21 test
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, familial, 13 tests
  • Hypercholesterolemia, familial, 41 test
  • Hyperekplexia 11 test
  • Hyperekplexia 31 test
  • Hyperglycinuria3 tests
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperkalemic periodic paralysis1 test
  • Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia, type 1D1 test
  • Hyperlipoproteinemia, type I1 test
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hyperostosis cranialis interna1 test
  • Hyperparathyroidism, transient neonatal1 test
  • Hyperphosphatasemia with bone disease1 test
  • Hyperthyroxinemia, dystransthyretinemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertriglyceridemia 11 test
  • Hypertriglyceridemia 21 test
  • Hypertrophic cardiomyopathy 13 tests
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 111 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 42 tests
  • Hypertrophic cardiomyopathy 61 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 91 test
  • Hypertrophic osteoarthropathy, primary, autosomal dominant1 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
  • Hypoalphalipoproteinemia, primary, 11 test
  • Hypoalphalipoproteinemia, primary, 21 test
  • Hypoalphalipoproteinemia, primary, 2, intermediate1 test
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 26 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 6 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis, type 11 test
  • Hypokalemic periodic paralysis, type 21 test
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
  • Hypomyelinating leukodystrophy 101 test
  • Hypomyelinating leukodystrophy 111 test
  • Hypomyelinating leukodystrophy 121 test
  • Hypomyelinating leukodystrophy 21 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
  • Hypophosphatemic nephrolithiasis/osteoporosis 11 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypopigmentation, organomegaly, and delayed myelination and development1 test
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
  • Hypoplastic left heart syndrome 11 test
  • Hypoplastic left heart syndrome 21 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Hypotrichosis 141 test
  • Hypotrichosis 21 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis hystrix of Curth-Macklin1 test
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis vulgaris1 test
  • Ichthyosis, annular epidermolytic 12 tests
  • Ichthyosis, congenital, autosomal recessive 121 test
  • Ichthyosis, congenital, autosomal recessive 131 test
  • Ichthyosis, congenital, autosomal recessive 141 test
  • Ichthyosis, hystrix-like, with hearing loss2 tests
  • IFAP syndrome 1, with or without BRESHECK syndrome1 test
  • IFAP syndrome 21 test
  • IgE responsiveness, atopic1 test
  • IMAGe syndrome1 test
  • Iminoglycinuria3 tests
  • Immunodeficiency 331 test
  • Immunodeficiency 361 test
  • Immunodeficiency 951 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
  • Incontinentia pigmenti syndrome1 test
  • Infantile cerebellar-retinal degeneration1 test
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
  • Infantile convulsions and choreoathetosis1 test
  • Infantile cortical hyperostosis1 test
  • Infantile GM1 gangliosidosis1 test
  • Infantile liver failure syndrome 21 test
  • Infantile nephronophthisis1 test
  • Infantile neuroaxonal dystrophy1 test
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 251 test
  • Inflammatory bowel disease 281 test
  • Inflammatory bowel disease 301 test
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy1 test
  • Inherited Creutzfeldt-Jakob disease1 test
  • Inherited obesity1 test
  • Inosine triphosphatase deficiency1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Intellectual developmental disorder 611 test
  • Intellectual developmental disorder and retinitis pigmentosa; IDDRP1 test
  • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1 test
  • Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1 test
  • Intellectual disability and myopathy syndrome1 test
  • Intellectual disability, autosomal dominant 151 test
  • Intellectual disability, autosomal dominant 161 test
  • Intellectual disability, autosomal dominant 201 test
  • Intellectual disability, autosomal dominant 271 test
  • Intellectual disability, autosomal dominant 391 test
  • Intellectual disability, autosomal dominant 411 test
  • Intellectual disability, autosomal dominant 51 test
  • Intellectual disability, autosomal dominant 501 test
  • Intellectual disability, autosomal dominant 581 test
  • Intellectual disability, autosomal dominant 91 test
  • Intellectual disability, autosomal recessive 121 test
  • Intellectual disability, autosomal recessive 131 test
  • Intellectual disability, autosomal recessive 571 test
  • Intellectual disability, autosomal recessive 651 test
  • Intellectual disability, X-linked 11 test
  • Intellectual disability, X-linked, syndromic, 351 test
  • Intellectual disability, X-linked, with or without seizures, arx-related1 test
  • Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1 test
  • Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency2 tests
  • Irido-corneo-trabecular dysgenesis1 test
  • Isolated congenital digital clubbing1 test
  • Isolated focal cortical dysplasia type II4 tests
  • Isolated focal non-epidermolytic palmoplantar keratoderma1 test
  • Isolated microphthalmia 21 test
  • Isolated microphthalmia 51 test
  • Isolated optic nerve hypoplasia1 test
  • Jackson-Weiss syndrome1 test
  • Jawad syndrome1 test
  • Jervell and Lange-Nielsen syndrome 12 tests
  • Jervell and Lange-Nielsen syndrome 22 tests
  • Joubert syndrome 11 test
  • Joubert syndrome 101 test
  • Joubert syndrome 131 test
  • Joubert syndrome 141 test
  • Joubert syndrome 161 test
  • Joubert syndrome 181 test
  • Joubert syndrome 21 test
  • Joubert syndrome 201 test
  • Joubert syndrome 221 test
  • Joubert syndrome 231 test
  • Joubert syndrome 241 test
  • Joubert syndrome 261 test
  • Joubert syndrome 271 test
  • Joubert syndrome 281 test
  • Joubert syndrome 321 test
  • Joubert syndrome 331 test
  • Joubert syndrome 351 test
  • Joubert syndrome 371 test
  • Joubert syndrome 381 test
  • Joubert syndrome 391 test
  • Joubert syndrome 401 test
  • Joubert syndrome 51 test
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 81 test
  • Joubert syndrome with renal defect1 test
  • Junctional epidermolysis bullosa gravis of Herlitz1 test
  • Junctional epidermolysis bullosa with pyloric atresia1 test
  • Junctional epidermolysis bullosa, non-Herlitz type1 test
  • Juvenile cataract-microcornea-renal glucosuria syndrome1 test
  • Juvenile myelomonocytic leukemia4 tests
  • Juvenile polyposis syndrome4 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
  • Juvenile primary lateral sclerosis1 test
  • Juvenile retinoschisis1 test
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • Kahrizi syndrome1 test
  • Karyomegalic interstitial nephritis1 test
  • Keratitis fugax hereditaria1 test
  • Keratoconus 11 test
  • Keratoconus 91 test
  • Keratosis follicularis1 test
  • Keratosis follicularis spinulosa decalvans, X-linked1 test
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
  • Keratosis palmoplantaris striata 22 tests
  • Keratosis palmoplantaris striata 31 test
  • Keutel syndrome1 test
  • Kindler syndrome1 test
  • Kleefstra syndrome 21 test
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1 test
  • Klippel-Feil syndrome 2, autosomal recessive1 test
  • Knuckle pads, deafness AND leukonychia syndrome2 tests
  • Koolen-de Vries syndrome1 test
  • Krabbe disease due to saposin A deficiency1 test
  • Kufor-Rakeb syndrome1 test
  • Kuru, susceptibility to1 test
  • Kury-Isidor syndrome1 test
  • L-2-hydroxyglutaric aciduria1 test
  • LADD syndrome 12 tests
  • Lafora disease1 test
  • LAMB2-related infantile-onset nephrotic syndrome1 test
  • Langer mesomelic dysplasia syndrome2 tests
  • Large congenital melanocytic nevus2 tests
  • Laryngo-onycho-cutaneous syndrome1 test
  • Late-onset retinal degeneration1 test
  • Lateral meningocele syndrome1 test
  • Lathosterolosis1 test
  • Lattice corneal dystrophy Type I1 test
  • Lattice corneal dystrophy Type III1 test
  • Laurence-Moon syndrome1 test
  • Laurin-Sandrow syndrome1 test
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 101 test
  • Leber congenital amaurosis 112 tests
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 131 test
  • Leber congenital amaurosis 141 test
  • Leber congenital amaurosis 151 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 191 test
  • Leber congenital amaurosis 22 tests
  • 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 102 tests
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 81 test
  • Legius syndrome2 tests
  • Lenz-Majewski hyperostosis syndrome1 test
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Leri-Weill dyschondrosteosis2 tests
  • Lethal acantholytic epidermolysis bullosa2 tests
  • Lethal congenital glycogen storage disease of heart1 test
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
  • Lethal Kniest-like syndrome1 test
  • Lethal tight skin contracture syndrome1 test
  • Leukocyte adhesion deficiency type II1 test
  • Leukodystrophy and acquired microcephaly with or without dystonia;1 test
  • Leukodystrophy, hypomyelinating, 141 test
  • Leukodystrophy, hypomyelinating, 161 test
  • Leukodystrophy, hypomyelinating, 211 test
  • Leukoencephalopathy with vanishing white matter 11 test
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
  • Lewy body dementia2 tests
  • Li-Fraumeni syndrome 12 tests
  • Li-Fraumeni syndrome 22 tests
  • Liang-Wang syndrome1 test
  • Liberfarb syndrome1 test
  • Liddle syndrome 11 test
  • Liddle syndrome 21 test
  • Liddle syndrome 31 test
  • Limb-mammary syndrome1 test
  • Linear nevus sebaceous syndrome3 tests
  • Lipase deficiency, combined1 test
  • Lipodystrophy, partial, acquired, susceptibility to1 test
  • Lipoic acid synthetase deficiency1 test
  • Lipoprotein glomerulopathy1 test
  • Lipoyl transferase 1 deficiency1 test
  • Lissencephaly 101 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 due to LIS1 mutation2 tests
  • Lissencephaly due to TUBA1A mutation1 test
  • Lissencephaly type 1 due to doublecortin gene mutation2 tests
  • Loeys-Dietz syndrome 11 test
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 41 test
  • Long QT syndrome 12 tests
  • Long QT syndrome 101 test
  • 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 22 tests
  • Long QT syndrome 32 tests
  • Long QT syndrome 52 tests
  • Long QT syndrome 62 tests
  • Long qt syndrome 81 test
  • Long QT syndrome 91 test
  • Lopes-Maciel-Rodan syndrome1 test
  • Loricrin keratoderma1 test
  • LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 71 test
  • Lowe syndrome1 test
  • Lower motor neuron syndrome with late-adult onset1 test
  • Lowry-Wood syndrome1 test
  • Lung cancer4 tests
  • Lymphangiomyomatosis4 tests
  • Lymphatic malformation 31 test
  • Lymphatic malformation 71 test
  • Lymphoma, non-Hodgkin, familial1 test
  • Lymphoproliferative syndrome 11 test
  • Lymphoproliferative syndrome 21 test
  • Lynch syndrome 12 tests
  • Lynch syndrome 42 tests
  • Lynch syndrome 52 tests
  • Lynch syndrome 82 tests
  • Lysinuric protein intolerance1 test
  • Macrocephaly-autism syndrome2 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macular corneal dystrophy1 test
  • Macular degeneration, early-onset1 test
  • Macular degeneration, X-linked atrophic2 tests
  • Macular dystrophy with central cone involvement1 test
  • Majeed syndrome1 test
  • Malaria, susceptibility to1 test
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant tumor of esophagus3 tests
  • Malignant tumor of prostate8 tests
  • Malignant tumor of urinary bladder4 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome2 tests
  • Mandibuloacral dysplasia with type A lipodystrophy1 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Marbach-Rustad progeroid syndrome1 test
  • Marfan syndrome2 tests
  • Marinesco-Sjögren syndrome1 test
  • Martsolf syndrome 11 test
  • Martsolf syndrome 21 test
  • MASA syndrome1 test
  • MASS syndrome2 tests
  • Mast syndrome1 test
  • Maturity-onset diabetes of the young type 61 test
  • McCune-Albright syndrome1 test
  • McKusick-Kaufman syndrome1 test
  • Meacham syndrome1 test
  • Meckel syndrome 131 test
  • Meckel syndrome, type 11 test
  • 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 81 test
  • Meckel syndrome, type 91 test
  • MEDNIK syndrome1 test
  • Medulloblastoma4 tests
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 11 test
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 21 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
  • MEGF8-related Carpenter syndrome1 test
  • Meier-Gorlin syndrome 11 test
  • Meier-Gorlin syndrome 21 test
  • Meier-Gorlin syndrome 31 test
  • Meier-Gorlin syndrome 51 test
  • Meier-Gorlin syndrome 61 test
  • Meier-Gorlin syndrome 81 test
  • Melanoma and neural system tumor syndrome1 test
  • Melanoma, cutaneous malignant, susceptibility to, 13 tests
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • Melanoma, cutaneous malignant, susceptibility to, 31 test
  • Melanoma-pancreatic cancer syndrome1 test
  • Melnick-Needles syndrome2 tests
  • Melorheostosis1 test
  • MEND syndrome1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
  • Menstrual cycle-dependent periodic fever1 test
  • Meretoja syndrome1 test
  • Mesothelioma, malignant1 test
  • Metabolic syndrome X1 test
  • Metachondromatosis1 test
  • Metaphyseal anadysplasia 21 test
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Metaphyseal chondrodysplasia, Spahr type1 test
  • Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome1 test
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome1 test
  • Metatropic dysplasia1 test
  • Mevalonic aciduria1 test
  • MGAT2-congenital disorder of glycosylation1 test
  • Microcephalic osteodysplastic primordial dwarfism type II1 test
  • Microcephalic primordial dwarfism due to RTTN deficiency1 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 14, primary, autosomal recessive1 test
  • Microcephaly 15, primary, autosomal recessive1 test
  • Microcephaly 18, primary, autosomal dominant1 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 26, primary, autosomal dominant1 test
  • Microcephaly 27, primary, autosomal dominant1 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 or without chorioretinopathy, lymphedema, or intellectual disability1 test
  • Microcephaly, epilepsy, and diabetes syndrome 11 test
  • Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Microcephaly, seizures, and developmental delay1 test
  • Microcephaly, short stature, and impaired glucose metabolism 11 test
  • Microcephaly, short stature, and impaired glucose metabolism 21 test
  • Microcephaly-capillary malformation syndrome1 test
  • Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1 test
  • Microphthalmia with limb anomalies1 test
  • Microphthalmia, isolated, with coloboma 101 test
  • Microphthalmia, isolated, with coloboma 31 test
  • Microphthalmia, isolated, with coloboma 51 test
  • Microphthalmia, syndromic 11 test
  • Microvascular complications of diabetes, susceptibility to, 41 test
  • Microvascular complications of diabetes, susceptibility to, 51 test
  • Migraine, familial hemiplegic, 11 test
  • Migraine, familial hemiplegic, 21 test
  • Migraine, familial hemiplegic, 31 test
  • Mismatch repair cancer syndrome 12 tests
  • Mismatch repair cancer syndrome 22 tests
  • Mismatch repair cancer syndrome 32 tests
  • Mismatch repair cancer syndrome 42 tests
  • Mitochondrial complex 2 deficiency, nuclear type 31 test
  • Mitochondrial complex 2 deficiency, nuclear type 41 test
  • Mitochondrial complex II deficiency, nuclear type 12 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
  • Mitochondrial DNA deletion syndrome with progressive myopathy1 test
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)2 tests
  • Mitochondrial DNA depletion syndrome 4b1 test
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
  • Miyoshi muscular dystrophy 31 test
  • MORM syndrome1 test
  • Mowat-Wilson syndrome2 tests
  • Moyamoya disease 51 test
  • MPDU1-congenital disorder of glycosylation1 test
  • MPI-congenital disorder of glycosylation1 test
  • Mucopolysaccharidosis type 61 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-B1 test
  • Mucopolysaccharidosis-plus syndrome1 test
  • Muenke syndrome1 test
  • Muir-Torré syndrome4 tests
  • Mulibrey nanism syndrome1 test
  • Mullerian aplasia and hyperandrogenism1 test
  • Multiple benign circumferential skin creases on limbs 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple endocrine neoplasia type 2A2 tests
  • Multiple endocrine neoplasia type 2B2 tests
  • Multiple endocrine neoplasia type 41 test
  • Multiple endocrine neoplasia, type 12 tests
  • 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 sclerosis, susceptibility to, 51 test
  • Multiple self-healing squamous epithelioma1 test
  • Multiple sulfatase deficiency1 test
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Mungan syndrome1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A32 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B32 tests
  • Mutilating keratoderma2 tests
  • Myasthenic syndrome, congenital, 25, presynaptic1 test
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive1 test
  • MYH7-related skeletal myopathy1 test
  • Myhre syndrome2 tests
  • Myoclonic dystonia 112 tests
  • Myoclonic-astatic epilepsy1 test
  • Myoclonus, familial, 21 test
  • Myoclonus, intractable, neonatal1 test
  • Myofibrillar myopathy 111 test
  • Myofibrillar myopathy 41 test
  • Myofibrillar myopathy 61 test
  • Myofibromatosis, infantile, 21 test
  • Myopathy, distal, with rimmed vacuoles1 test
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy1 test
  • Myopathy, myofibrillar, 9, with early respiratory failure1 test
  • Myopathy, myosin storage, autosomal recessive1 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 28, autosomal recessive1 test
  • Myopia 61 test
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosin storage myopathy1 test
  • MYPN-related myopathy1 test
  • Naegeli-Franceschetti-Jadassohn syndrome2 tests
  • Nager syndrome1 test
  • Nail-patella syndrome1 test
  • Nail-patella-like renal disease1 test
  • Nance-Horan syndrome1 test
  • Nanophthalmos 21 test
  • Nasopharyngeal carcinoma2 tests
  • Naxos disease2 tests
  • NDE1-related microhydranencephaly1 test
  • Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
  • Neonatal pseudo-hydrocephalic progeroid syndrome1 test
  • Neoplasm of ovary6 tests
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephronophthisis 11 test
  • Nephronophthisis 111 test
  • Nephronophthisis 121 test
  • Nephronophthisis 131 test
  • Nephronophthisis 141 test
  • Nephronophthisis 161 test
  • Nephronophthisis 31 test
  • Nephronophthisis 41 test
  • Nephrotic syndrome 141 test
  • Nephrotic syndrome 151 test
  • Nephrotic syndrome 161 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 201 test
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 41 test
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 81 test
  • Netherton syndrome1 test
  • Neu-Laxova syndrome 11 test
  • Neu-Laxova syndrome 21 test
  • Neuroblastoma, susceptibility to, 11 test
  • Neurocutaneous melanocytosis1 test
  • Neurodegeneration with ataxia and late-onset optic atrophy2 tests
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
  • Neurodegeneration with brain iron accumulation 2B1 test
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurodevelopmental disorder with epilepsy and hemochromatosis1 test
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1 test
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1 test
  • Neurodevelopmental disorder with visual defects and brain anomalies1 test
  • Neurofibromatosis, familial spinal2 tests
  • Neurofibromatosis, type 12 tests
  • Neurofibromatosis, type 22 tests
  • Neurofibromatosis-Noonan syndrome2 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Neurohypophyseal diabetes insipidus1 test
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 21 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
  • Neuronopathy, distal hereditary motor, autosomal dominant 81 test
  • Neuronopathy, distal hereditary motor, autosomal recessive 81 test
  • Neuronopathy, distal hereditary motor, type 2A1 test
  • Neuronopathy, distal hereditary motor, type 2B1 test
  • Neuronopathy, distal hereditary motor, type 2C1 test
  • Neuronopathy, distal hereditary motor, type 5B1 test
  • Neuropathy, congenital hypomyelinating, 21 test
  • Neuropathy, hereditary motor and sensory, type 6A1 test
  • Neuropathy, hereditary motor and sensory, type 6B1 test
  • Neuropathy, hereditary sensory and autonomic, type 1A1 test
  • Neuropathy, hereditary sensory and autonomic, type 1C1 test
  • Neuropathy, hereditary sensory and autonomic, type 2A1 test
  • Neuropathy, hereditary sensory and autonomic, type 2B1 test
  • Neuropathy, hereditary sensory, type 2C1 test
  • Neutral 1 amino acid transport defect1 test
  • Neutropenia, severe congenital, 1, autosomal dominant1 test
  • Newfoundland cone-rod dystrophy1 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C11 test
  • Niemann-Pick disease, type C21 test
  • Night blindness, congenital stationary, type1i1 test
  • Nijmegen breakage syndrome-like disorder1 test
  • Non-ketotic hyperglycinemia1 test
  • Nonpapillary renal cell carcinoma5 tests
  • Nonsyndromic congenital nail disorder 82 tests
  • Noonan syndrome 11 test
  • Noonan syndrome 101 test
  • Noonan syndrome 111 test
  • Noonan syndrome 121 test
  • Noonan syndrome 131 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 hair 11 test
  • Noonan syndrome-like disorder with loose anagen hair 21 test
  • Norman-Roberts syndrome1 test
  • Norum disease1 test
  • NPHP3-related Meckel-like syndrome1 test
  • Nystagmus 1, congenital, X-linked1 test
  • Obesity, hyperphagia, and developmental delay1 test
  • Occult macular dystrophy1 test
  • Ocular albinism, type II1 test
  • Oculodentodigital dysplasia1 test
  • Oculodentodigital dysplasia, autosomal recessive1 test
  • Oculootoradial syndrome1 test
  • Odonto-onycho-dermal dysplasia1 test
  • Odontochondrodysplasia 11 test
  • Ogden syndrome1 test
  • Oguchi disease-11 test
  • Olmsted syndrome 11 test
  • Olmsted syndrome 21 test
  • Olmsted syndrome, X-linked1 test
  • Opsismodysplasia1 test
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
  • Optic atrophy 111 test
  • Optic atrophy 13 with retinal and foveal abnormalities1 test
  • Optic atrophy 31 test
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2 tests
  • Ornithine aminotransferase deficiency1 test
  • Orofacial cleft 6, susceptibility to1 test
  • Orofacial cleft 81 test
  • Orofacial-digital syndrome IV1 test
  • Orofaciodigital syndrome 161 test
  • Orofaciodigital syndrome 171 test
  • Orofaciodigital syndrome I1 test
  • Orofaciodigital syndrome type 141 test
  • Orofaciodigital syndrome XV1 test
  • Osteoarthritis susceptibility 21 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteofibrous dysplasia1 test
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 141 test
  • Osteogenesis imperfecta type 151 test
  • Osteogenesis imperfecta type 171 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 61 test
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III3 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form3 tests
  • Osteogenesis imperfecta, perinatal lethal3 tests
  • Osteogenesis imperfecta, type 181 test
  • Osteogenesis imperfecta, type 191 test
  • Osteogenesis imperfecta, type 201 test
  • Osteogenesis imperfecta, type 211 test
  • Osteopetrosis, autosomal dominant 31 test
  • Osteoporosis4 tests
  • Osteoporosis with pseudoglioma1 test
  • OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
  • Osteosclerotic metaphyseal dysplasia1 test
  • Otitis media, susceptibility to1 test
  • Oto-palato-digital syndrome, type I2 tests
  • Oto-palato-digital syndrome, type II2 tests
  • Ovarian dysgenesis 61 test
  • Pachyonychia congenita 11 test
  • Pachyonychia congenita 21 test
  • Pachyonychia congenita 31 test
  • Pachyonychia congenita 41 test
  • Paget disease of bone 2, early-onset1 test
  • Paget disease of bone 31 test
  • Palmoplantar keratoderma i, striate, focal, or diffuse1 test
  • Palmoplantar keratoderma, Bothnian type1 test
  • Palmoplantar keratoderma, epidermolytic2 tests
  • Palmoplantar keratoderma, Nagashima type1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
  • Palmoplantar keratoderma, punctate type 1A1 test
  • Palmoplantar keratoderma-deafness syndrome2 tests
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Pancreatic cancer, susceptibility to, 22 tests
  • Pancreatic cancer, susceptibility to, 32 tests
  • Pancreatic cancer, susceptibility to, 42 tests
  • Papillary renal cell carcinoma type 11 test
  • Papillon-Lefèvre syndrome1 test
  • Paragangliomas 11 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paragangliomas 52 tests
  • Paramyotonia congenita of Von Eulenburg1 test
  • Parastremmatic dwarfism1 test
  • Parietal foramina 11 test
  • Parietal foramina 21 test
  • Parietal foramina with cleidocranial dysplasia1 test
  • Parkinson disease 11, autosomal dominant, susceptibility to1 test
  • Parkinson disease 13, autosomal dominant, susceptibility to1 test
  • Parkinson disease 171 test
  • Parkinson disease 24, autosomal dominant, susceptibility to1 test
  • Parkinson disease 5, autosomal dominant, susceptibility to2 tests
  • Parkinson disease, late-onset1 test
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Paroxysmal nonkinesigenic dyskinesia 11 test
  • Partington syndrome1 test
  • Patent ductus arteriosus 31 test
  • Patterned macular dystrophy 12 tests
  • Patterned macular dystrophy 21 test
  • PCWH syndrome1 test
  • Peeling skin syndrome 11 test
  • Peeling skin syndrome 41 test
  • Peeling skin syndrome 51 test
  • Peeling skin syndrome type A1 test
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome1 test
  • PEHO syndrome1 test
  • Pelger-Huët anomaly1 test
  • Pelizaeus-Merzbacher disease1 test
  • Pelviscapular dysplasia1 test
  • PERCHING syndrome1 test
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • Periodontitis, aggressive 11 test
  • Periventricular heterotopia with microcephaly, autosomal recessive1 test
  • Periventricular nodular heterotopia 71 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 9B1 test
  • Peroxisome biogenesis disorder type 3B1 test
  • Perrault syndrome 11 test
  • Peutz-Jeghers syndrome2 tests
  • Pfeiffer syndrome1 test
  • PGM1-congenital disorder of glycosylation1 test
  • PHARC syndrome1 test
  • Phelan-McDermid syndrome1 test
  • Pheochromocytoma10 tests
  • PHGDH deficiency1 test
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Phytanic acid storage disease1 test
  • Pick disease3 tests
  • Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
  • Pierpont syndrome1 test
  • Pierson syndrome1 test
  • Pigmentary pallidal degeneration1 test
  • Pigmentary retinal dystrophy6 tests
  • Pigmented nodular adrenocortical disease, primary, 12 tests
  • Pigmented paravenous retinochoroidal atrophy1 test
  • Pilomatrixoma1 test
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 21 test
  • Pituitary adenoma 3, multiple types1 test
  • Pituitary adenoma 5, multiple types1 test
  • Pituitary hormone deficiency, combined, 61 test
  • Pityriasis rubra pilaris1 test
  • Plasma triglyceride level quantitative trait locus1 test
  • Pleomorphic adenoma of salivary gland1 test
  • Pleuropulmonary blastoma1 test
  • PMM2-congenital disorder of glycosylation1 test
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease 41 test
  • Polycystic kidney disease, adult type1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
  • Polycystic liver disease 3 with or without kidney cysts1 test
  • Polycystic liver disease 4 with or without kidney cysts1 test
  • Polydactyly of a triphalangeal thumb1 test
  • Polydactyly, postaxial, type a101 test
  • Polydactyly, postaxial, type a71 test
  • Polyglucosan body myopathy type 11 test
  • Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome2 tests
  • Polyposis syndrome, hereditary mixed, 22 tests
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 1B1 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 41 test
  • Pontocerebellar hypoplasia type 51 test
  • Pontocerebellar hypoplasia type 61 test
  • Pontocerebellar hypoplasia type 71 test
  • Pontocerebellar hypoplasia type 81 test
  • Pontocerebellar hypoplasia, type 111 test
  • Pontocerebellar hypoplasia, type 131 test
  • Pontocerebellar hypoplasia, type 1E1 test
  • Pontocerebellar hypoplasia, type 2F1 test
  • Porokeratosis 1, Mibelli type1 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Porokeratosis 7, multiple types1 test
  • Porokeratosis 9, multiple types1 test
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 21 test
  • Posterior polymorphous corneal dystrophy 31 test
  • Potassium-aggravated myotonia1 test
  • Prader-Willi syndrome1 test
  • Premature ovarian failure 171 test
  • Premature ovarian failure 71 test
  • Preterm premature rupture of membranes1 test
  • Pretibial dystrophic epidermolysis bullosa2 tests
  • Primary coenzyme Q10 deficiency 81 test
  • Primary erythromelalgia1 test
  • Primary failure of tooth eruption1 test
  • Primary open angle glaucoma1 test
  • Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
  • Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
  • Progressive familial heart block, type 1A2 tests
  • Progressive myoclonic epilepsy type 31 test
  • Progressive myoclonic epilepsy type 61 test
  • Progressive myoclonic epilepsy type 71 test
  • Progressive myoclonic epilepsy type 91 test
  • Progressive osseous heteroplasia1 test
  • Progressive retinal dystrophy due to retinol transport defect1 test
  • Progressive sclerosing poliodystrophy1 test
  • Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1 test
  • Progressive supranuclear palsy-parkinsonism syndrome1 test
  • Prostate cancer, hereditary, 91 test
  • Proteasome-associated autoinflammatory syndrome 11 test
  • Proteasome-associated autoinflammatory syndrome 21 test
  • Proteasome-associated autoinflammatory syndrome 32 tests
  • Proteus syndrome1 test
  • Proximal symphalangism 1A1 test
  • PSAT deficiency1 test
  • Pseudo-TORCH syndrome 21 test
  • Pseudohyperaldosteronism type 21 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudohypoparathyroidism type I A1 test
  • Pseudopseudohypoparathyroidism1 test
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis 21 test
  • Pulmonary hypertension, primary, 11 test
  • Pulmonary venoocclusive disease 11 test
  • PYCR1-related de Barsy syndrome1 test
  • Pyle metaphyseal dysplasia1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • RAB23-related Carpenter syndrome1 test
  • Radial aplasia-thrombocytopenia syndrome1 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 21 test
  • Radioulnar synostosis, nonsyndromic, susceptibility to1 test
  • Rapadilino syndrome1 test
  • RAPH BLOOD GROUP SYSTEM1 test
  • Rapp-Hodgkin ectodermal dysplasia syndrome1 test
  • RCBTB1-related retinopathy1 test
  • Recessive dystrophic epidermolysis bullosa2 tests
  • Regressive spondylometaphyseal dysplasia1 test
  • Reis-Bucklers' corneal dystrophy1 test
  • Renal carnitine transport defect1 test
  • Renal coloboma syndrome1 test
  • Renal cysts and diabetes syndrome1 test
  • Renal hypodysplasia/aplasia 11 test
  • Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
  • Renal tubular dysgenesis of genetic origin1 test
  • Renal-hepatic-pancreatic dysplasia 11 test
  • Renpenning syndrome1 test
  • Respiratory papillomatosis, juvenile recurrent, congenital1 test
  • Restrictive dermopathy 21 test
  • Retinal cone dystrophy 3A1 test
  • Retinal dystrophy and obesity1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
  • Retinal macular dystrophy type 21 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Retinitis pigmentosa 12 tests
  • Retinitis pigmentosa 102 tests
  • Retinitis pigmentosa 112 tests
  • Retinitis pigmentosa 121 test
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 141 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 192 tests
  • Retinitis pigmentosa 22 tests
  • Retinitis pigmentosa 202 tests
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 261 test
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 32 tests
  • 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 392 tests
  • Retinitis pigmentosa 42 tests
  • 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 502 tests
  • 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 661 test
  • Retinitis pigmentosa 671 test
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 73 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 762 tests
  • 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 861 test
  • Retinitis pigmentosa 87 with choroidal involvement2 tests
  • Retinitis pigmentosa 881 test
  • Retinitis pigmentosa 891 test
  • Retinitis pigmentosa 91 test
  • Retinitis pigmentosa 901 test
  • Retinitis pigmentosa and erythrocytic microcytosis1 test
  • Retinitis pigmentosa with or without situs inversus1 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness2 tests
  • Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
  • Retinoblastoma1 test
  • Rett syndrome1 test
  • Rett syndrome, congenital variant2 tests
  • Reynolds syndrome1 test
  • Rhabdoid tumor predisposition syndrome 11 test
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhabdomyosarcoma, embryonal, 21 test
  • Rheumatoid arthritis1 test
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 51 test
  • RHYNS syndrome1 test
  • Rienhoff syndrome2 tests
  • Rippling muscle disease 21 test
  • Ritscher-Schinzel syndrome 11 test
  • Robinow-Sorauf syndrome1 test
  • Roifman syndrome1 test
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1 test
  • Rothmund-Thomson syndrome type 21 test
  • Roussy-Lévy syndrome3 tests
  • Saethre-Chotzen syndrome2 tests
  • Saldino-Mainzer syndrome1 test
  • Salla disease1 test
  • Sarcotubular myopathy1 test
  • Scapuloperoneal spinal muscular atrophy1 test
  • Schaaf-Yang syndrome1 test
  • SchC6pf-Schulz-Passarge syndrome1 test
  • Schimke immuno-osseous dysplasia1 test
  • Schinzel phocomelia syndrome1 test
  • Schizencephaly2 tests
  • Schizophrenia 151 test
  • Schizophrenia 181 test
  • Schneckenbecken dysplasia1 test
  • Schnyder crystalline corneal dystrophy1 test
  • Schwannomatosis 13 tests
  • Schwannomatosis 21 test
  • Schwartz-Jampel syndrome type 11 test
  • Sclerosteosis 11 test
  • Sclerosteosis 21 test
  • Sea-blue histiocyte syndrome1 test
  • Seborrheic keratosis1 test
  • Seckel syndrome 101 test
  • Seckel syndrome 21 test
  • Seckel syndrome 41 test
  • Seckel syndrome 51 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, 11 test
  • Seizures, benign familial neonatal, 21 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
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • SERKAL syndrome1 test
  • Sessile serrated polyposis cancer syndrome1 test
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome1 test
  • Severe early-childhood-onset retinal dystrophy2 tests
  • Severe intellectual disability-progressive spastic diplegia syndrome1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • Short QT syndrome type 12 tests
  • Short QT syndrome type 22 tests
  • Short QT syndrome type 32 tests
  • Short stature due to primary acid-labile subunit deficiency1 test
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis1 test
  • Short stature, Dauber-Argente type1 test
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11 test
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 21 test
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature, oligodontia, dysmorphic facies, and motor delay1 test
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1 test
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
  • Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1 test
  • SHORT syndrome1 test
  • Short-rib thoracic dysplasia 10 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 14 with polydactyly1 test
  • Short-rib thoracic dysplasia 16 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 21 without polydactyly1 test
  • Short-rib thoracic dysplasia 6 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly1 test
  • SHOX-related short stature2 tests
  • Shprintzen-Goldberg syndrome1 test
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis type 21 test
  • Sick sinus syndrome 12 tests
  • Sick sinus syndrome 3, susceptibility to1 test
  • Silver-Russell syndrome 31 test
  • Silver-russell syndrome 41 test
  • Simpson-Golabi-Behmel syndrome type 21 test
  • Singleton-Merten syndrome 11 test
  • Singleton-Merten syndrome 21 test
  • Sitosterolemia 11 test
  • Sitosterolemia 21 test
  • Sjögren-Larsson syndrome1 test
  • SLC35A2-congenital disorder of glycosylation1 test
  • Small cell lung carcinoma1 test
  • Smith-McCort dysplasia 21 test
  • Sneddon syndrome1 test
  • Snowflake vitreoretinal degeneration1 test
  • Sodium serum level quantitative trait locus 11 test
  • Solitary median maxillary central incisor syndrome1 test
  • Sorsby fundus dystrophy1 test
  • Southeast Asian ovalocytosis1 test
  • Spastic ataxia 11 test
  • Spastic ataxia 21 test
  • Spastic ataxia 31 test
  • Spastic ataxia 41 test
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
  • Spastic paraplegia 80, autosomal dominant1 test
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
  • Spastic tetraplegia and axial hypotonia, progressive1 test
  • Spermatogenic failure 581 test
  • Spermatogenic failure 81 test
  • Spermatogenic failures 501 test
  • Sphingolipid activator protein 1 deficiency1 test
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1 test
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia 441 test
  • Spinocerebellar ataxia 471 test
  • Spinocerebellar ataxia 481 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar ataxia type 141 test
  • Spinocerebellar ataxia type 15/161 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 341 test
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 421 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive 271 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • Split hand-foot malformation 41 test
  • Split hand-foot malformation 61 test
  • Sponastrime dysplasia1 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylocostal dysostosis 2, autosomal recessive1 test
  • Spondylocostal dysostosis 3, autosomal recessive1 test
  • Spondylocostal dysostosis 4, autosomal recessive1 test
  • Spondylocostal dysostosis 51 test
  • Spondyloenchondrodysplasia with immune dysregulation1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
  • Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
  • Spondyloepimetaphyseal dysplasia, Genevieve type1 test
  • Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type1 test
  • Spondyloepiphyseal dysplasia tarda, X-linked1 test
  • Spondyloepiphyseal dysplasia, kondo-fu type1 test
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis1 test
  • Spondylometaphyseal dysplasia - Sutcliffe type1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome1 test
  • Spongiform encephalopathy with neuropsychiatric features1 test
  • SRD5A3-congenital disorder of glycosylation1 test
  • Stapes ankylosis with broad thumbs and toes1 test
  • Stargardt disease 31 test
  • Stargardt disease 41 test
  • Steatocystoma multiplex1 test
  • Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
  • Sterol carrier protein 2 deficiency1 test
  • Stiff skin syndrome2 tests
  • STING-associated vasculopathy with onset in infancy1 test
  • Striatonigral degeneration, childhood-onset1 test
  • Structural brain anomalies with impaired intellectual development and craniosynostosis1 test
  • Sturge-Weber syndrome1 test
  • Stuttering, familial persistent, 11 test
  • Stüve-Wiedemann syndrome 11 test
  • SUDDEN INFANT DEATH SYNDROME2 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
  • Supranuclear palsy, progressive, 11 test
  • Supravalvar aortic stenosis1 test
  • Susceptibility to HIV infection1 test
  • Susceptibility to mononeuropathy of the median nerve, mild1 test
  • Sweeney-Cox syndrome1 test
  • Symmetrical dyschromatosis of extremities1 test
  • Symphalangism-brachydactyly syndrome1 test
  • Syndactyly type 31 test
  • Syndactyly type 41 test
  • Syndactyly type 51 test
  • Syndromic microphthalmia type 51 test
  • Syndromic X-linked intellectual disability 141 test
  • Syndromic X-linked intellectual disability Lubs type1 test
  • Syndromic X-linked intellectual disability Nascimento type1 test
  • Synpolydactyly type 11 test
  • Systemic lupus erythematosus1 test
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome1 test
  • Tangier disease1 test
  • Tarsal-carpal coalition syndrome1 test
  • TCF12-related craniosynostosis1 test
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Temtamy preaxial brachydactyly syndrome1 test
  • Terminal osseous dysplasia-pigmentary defects syndrome2 tests
  • Tetraamelia syndrome 11 test
  • Tetralogy of Fallot4 tests
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test
  • Thiel-Behnke corneal dystrophy1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thyroid cancer, nonmedullary, 23 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Tibia, hypoplasia or aplasia of, with polydactyly1 test
  • Tibial muscular dystrophy1 test
  • Timothy syndrome1 test
  • TMEM165-congenital disorder of glycosylation1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Tobacco addiction, susceptibility to1 test
  • Tooth agenesis, selective, 41 test
  • Tooth agenesis, selective, 81 test
  • Tooth agenesis, selective, X-linked, 11 test
  • Toriello-Lacassie-Droste syndrome1 test
  • Torsion dystonia 21 test
  • Torsion dystonia 41 test
  • Torsion dystonia 62 tests
  • Townes-Brocks syndrome 11 test
  • Transient bullous dermolysis of the newborn2 tests
  • Transient infantile hypertriglyceridemia and hepatosteatosis1 test
  • Transketolase deficiency1 test
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Treacher Collins syndrome 31 test
  • Tricho-dento-osseous syndrome1 test
  • Trichoepithelioma, multiple familial, 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichorhinophalangeal syndrome, type III1 test
  • Trichothiodystrophy 1, photosensitive1 test
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy 4, nonphotosensitive1 test
  • Triglyceride storage disease with ichthyosis1 test
  • Tropical pancreatitis1 test
  • Troyer syndrome1 test
  • Tuberous sclerosis 12 tests
  • Tuberous sclerosis 22 tests
  • Tumor predisposition syndrome 31 test
  • TWIST1-related craniosynostosis1 test
  • Type 2 diabetes mellitus7 tests
  • Type A2 brachydactyly2 tests
  • Tyrosinemia type II1 test
  • Ullrich congenital muscular dystrophy 1A1 test
  • Ulnar-mammary syndrome1 test
  • Usher syndrome type 11 test
  • Usher syndrome type 1C1 test
  • Usher syndrome type 1D2 tests
  • Usher syndrome type 1F1 test
  • Usher syndrome type 1G1 test
  • Usher syndrome type 1J1 test
  • Usher syndrome type 2A3 tests
  • Usher syndrome type 2C2 tests
  • Usher syndrome type 2D1 test
  • Usher syndrome type 3A1 test
  • VACTERL association, X-linked, with or without hydrocephalus1 test
  • Van den Ende-Gupta syndrome1 test
  • Van der Woude syndrome 11 test
  • Vasculitis due to ADA2 deficiency1 test
  • Velocardiofacial syndrome1 test
  • Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome2 tests
  • Ventricular fibrillation, paroxysmal familial, type 12 tests
  • Ventricular septal defect 21 test
  • Ventricular septal defect 31 test
  • Ventriculomegaly and arthrogryposis1 test
  • Vesicoureteral reflux 82 tests
  • Visceral myopathy 21 test
  • Vitamin D hydroxylation-deficient rickets, type 1B1 test
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitelliform macular dystrophy 22 tests
  • Vitelliform macular dystrophy 32 tests
  • Vitelliform macular dystrophy 41 test
  • Vitelliform macular dystrophy 51 test
  • Vitiligo-associated multiple autoimmune disease susceptibility 11 test
  • Von Hippel-Lindau syndrome2 tests
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C1 test
  • Warburg micro syndrome 11 test
  • Warburg micro syndrome 21 test
  • Warburg micro syndrome 31 test
  • Weill-Marchesani syndrome 2, dominant2 tests
  • Werner syndrome1 test
  • White sponge nevus 11 test
  • White sponge nevus 21 test
  • Wiedemann-Steiner syndrome1 test
  • Wilms tumor 13 tests
  • Wolff-Parkinson-White pattern1 test
  • Wolfram syndrome 12 tests
  • Wolfram syndrome 21 test
  • Wolfram-like syndrome2 tests
  • Wooly hair-palmoplantar keratoderma syndrome1 test
  • Worth disease1 test
  • X-linked Alport syndrome2 tests
  • X-linked chondrodysplasia punctata 11 test
  • X-linked complicated corpus callosum dysgenesis1 test
  • X-linked cone-rod dystrophy 12 tests
  • X-linked cone-rod dystrophy 31 test
  • X-linked hydrocephalus syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency2 tests
  • X-linked intellectual disability with marfanoid habitus1 test
  • X-linked intellectual disability, van Esch type1 test
  • X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
  • X-linked lissencephaly with abnormal genitalia1 test
  • X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
  • X-linked lymphoproliferative disease due to XIAP deficiency1 test
  • X-linked reticulate pigmentary disorder1 test
  • Xeroderma pigmentosum group B1 test
  • Xeroderma pigmentosum, group D1 test
  • Yao syndrome1 test

List of services

  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling

List of certifications/licenses

Certifications

  • KTQ certificate, Number: 2014-0022 KH, Expiration date: 2017-04-25

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.