CNH Molecular Diagnostics Laboratory

Personnel

Director: Jessica Albert, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, CLIA License Holder
Email: jsalbert@childrensnational.org
Director: Meghan Delaney, DO, MPH, ABPath, CLIA License Holder
Phone: 202-476-5355
Director: Irena Manukyan, MD, ABPath, FCAP, Lab Director
Email: imanukyan@childrensnational.org
Director: Srirangan Sampath, PhD, FACMG, Lab Director
Email: ssampath@childrensnational.org

Conditions and tests

1424 conditions/phenotypes with 57 tests
Enter text to narrow down the list

3-Methylglutaconic aciduria type 26 tests
3-Methylglutaconic aciduria type 31 test
Aarskog syndrome6 tests
Abortive cerebellar ataxia1 test
Absence seizure1 test
Acetyl-CoA: carboxylase deficiency1 test
Achondrogenesis type II2 tests
Acne inversa, familial, 33 tests
Acquired hemoglobin H disease4 tests
Acrocallosal syndrome1 test
Acromicric dysplasia3 tests
Actin accumulation myopathy2 tests
Action myoclonus-renal failure syndrome1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute lymphoid leukemia2 tests
Acute myeloid leukemia10 tests
Acyl-CoA dehydrogenase 9 deficiency1 test
Adams-Oliver syndrome 51 test
Adenylosuccinate lyase deficiency1 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
Adrenoleukodystrophy2 tests
Adult hypophosphatasia2 tests
Adult neuronal ceroid lipofuscinosis1 test
Agammaglobulinemia 7, autosomal recessive1 test
ALDH18A1-related de Barsy syndrome2 tests
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
ALG1-congenital disorder of glycosylation1 test
ALG11-congenital disorder of glycosylation1 test
ALG12-congenital disorder of glycosylation1 test
ALG2-congenital disorder of glycosylation2 tests
ALG3-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C1 test
ALG8 congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation1 test
Allan-Herndon-Dudley syndrome2 tests
Alpha thalassemia-X-linked intellectual disability syndrome4 tests
Alternating hemiplegia of childhood 11 test
Alzheimer disease 33 tests
Alzheimer disease 43 tests
Aminoglycoside-induced deafness1 test
Amish lethal microcephaly2 tests
Amyloidosis, hereditary systemic 14 tests
Amyotrophic lateral sclerosis type 111 test
Anauxetic dysplasia 12 tests
Andersen Tawil syndrome4 tests
Aneurysm-osteoarthritis syndrome3 tests
Angelman syndrome4 tests
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 62 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic valve disease 11 test
Aplastic anemia6 tests
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma4 tests
Arrhythmogenic right ventricular dysplasia 13 tests
Arrhythmogenic right ventricular dysplasia 105 tests
Arrhythmogenic right ventricular dysplasia 114 tests
Arrhythmogenic right ventricular dysplasia 124 tests
Arrhythmogenic right ventricular dysplasia 25 tests
Arrhythmogenic right ventricular dysplasia 54 tests
Arrhythmogenic right ventricular dysplasia 84 tests
Arrhythmogenic right ventricular dysplasia 94 tests
Arterial tortuosity syndrome1 test
Arthrogryposis, distal, type 1A2 tests
Arts syndrome4 tests
Asperger syndrome, X-linked, susceptibility to, 12 tests
Ataxia - oculomotor apraxia type 44 tests
Atrial fibrillation, familial, 106 tests
Atrial fibrillation, familial, 123 tests
Atrial fibrillation, familial, 136 tests
Atrial fibrillation, familial, 143 tests
Atrial fibrillation, familial, 34 tests
Atrial fibrillation, familial, 43 tests
Atrial fibrillation, familial, 94 tests
Atrial septal defect 34 tests
Atrial septal defect 55 tests
Atrial septal defect 72 tests
Atrophia bulborum hereditaria2 tests
Autism, susceptibility to, 153 tests
Autism, susceptibility to, 171 test
Autism, susceptibility to, X-linked 12 tests
Autism, susceptibility to, X-linked 21 test
Autism, susceptibility to, X-linked 36 tests
Autism, susceptibility to, X-linked 42 tests
Autism, susceptibility to, X-linked 52 tests
Autoimmune disease, multisystem, infantile-onset, 21 test
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1 test
Autoimmune lymphoproliferative syndrome type 11 test
Autoimmune lymphoproliferative syndrome type 2A1 test
Autoimmune lymphoproliferative syndrome type 2B1 test
Autoimmune lymphoproliferative syndrome type 45 tests
Autoinflammation with arthritis and dyskeratosis1 test
Autoinflammatory syndrome, familial, Behcet-like1 test
Autosomal dominant aplasia and myelodysplasia2 tests
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant centronuclear myopathy3 tests
Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2 tests
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome2 tests
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 104 tests
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 133 tests
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 202 tests
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A2 tests
Autosomal dominant nonsyndromic hearing loss 3B2 tests
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 481 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 62 tests
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 652 tests
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant optic atrophy classic form1 test
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive complex spastic paraplegia type 9B2 tests
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive distal spinal muscular atrophy 12 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive limb-girdle muscular dystrophy type 2U3 tests
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 1B2 tests
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 43 tests
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 533 tests
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 862 tests
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity1 test
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2 tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2 tests
Autosomal recessive spinocerebellar ataxia 71 test
Avascular necrosis of femoral head, primary, 12 tests
Avascular necrosis of femoral head, primary, 21 test
B4GALT1-congenital disorder of glycosylation1 test
Baraitser-Winter syndrome 11 test
Baraitser-winter syndrome 22 tests
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 141 test
Becker muscular dystrophy4 tests
Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
Bethlem myopathy 1A2 tests
Bethlem myopathy 22 tests
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral frontoparietal polymicrogyria1 test
Bilateral parasagittal parieto-occipital polymicrogyria1 test
Birt-Hogg-Dube syndrome1 test
Blepharophimosis - intellectual disability syndrome, MKB type3 tests
BLOOD GROUP--DIEGO SYSTEM1 test
BLOOD GROUP--FROESE1 test
BLOOD GROUP--SWANN SYSTEM1 test
BLOOD GROUP--WALDNER TYPE1 test
BLOOD GROUP--WRIGHT ANTIGEN1 test
Borjeson-Forssman-Lehmann syndrome2 tests
Brachyrachia (short spine dysplasia)1 test
Branchiootic syndrome 11 test
Branchiootic syndrome 31 test
Branchiootorenal syndrome 11 test
Breast-ovarian cancer, familial, susceptibility to, 22 tests
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Bronchiectasis with or without elevated sweat chloride 13 tests
Bruck syndrome 12 tests
Bruck syndrome 22 tests
Brugada syndrome 16 tests
Brugada syndrome 23 tests
Brugada syndrome 34 tests
Brugada syndrome 43 tests
Brugada syndrome 56 tests
Brugada syndrome 63 tests
Brugada syndrome 73 tests
Brugada syndrome 83 tests
Brugada syndrome 93 tests
Brunner syndrome2 tests
Carcinoid tumor of intestine1 test
Carcinoma of colon6 tests
Carcinoma of pancreas6 tests
Cardiac arrhythmia, ankyrin-B-related4 tests
Cardiac valvular dysplasia, X-linked5 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 31 test
Cardiofaciocutaneous syndrome 15 tests
Cardiofaciocutaneous syndrome 25 tests
Cardiofaciocutaneous syndrome 35 tests
Cardiofaciocutaneous syndrome 45 tests
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis4 tests
Cardiomyopathy, familial restrictive, 15 tests
Cardiomyopathy, familial restrictive, 35 tests
Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
Carney-Stratakis syndrome1 test
Carnitine acylcarnitine translocase deficiency1 test
Carpal tunnel syndrome4 tests
Cataract 16 multiple types2 tests
Cataract 381 test
Cataract 402 tests
Cataract 412 tests
Catecholaminergic polymorphic ventricular tachycardia 15 tests
Catecholaminergic polymorphic ventricular tachycardia 25 tests
Catecholaminergic polymorphic ventricular tachycardia 43 tests
Catecholaminergic polymorphic ventricular tachycardia 53 tests
CBL-related disorder4 tests
Celiac disease, susceptibility to, 31 test
Cellular mosaicism2 tests
Central core myopathy2 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
Cerebral arteriovenous malformation5 tests
Cerebral folate transport deficiency4 tests
Cerebroretinal microangiopathy with calcifications and cysts 12 tests
Cernunnos-XLF deficiency3 tests
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive2 tests
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O2 tests
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease axonal type 2S2 tests
Charcot-Marie-Tooth disease dominant intermediate B3 tests
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease recessive intermediate A1 test
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 2A22 tests
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B17 tests
Charcot-Marie-Tooth disease type 2D1 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4B22 tests
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4E1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease X-linked recessive 41 test
Charcot-Marie-Tooth disease X-linked recessive 54 tests
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Charcot-Marie-Tooth disease, dominant intermediate G1 test
Charcot-Marie-Tooth disease, type IA1 test
Child syndrome1 test
Childhood apraxia of speech1 test
Childhood hypophosphatasia2 tests
Childhood onset GLUT1 deficiency syndrome 23 tests
CHIME syndrome1 test
Cholestasis, progressive familial intrahepatic, 41 test
Christianson syndrome5 tests
Chromosome 2p16.3 deletion syndrome3 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chudley-McCullough syndrome2 tests
Chédiak-Higashi syndrome4 tests
Citrullinemia type II1 test
CK syndrome1 test
Classic homocystinuria1 test
COACH syndrome 11 test
Coenzyme Q10 deficiency, primary, 11 test
Coenzyme Q10 deficiency, primary, 31 test
Coffin-Lowry syndrome2 tests
Coffin-Siris syndrome 11 test
COG1 congenital disorder of glycosylation1 test
COG4-congenital disorder of glycosylation1 test
COG5-congenital disorder of glycosylation1 test
COG6-congenital disorder of glycosylation1 test
COG7 congenital disorder of glycosylation1 test
COG8-congenital disorder of glycosylation1 test
Cognitive impairment with or without cerebellar ataxia2 tests
Cohen syndrome2 tests
Colorectal cancer, hereditary nonpolyposis, type 63 tests
Combined immunodeficiency due to CD3gamma deficiency1 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to partial RAG1 deficiency2 tests
Combined immunodeficiency due to STIM1 deficiency1 test
Combined immunodeficiency due to ZAP70 deficiency1 test
Combined immunodeficiency with skin granulomas2 tests
Combined immunodeficiency, X-linked2 tests
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation defect type 151 test
Combined oxidative phosphorylation defect type 21 test
Combined oxidative phosphorylation defect type 241 test
Combined oxidative phosphorylation defect type 251 test
Combined oxidative phosphorylation defect type 41 test
Combined oxidative phosphorylation defect type 71 test
Combined oxidative phosphorylation defect type 81 test
Complex cortical dysplasia with other brain malformations 11 test
Complex cortical dysplasia with other brain malformations 71 test
Compton-North congenital myopathy1 test
Congenital amegakaryocytic thrombocytopenia2 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation3 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital contractural arachnodactyly1 test
Congenital disorder of glycosylation type 1E3 tests
Congenital disorder of glycosylation type Ir1 test
Congenital disorder of glycosylation, type ICC1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital generalized lipodystrophy type 21 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
Congenital multicore myopathy with external ophthalmoplegia2 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency2 tests
Congenital muscular dystrophy due to LMNA mutation7 tests
Congenital muscular hypertrophy-cerebral syndrome2 tests
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 132 tests
Congenital myasthenic syndrome 142 tests
Congenital myasthenic syndrome 162 tests
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C1 test
Congenital myasthenic syndrome 3A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 71 test
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 91 test
Congenital myopathy 232 tests
Congenital myopathy 4B, autosomal recessive2 tests
Congenital myopathy with fiber type disproportion2 tests
Conotruncal heart malformations1 test
Corneal dystrophy, Fuchs endothelial, 32 tests
Corneal dystrophy, posterior polymorphous, 41 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
Cornelia de Lange syndrome 52 tests
Corpus callosum agenesis-abnormal genitalia syndrome6 tests
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome2 tests
Cortical dysplasia-focal epilepsy syndrome3 tests
Costello syndrome5 tests
Cowden syndrome 13 tests
Cowden syndrome 71 test
Creatine transporter deficiency1 test
Cryohydrocytosis1 test
Cutis laxa with osteodystrophy3 tests
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
Cutis laxa, autosomal dominant 12 tests
Cutis laxa, autosomal dominant 22 tests
Cutis laxa, autosomal dominant 32 tests
Cutis laxa, autosomal recessive, type 1A2 tests
Cutis laxa, autosomal recessive, type 1B2 tests
Cutis laxa, X-linked4 tests
Cyclical neutropenia3 tests
Cystic fibrosis3 tests
Danon disease6 tests
Deafness dystonia syndrome4 tests
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, X-linked 51 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
Deafness-infertility syndrome1 test
Deafness-lymphedema-leukemia syndrome4 tests
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Dejerine-Sottas disease1 test
Dent disease type 22 tests
Dentinogenesis imperfecta type 21 test
Dentinogenesis imperfecta type 31 test
Desmin-related myofibrillar myopathy4 tests
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy, 16 tests
Developmental and epileptic encephalopathy, 114 tests
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 162 tests
Developmental and epileptic encephalopathy, 192 tests
Developmental and epileptic encephalopathy, 26 tests
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 272 tests
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 42 tests
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 52 tests
Developmental and epileptic encephalopathy, 526 tests
Developmental and epileptic encephalopathy, 73 tests
Developmental and epileptic encephalopathy, 83 tests
Developmental and epileptic encephalopathy, 96 tests
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing1 test
Developmental malformations-deafness-dystonia syndrome1 test
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 81 test
Diamond-Blackfan anemia 91 test
Dilated cardiomyopathy 1A7 tests
Dilated cardiomyopathy 1AA4 tests
Dilated cardiomyopathy 1BB5 tests
Dilated cardiomyopathy 1C5 tests
Dilated cardiomyopathy 1CC4 tests
Dilated cardiomyopathy 1D5 tests
Dilated cardiomyopathy 1DD3 tests
Dilated cardiomyopathy 1E6 tests
Dilated cardiomyopathy 1EE4 tests
Dilated cardiomyopathy 1FF5 tests
Dilated cardiomyopathy 1G5 tests
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1HH4 tests
Dilated cardiomyopathy 1I4 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1J4 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK2 tests
Dilated cardiomyopathy 1L4 tests
Dilated cardiomyopathy 1M4 tests
Dilated cardiomyopathy 1NN5 tests
Dilated cardiomyopathy 1O3 tests
Dilated cardiomyopathy 1P4 tests
Dilated cardiomyopathy 1R5 tests
Dilated cardiomyopathy 1S7 tests
Dilated cardiomyopathy 1U3 tests
Dilated cardiomyopathy 1V3 tests
Dilated cardiomyopathy 1W4 tests
Dilated cardiomyopathy 1X6 tests
Dilated cardiomyopathy 1Y5 tests
Dilated cardiomyopathy 1Z4 tests
Dilated cardiomyopathy 2A5 tests
Dilated cardiomyopathy 2B2 tests
Dilated cardiomyopathy 3B4 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome7 tests
Distal arthrogryposis type 2B12 tests
Distal myopathy with anterior tibial onset1 test
Distal myopathy, Tateyama type6 tests
DK1-congenital disorder of glycosylation1 test
DNA ligase IV deficiency4 tests
DOORS syndrome2 tests
Down syndrome1 test
DPAGT1-congenital disorder of glycosylation2 tests
DPM3-congenital disorder of glycosylation2 tests
Duchenne muscular dystrophy4 tests
DYRK1A-related intellectual disability syndrome4 tests
Dyskeratosis congenita, autosomal dominant 12 tests
Dyskeratosis congenita, autosomal dominant 22 tests
Dyskeratosis congenita, autosomal dominant 32 tests
Dyskeratosis congenita, autosomal recessive 12 tests
Dyskeratosis congenita, autosomal recessive 22 tests
Dyskeratosis congenita, autosomal recessive 32 tests
Dyskeratosis congenita, X-linked4 tests
Dyslexia, susceptibility to, 11 test
Dystonia 272 tests
Dystonia 93 tests
Early myoclonic encephalopathy1 test
Early-onset myopathy with fatal cardiomyopathy5 tests
Early-onset parkinsonism-intellectual disability syndrome2 tests
EAST syndrome3 tests
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis 1, isolated, autosomal dominant3 tests
Ectopia lentis 2, isolated, autosomal recessive2 tests
Ectopia lentis et pupillae2 tests
Ehlers-Danlos syndrome progeroid type2 tests
Ehlers-Danlos syndrome, arthrochalasia type4 tests
Ehlers-Danlos syndrome, arthrochalasia type, 24 tests
Ehlers-Danlos syndrome, cardiac valvular type4 tests
Ehlers-Danlos syndrome, classic type2 tests
Ehlers-Danlos syndrome, classic type, 22 tests
Ehlers-Danlos syndrome, dermatosparaxis type2 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
Ehlers-Danlos syndrome, kyphoscoliotic type, 22 tests
Ehlers-Danlos syndrome, musculocontractural type2 tests
Ehlers-Danlos syndrome, spondylocheirodysplastic type2 tests
Ehlers-Danlos syndrome, type 42 tests
Eichsfeld type congenital muscular dystrophy2 tests
Elevated circulating creatine kinase concentration6 tests
Elliptocytosis 11 test
Elliptocytosis 21 test
Elliptocytosis 31 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant7 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive7 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant4 tests
Encephalopathy due to GLUT1 deficiency3 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
Endometrial carcinoma1 test
Epidermal nevus5 tests
Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex, Ogna type1 test
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 22 tests
Epilepsy, childhood absence, susceptibility to, 51 test
Epilepsy, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 101 test
Epilepsy, idiopathic generalized, susceptibility to, 123 tests
Epilepsy, idiopathic generalized, susceptibility to, 132 tests
Epilepsy, idiopathic generalized, susceptibility to, 71 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, idiopathic generalized, susceptibility to, 91 test
Epilepsy, progressive myoclonic, 1B1 test
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders3 tests
Epiphyseal dysplasia, multiple, 22 tests
Epiphyseal dysplasia, multiple, 32 tests
Epiphyseal dysplasia, multiple, 62 tests
Episodic ataxia type 51 test
Episodic kinesigenic dyskinesia 12 tests
Erythrokeratodermia variabilis et progressiva 11 test
Exudative vitreoretinopathy 2, X-linked2 tests
Fabry disease3 tests
FADD-related immunodeficiency1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial cancer of breast8 tests
Familial cold autoinflammatory syndrome 11 test
Familial digital arthropathy-brachydactyly1 test
Familial hemophagocytic lymphohistiocytosis 23 tests
Familial hemophagocytic lymphohistiocytosis 32 tests
Familial hemophagocytic lymphohistiocytosis 42 tests
Familial hemophagocytic lymphohistiocytosis 52 tests
Familial hyperaldosteronism type III3 tests
Familial hypocalciuric hypercalcemia 11 test
Familial infantile myasthenia1 test
Familial infantile myoclonic epilepsy2 tests
Familial Mediterranean fever1 test
Familial Mediterranean fever, autosomal dominant1 test
Familial meningioma1 test
Familial partial lipodystrophy, Dunnigan type7 tests
Familial spontaneous pneumothorax1 test
Familial temporal lobe epilepsy 51 test
Familial temporal lobe epilepsy 71 test
Fanconi anemia complementation group A2 tests
Fanconi anemia complementation group B4 tests
Fanconi anemia complementation group C2 tests
Fanconi anemia complementation group D12 tests
Fanconi anemia complementation group D22 tests
Fanconi anemia complementation group E2 tests
Fanconi anemia complementation group F2 tests
Fanconi anemia complementation group G2 tests
Fanconi anemia complementation group I2 tests
Fanconi anemia complementation group J2 tests
Fanconi anemia complementation group L2 tests
Fanconi anemia complementation group N2 tests
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group P2 tests
Fanconi anemia complementation group Q2 tests
Fanconi anemia complementation group U1 test
Fatal infantile hypertonic myofibrillar myopathy2 tests
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
Febrile seizures, familial, 111 test
Febrile seizures, familial, 42 tests
Febrile seizures, familial, 82 tests
Feingold syndrome type 11 test
Fetal akinesia deformation sequence 11 test
Fetal akinesia-cerebral and retinal hemorrhage syndrome3 tests
FG syndrome 13 tests
FG syndrome 25 tests
FG syndrome 44 tests
Fibrochondrogenesis 12 tests
Fibrochondrogenesis 23 tests
Fibromatosis, gingival, 15 tests
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
Focal segmental glomerulosclerosis 51 test
FOXG1 disorder4 tests
Fragile X syndrome4 tests
Fragile X-associated tremor/ataxia syndrome4 tests
Frontometaphyseal dysplasia 15 tests
Frontotemporal dementia3 tests
GAPO syndrome1 test
Gastric lymphoma2 tests
Gastrointestinal stromal tumor1 test
Geleophysic dysplasia 23 tests
Generalized epilepsy with febrile seizures plus, type 16 tests
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized juvenile polyposis/juvenile polyposis coli1 test
Gillessen-Kaesbach-Nishimura syndrome1 test
Glaucoma, normal tension, susceptibility to1 test
Glioma susceptibility 21 test
Glioma susceptibility 32 tests
Global developmental delay1 test
Glucose-6-phosphate transport defect3 tests
Glycine encephalopathy2 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency2 tests
Glycogen storage disease, type II2 tests
Glycogen storage disease, type V1 test
Gnathodiaphyseal dysplasia1 test
GNE myopathy2 tests
Goldberg-Shprintzen syndrome1 test
GRACILE syndrome1 test
Griscelli syndrome type 24 tests
Guillain-Barre syndrome, familial1 test
Hashimoto thyroiditis1 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hearing loss, autosomal dominant 731 test
Hearing loss, autosomal recessive 571 test
Hearing loss, X-linked 14 tests
Hearing loss, X-linked 41 test
Heart-hand syndrome, Slovenian type7 tests
Hepatitis C virus, susceptibility to3 tests
Hepatocellular carcinoma1 test
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11 test
Hereditary cryohydrocytosis with reduced stomatin3 tests
Hereditary diffuse gastric adenocarcinoma5 tests
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy with optic atrophy2 tests
Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
Hereditary pancreatitis3 tests
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 171 test
Hereditary spastic paraplegia 22 tests
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 471 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 71 test
Hereditary spastic paraplegia 771 test
Hereditary spastic paraplegia 9A2 tests
Hereditary spherocytosis type 21 test
Hereditary spherocytosis type 31 test
Hereditary spherocytosis type 41 test
Hereditary spherocytosis type 51 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hermansky-Pudlak syndrome 24 tests
Hermansky-Pudlak syndrome 92 tests
Heterotopia, periventricular, X-linked dominant5 tests
Hidrotic ectodermal dysplasia syndrome2 tests
Histiocytic medullary reticulosis2 tests
HSD10 mitochondrial disease2 tests
Hurthle cell carcinoma of thyroid1 test
Hutchinson-Gilford syndrome7 tests
Hydrolethalus syndrome 21 test
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2 tests
Hypercholanemia, familial1 test
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperkalemic periodic paralysis2 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperthyroxinemia, dystransthyretinemic4 tests
Hypertrichotic osteochondrodysplasia Cantu type3 tests
Hypertrophic cardiomyopathy 19 tests
Hypertrophic cardiomyopathy 103 tests
Hypertrophic cardiomyopathy 115 tests
Hypertrophic cardiomyopathy 124 tests
Hypertrophic cardiomyopathy 134 tests
Hypertrophic cardiomyopathy 144 tests
Hypertrophic cardiomyopathy 154 tests
Hypertrophic cardiomyopathy 163 tests
Hypertrophic cardiomyopathy 172 tests
Hypertrophic cardiomyopathy 184 tests
Hypertrophic cardiomyopathy 25 tests
Hypertrophic cardiomyopathy 204 tests
Hypertrophic cardiomyopathy 255 tests
Hypertrophic cardiomyopathy 35 tests
Hypertrophic cardiomyopathy 45 tests
Hypertrophic cardiomyopathy 63 tests
Hypertrophic cardiomyopathy 75 tests
Hypertrophic cardiomyopathy 83 tests
Hypertrophic cardiomyopathy 95 tests
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome1 test
Hypokalemic periodic paralysis, type 22 tests
Hypomyelinating leukodystrophy 41 test
Hypoplastic left heart syndrome 21 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotonia with lactic acidemia and hyperammonemia1 test
Ichthyosis, hystrix-like, with hearing loss2 tests
IFAP syndrome 1, with or without BRESHECK syndrome2 tests
Immunodeficiency 1042 tests
Immunodeficiency 141 test
Immunodeficiency 181 test
Immunodeficiency 191 test
Immunodeficiency 251 test
Immunodeficiency 31B1 test
Immunodeficiency 32B1 test
Immunodeficiency 36 with lymphoproliferation1 test
Immunodeficiency 372 tests
Inborn glycerol kinase deficiency2 tests
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
Infantile convulsions and choreoathetosis2 tests
Infantile cortical hyperostosis4 tests
Infantile hypophosphatasia2 tests
Infantile onset spinocerebellar ataxia1 test
Intellectual disability1 test
Intellectual disability, autosomal dominant 13 tests
Intellectual disability, autosomal dominant 132 tests
Intellectual disability, autosomal dominant 141 test
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 161 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 62 tests
Intellectual disability, autosomal dominant 91 test
Intellectual disability, autosomal recessive 121 test
Intellectual disability, autosomal recessive 132 tests
Intellectual disability, autosomal recessive 181 test
Intellectual disability, autosomal recessive 271 test
Intellectual disability, autosomal recessive 31 test
Intellectual disability, autosomal recessive 52 tests
Intellectual disability, autosomal recessive 71 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 192 tests
Intellectual disability, X-linked 212 tests
Intellectual disability, X-linked 302 tests
Intellectual disability, X-linked 412 tests
Intellectual disability, X-linked 462 tests
Intellectual disability, X-linked 582 tests
Intellectual disability, X-linked 632 tests
Intellectual disability, X-linked 722 tests
Intellectual disability, X-linked 92 tests
Intellectual disability, X-linked 902 tests
Intellectual disability, X-linked 912 tests
Intellectual disability, X-linked 932 tests
Intellectual disability, X-linked 962 tests
Intellectual disability, X-linked 972 tests
Intellectual disability, X-linked 992 tests
Intellectual disability, X-linked 99, syndromic, female-restricted2 tests
Intellectual disability, X-linked syndromic, Turner type2 tests
Intellectual disability, X-linked, syndromic, 352 tests
Intellectual disability, X-linked, with or without seizures, ARX-related6 tests
Intellectual disability, X-linked, with panhypopituitarism2 tests
Intellectual disability-hypotonic facies syndrome, X-linked, 14 tests
Intellectual disability-severe speech delay-mild dysmorphism syndrome2 tests
Intervertebral disc disorder2 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked5 tests
Isolated focal cortical dysplasia type II1 test
Jawad syndrome1 test
Jervell and Lange-Nielsen syndrome 14 tests
Jervell and Lange-Nielsen syndrome 24 tests
Joubert syndrome 103 tests
Joubert syndrome 141 test
Joubert syndrome 151 test
Joubert syndrome 161 test
Joubert syndrome 171 test
Joubert syndrome 21 test
Joubert syndrome 281 test
Joubert syndrome 31 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 91 test
Joubert syndrome with renal defect1 test
Juvenile myelomonocytic leukemia6 tests
Juvenile myoclonic epilepsy1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
Kahrizi syndrome1 test
Kartagener syndrome1 test
Keratitis fugax hereditaria1 test
Keratolytic winter erythema1 test
Keratosis follicularis spinulosa decalvans, X-linked2 tests
Keratosis palmoplantaris striata 24 tests
Kleefstra syndrome 12 tests
Kniest dysplasia2 tests
Knuckle pads, deafness AND leukonychia syndrome2 tests
Koolen-de Vries syndrome1 test
Kostmann syndrome2 tests
Lafora disease1 test
Landau-Kleffner syndrome2 tests
Large congenital melanocytic nevus5 tests
Leber congenital amaurosis 101 test
Left ventricular noncompaction 13 tests
Left ventricular noncompaction 105 tests
Legg-Calve-Perthes disease2 tests
Legius syndrome4 tests
Leigh syndrome1 test
LEOPARD syndrome 16 tests
LEOPARD syndrome 25 tests
LEOPARD syndrome 35 tests
Lesch-Nyhan syndrome2 tests
Lethal acantholytic epidermolysis bullosa4 tests
Lethal congenital glycogen storage disease of heart3 tests
Lethal multiple pterygium syndrome1 test
Lethal tight skin contracture syndrome7 tests
Leukocyte adhesion deficiency type II1 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Leukoencephalopathy, progressive, with ovarian failure1 test
Limb-girdle muscular dystrophy due to POMK deficiency1 test
Linear nevus sebaceous syndrome5 tests
Linear skin defects with multiple congenital anomalies 12 tests
Lipoic acid synthetase deficiency1 test
Lissencephaly 42 tests
Lissencephaly due to LIS1 mutation1 test
Lissencephaly due to TUBA1A mutation2 tests
Lissencephaly type 1 due to doublecortin gene mutation3 tests
Loeys-Dietz syndrome 13 tests
Loeys-Dietz syndrome 23 tests
Loeys-Dietz syndrome 43 tests
Long QT syndrome 14 tests
Long QT syndrome 103 tests
Long QT syndrome 113 tests
Long QT syndrome 123 tests
Long QT syndrome 133 tests
Long QT syndrome 143 tests
Long QT syndrome 24 tests
Long QT syndrome 36 tests
Long QT syndrome 54 tests
Long QT syndrome 63 tests
Long QT syndrome 96 tests
Lowe syndrome2 tests
Lung carcinoma6 tests
Lymphangiomyomatosis1 test
Lymphoproliferative syndrome 13 tests
Lymphoproliferative syndrome 23 tests
Lysinuric protein intolerance1 test
Macrocephaly-autism syndrome2 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular degeneration, age-related, 32 tests
Macular degeneration, early-onset1 test
Macular degeneration, X-linked atrophic1 test
Macular dystrophy with central cone involvement1 test
Majeed syndrome1 test
Malaria, susceptibility to1 test
Malignant hyperthermia, susceptibility to, 12 tests
Malignant tumor of esophagus3 tests
Malignant tumor of testis2 tests
Malignant tumor of urinary bladder5 tests
Mandibuloacral dysplasia with type A lipodystrophy7 tests
Marfan syndrome3 tests
Marinesco-Sjögren syndrome1 test
Marshall syndrome2 tests
Martsolf syndrome2 tests
MASA syndrome2 tests
MASS syndrome3 tests
Meckel syndrome, type 11 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 41 test
Meckel syndrome, type 51 test
Meckel syndrome, type 61 test
Medulloblastoma2 tests
Megaconial type congenital muscular dystrophy2 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
MEGF10-related myopathy2 tests
Meier-Gorlin syndrome 11 test
Meier-Gorlin syndrome 21 test
Meier-Gorlin syndrome 31 test
Meier-Gorlin syndrome 41 test
Meier-Gorlin syndrome 51 test
Melanoma, cutaneous malignant, susceptibility to, 11 test
Melanoma, cutaneous malignant, susceptibility to, 92 tests
Melnick-Needles syndrome5 tests
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
Menkes kinky-hair syndrome4 tests
Merosin deficient congenital muscular dystrophy2 tests
Mesothelioma, malignant2 tests
Metachondromatosis6 tests
Metaphyseal chondrodysplasia, McKusick type2 tests
Metaphyseal dysplasia without hypotrichosis2 tests
Metatropic dysplasia1 test
Mevalonic aciduria1 test
MGAT2-congenital disorder of glycosylation1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
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 with or without chorioretinopathy, lymphedema, or intellectual disability1 test
Microcephaly, epilepsy, and diabetes syndrome1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcephaly, seizures, and developmental delay4 tests
Microphthalmia, syndromic 12 tests
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 33 tests
Mitochondrial complex I deficiency, nuclear type 13 tests
Mitochondrial complex II deficiency, nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 21 test
Mitochondrial complex III deficiency nuclear type 31 test
Mitochondrial complex III deficiency nuclear type 41 test
Mitochondrial complex IV deficiency, nuclear type 11 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 21 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 31 test
Mitochondrial DNA depletion syndrome 11 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 14B (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 4b3 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 8a1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 31 test
MOGS-congenital disorder of glycosylation1 test
Monocytopenia with susceptibility to infections4 tests
Mowat-Wilson syndrome4 tests
Moyamoya disease 52 tests
MPDU1-congenital disorder of glycosylation1 test
MPI-congenital disorder of glycosylation1 test
Mucopolysaccharidosis, MPS-II2 tests
Multiple congenital anomalies1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple epiphyseal dysplasia, Al-Gazali type1 test
Multiple epiphyseal dysplasia, Beighton type2 tests
Multiple mitochondrial dysfunctions syndrome 11 test
Multiple mitochondrial dysfunctions syndrome 21 test
Multiple myeloma4 tests
Multiple sclerosis, susceptibility to, 51 test
Multiple self-healing squamous epithelioma3 tests
Multiple system atrophy1 test
Multisystemic smooth muscle dysfunction syndrome2 tests
Muscle eye brain disease3 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 46 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 73 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 82 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A133 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A23 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A53 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A63 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A92 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B13 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B23 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B33 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B46 tests
Muscular dystrophy-dystroglycanopathy type B53 tests
Muscular dystrophy-dystroglycanopathy type B63 tests
Mutilating keratoderma2 tests
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Mycobacterium tuberculosis, susceptibility to1 test
Myelodysplastic syndrome4 tests
MYH7-related skeletal myopathy7 tests
Myhre syndrome1 test
Myofibrillar myopathy 22 tests
Myofibrillar myopathy 31 test
Myofibrillar myopathy 45 tests
Myofibrillar myopathy 64 tests
Myopathy, centronuclear, 22 tests
Myopathy, lactic acidosis, and sideroblastic anemia 11 test
Myopathy, lactic acidosis, and sideroblastic anemia 21 test
Myopathy, myofibrillar, 9, with early respiratory failure5 tests
Myopathy, myosin storage, autosomal recessive7 tests
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopathy, tubular aggregate, 11 test
Myopathy, tubular aggregate, 21 test
Myopia 61 test
Myosclerosis2 tests
Myosin storage myopathy7 tests
MYPN-related myopathy2 tests
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome1 test
Namaqualand hip dysplasia2 tests
Nance-Horan syndrome2 tests
Naxos disease4 tests
NDE1-related microhydranencephaly2 tests
Nemaline myopathy 22 tests
Nemaline myopathy 52 tests
Nemaline myopathy 62 tests
Nemaline myopathy 72 tests
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neonatal severe primary hyperparathyroidism1 test
Neoplasm of stomach1 test
Nephronophthisis 11 test
Nephronophthisis 111 test
Nephrotic syndrome 151 test
Neurocutaneous melanocytosis5 tests
Neurodegeneration with brain iron accumulation 51 test
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language4 tests
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1 test
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1 test
Neurogenic scapuloperoneal syndrome, Kaeser type4 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2B1 test
Neuronopathy, distal hereditary motor, type 5A1 test
Neuropathy, hereditary sensory, type 2C1 test
Neutropenia, severe congenital, 1, autosomal dominant3 tests
Neutropenia, severe congenital, 2, autosomal dominant2 tests
Neutrophil immunodeficiency syndrome2 tests
Nijmegen breakage syndrome-like disorder1 test
Non-Hodgkin lymphoma4 tests
Nonimmune chronic idiopathic neutropenia of adults2 tests
Nonpapillary renal cell carcinoma1 test
Noonan syndrome 16 tests
Noonan syndrome 35 tests
Noonan syndrome 45 tests
Noonan syndrome 55 tests
Noonan syndrome 65 tests
Noonan syndrome 75 tests
Noonan syndrome-like disorder with loose anagen hair 14 tests
Norman-Roberts syndrome1 test
Occipital pachygyria and polymicrogyria1 test
Oculofaciocardiodental syndrome2 tests
Ogden syndrome2 tests
Olmsted syndrome, X-linked2 tests
Optic atrophy 31 test
Optic atrophy 51 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Ornithine carbamoyltransferase deficiency2 tests
Orofaciodigital syndrome I3 tests
Orofaciodigital syndrome type 61 test
Osteogenesis imperfecta type 102 tests
Osteogenesis imperfecta type 112 tests
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 132 tests
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 161 test
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 62 tests
Osteogenesis imperfecta type 72 tests
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I4 tests
Osteogenesis imperfecta type III4 tests
Osteogenesis imperfecta with normal sclerae, dominant form4 tests
Osteogenesis imperfecta, perinatal lethal4 tests
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
Oto-palato-digital syndrome, type I5 tests
Oto-palato-digital syndrome, type II5 tests
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant3 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive3 tests
Palmoplantar keratoderma-deafness syndrome2 tests
Pancreatic cancer, susceptibility to, 22 tests
Pancreatic cancer, susceptibility to, 32 tests
Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
Panhypopituitarism, X-linked2 tests
Paramyotonia congenita of Von Eulenburg2 tests
Parastremmatic dwarfism1 test
Paroxysmal nocturnal hemoglobinuria 11 test
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
Partington syndrome6 tests
Pelizaeus-Merzbacher disease2 tests
Pendred syndrome1 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive2 tests
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 42 tests
Perrault syndrome 51 test
Pettigrew syndrome2 tests
PGM1-congenital disorder of glycosylation1 test
Phelan-McDermid syndrome1 test
Pheochromocytoma1 test
Pheochromocytoma/paraganglioma syndrome 11 test
Pheochromocytoma/paraganglioma syndrome 21 test
Pheochromocytoma/paraganglioma syndrome 31 test
Pheochromocytoma/paraganglioma syndrome 41 test
Pheochromocytoma/paraganglioma syndrome 51 test
Phosphate transport defect3 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
Phosphoribosylpyrophosphate synthetase superactivity4 tests
Pick disease3 tests
Pili torti-deafness syndrome1 test
Pitt-Hopkins syndrome4 tests
Pitt-Hopkins-like syndrome 23 tests
Pituitary adenoma 5, multiple types1 test
Platyspondylic dysplasia, Torrance type2 tests
PMM2-congenital disorder of glycosylation1 test
Poikiloderma with neutropenia3 tests
Polycystic liver disease 3 with or without kidney cysts1 test
Polymicrogyria with optic nerve hypoplasia1 test
Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
Pontocerebellar hypoplasia type 1A2 tests
Pontocerebellar hypoplasia type 1B1 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B2 tests
Pontocerebellar hypoplasia type 2C2 tests
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 62 tests
Porokeratosis 3, disseminated superficial actinic type1 test
Portal hypertension, noncirrhotic1 test
Postmenopausal osteoporosis4 tests
Potassium-aggravated myotonia2 tests
Premature ovarian failure 13 tests
Premature ovarian failure 151 test
Preterm premature rupture of membranes2 tests
Primary ciliary dyskinesia 101 test
Primary ciliary dyskinesia 111 test
Primary ciliary dyskinesia 121 test
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 141 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 161 test
Primary ciliary dyskinesia 171 test
Primary ciliary dyskinesia 181 test
Primary ciliary dyskinesia 191 test
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 251 test
Primary ciliary dyskinesia 31 test
Primary ciliary dyskinesia 61 test
Primary ciliary dyskinesia 71 test
Primary ciliary dyskinesia 91 test
Primary erythromelalgia2 tests
Primary immunodeficiency syndrome due to p14 deficiency1 test
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1 test
Primary myelofibrosis2 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome3 tests
Progressive demyelinating neuropathy with bilateral striatal necrosis2 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 13 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 13 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41 test
Progressive familial heart block, type 1A6 tests
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 61 test
Progressive scapulohumeroperoneal distal myopathy2 tests
Progressive sclerosing poliodystrophy3 tests
Prostate cancer4 tests
Pseudo-TORCH syndrome 11 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 22 tests
Pulp calcification1 test
Purine-nucleoside phosphorylase deficiency2 tests
PYCR1-related de Barsy syndrome2 tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyridoxal phosphate-responsive seizures2 tests
Pyridoxine-dependent epilepsy2 tests
Pyropoikilocytosis, hereditary1 test
Pyruvate carboxylase deficiency1 test
Pyruvate dehydrogenase E1-alpha deficiency3 tests
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E2 deficiency1 test
Pyruvate dehydrogenase E3 deficiency1 test
Pyruvate dehydrogenase E3-binding protein deficiency1 test
Pyruvate dehydrogenase phosphatase deficiency1 test
Radial aplasia-thrombocytopenia syndrome1 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 12 tests
Rafiq syndrome1 test
Renal carnitine transport defect1 test
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Renpenning syndrome3 tests
Reticular dysgenesis1 test
Retinitis pigmentosa 233 tests
Retinitis pigmentosa 31 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 611 test
Retinitis pigmentosa 763 tests
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Rett syndrome6 tests
Revesz syndrome2 tests
RFT1-congenital disorder of glycosylation1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhabdoid tumor predisposition syndrome 21 test
Rienhoff syndrome3 tests
RIN2 syndrome2 tests
Rippling muscle disease1 test
Rippling muscle disease 26 tests
Ritscher-Schinzel syndrome 22 tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked4 tests
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Sarcotubular myopathy1 test
Scapuloperoneal spinal muscular atrophy1 test
Schizophrenia 151 test
Schneckenbecken dysplasia1 test
Seckel syndrome 11 test
Seckel syndrome 21 test
Seckel syndrome 41 test
Seckel syndrome 51 test
Seckel syndrome 61 test
Seizures, benign familial infantile, 22 tests
Seizures, benign familial infantile, 34 tests
Seizures, benign familial infantile, 52 tests
Seizures, benign familial neonatal, 13 tests
Seizures, benign familial neonatal, 22 tests
Sengers syndrome1 test
Senior-Loken syndrome 11 test
Senior-Loken syndrome 61 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis3 tests
Severe combined immunodeficiency due to CORO1A deficiency2 tests
Severe combined immunodeficiency due to DCLRE1C deficiency2 tests
Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency2 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive2 tests
Severe myoclonic epilepsy in infancy3 tests
Severe neonatal-onset encephalopathy with microcephaly6 tests
Severe neurodegenerative syndrome with lipodystrophy1 test
Severe X-linked mitochondrial encephalomyopathy1 test
Severe X-linked myotubular myopathy2 tests
Short QT syndrome type 14 tests
Short QT syndrome type 24 tests
Short QT syndrome type 34 tests
SHORT syndrome1 test
Shprintzen-Goldberg syndrome1 test
Shwachman-Diamond syndrome 13 tests
Sialuria2 tests
Sick sinus syndrome 16 tests
Sick sinus syndrome 2, autosomal dominant3 tests
Sick sinus syndrome 3, susceptibility to4 tests
Simpson-Golabi-Behmel syndrome type 12 tests
Simpson-Golabi-Behmel syndrome type 23 tests
Sinoatrial node dysfunction and deafness1 test
SLC35A1-congenital disorder of glycosylation1 test
Slow-Channel Congenital Myasthenia Syndrome1 test
SMARCB1-related schwannomatosis1 test
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome2 tests
Sodium serum level quantitative trait locus 11 test
Sotos syndrome1 test
Southeast Asian ovalocytosis1 test
Spastic ataxia 31 test
Spermatogenic failure 281 test
Spinocerebellar ataxia type 19/223 tests
Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
Spondyloepiphyseal dysplasia congenita2 tests
Spondyloepiphyseal dysplasia with metatarsal shortening2 tests
Spondyloepiphyseal dysplasia, Stanescu type2 tests
Spondylometaphyseal dysplasia2 tests
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spondyloperipheral dysplasia2 tests
Squamous cell carcinoma of the head and neck1 test
SRD5A3-congenital disorder of glycosylation1 test
Stickler syndrome type 12 tests
Stickler syndrome type 22 tests
Stickler syndrome, type 42 tests
Stickler syndrome, type 52 tests
Stickler syndrome, type I, nonsyndromic ocular2 tests
Stiff skin syndrome3 tests
Stormorken syndrome1 test
SUDDEN INFANT DEATH SYNDROME6 tests
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B11 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Supravalvar aortic stenosis2 tests
Susceptibility to HIV infection1 test
Susceptibility to mononeuropathy of the median nerve, mild1 test
Syndromic X-linked intellectual disability 142 tests
Syndromic X-linked intellectual disability 942 tests
Syndromic X-linked intellectual disability Claes-Jensen type2 tests
Syndromic X-linked intellectual disability Hedera type3 tests
Syndromic X-linked intellectual disability Lubs type6 tests
Syndromic X-linked intellectual disability Najm type4 tests
Syndromic X-linked intellectual disability Nascimento type2 tests
Syndromic X-linked intellectual disability Raymond type2 tests
Syndromic X-linked intellectual disability Siderius type2 tests
Syndromic X-linked intellectual disability Snyder type2 tests
Systemic lupus erythematosus1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency2 tests
T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
TCR-alpha-beta-positive T-cell deficiency1 test
Terminal osseous dysplasia-pigmentary defects syndrome5 tests
Tetralogy of Fallot1 test
Thakker-Donnai syndrome1 test
Thrombocythemia 11 test
Thrombocythemia 22 tests
Thrombocytopenia 13 tests
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Thyroid cancer, nonmedullary, 25 tests
Tibial muscular dystrophy5 tests
Timothy syndrome4 tests
TMEM165-congenital disorder of glycosylation1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tobacco addiction, susceptibility to1 test
Tropical pancreatitis1 test
Trypsinogen deficiency1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 22 tests
Type 1 diabetes mellitus 121 test
Type 2 diabetes mellitus2 tests
Ullrich congenital muscular dystrophy 1A2 tests
Ullrich congenital muscular dystrophy 22 tests
Unverricht-Lundborg syndrome1 test
Uruguay Faciocardiomusculoskeletal syndrome1 test
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1D1 test
Usher syndrome type 1F1 test
Usher syndrome type 1G1 test
Usher syndrome type 1J1 test
Usher syndrome type 2A1 test
Usher syndrome type 2C2 tests
Usher syndrome type 2D1 test
Usher syndrome type 31 test
Usher syndrome type 3B1 test
VACTERL with hydrocephalus1 test
Ventricular fibrillation, paroxysmal familial, type 16 tests
Ventricular septal defect 31 test
Vesicoureteral reflux 82 tests
Vitiligo-associated multiple autoimmune disease susceptibility 11 test
Warburg micro syndrome 12 tests
Warburg micro syndrome 22 tests
Warburg micro syndrome 32 tests
Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
Weill-Marchesani syndrome 11 test
Weill-Marchesani syndrome 2, dominant3 tests
Wilms tumor 14 tests
Wiskott-Aldrich syndrome3 tests
Wiskott-Aldrich syndrome 21 test
Wolff-Parkinson-White pattern3 tests
Wolfram syndrome 12 tests
Wolfram syndrome 21 test
Wolfram-like syndrome2 tests
Woolly hair-skin fragility syndrome4 tests
Wrinkly skin syndrome2 tests
X-linked complicated corpus callosum dysgenesis2 tests
X-linked cone-rod dystrophy 11 test
X-linked distal spinal muscular atrophy type 34 tests
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
X-linked Emery-Dreifuss muscular dystrophy4 tests
X-linked hydrocephalus syndrome2 tests
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia2 tests
X-linked intellectual disability Cabezas type2 tests
X-linked intellectual disability with marfanoid habitus3 tests
X-linked intellectual disability, Cantagrel type2 tests
X-linked intellectual disability, Stocco dos Santos type2 tests
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome2 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome3 tests
X-linked intellectual disability-psychosis-macroorchidism syndrome6 tests
X-linked lissencephaly with abnormal genitalia6 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency2 tests
X-linked lymphoproliferative disease due to XIAP deficiency2 tests
X-linked mixed hearing loss with perilymphatic gusher1 test
X-linked myopathy with postural muscle atrophy1 test
X-linked Opitz G/BBB syndrome2 tests
X-linked parkinsonism-spasticity syndrome3 tests
X-linked scapuloperoneal muscular dystrophy1 test
X-linked severe combined immunodeficiency2 tests
X-linked severe congenital neutropenia3 tests
Xeroderma pigmentosum, group F2 tests
XFE progeroid syndrome2 tests
Yunis-Varon syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 09D2228520, Expiration date: 2027-09-28
CAP, Number: 9155973, Expiration date: 2026-12-04

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.