Genome Diagnostics Laboratory

Personnel

Director: JK Ploos van Amstel, PhD, Lab Director
Phone: +31 887553810
Fax: +31 887553801
Email: j.k.ploosvanamstel@umcutrecht.nl
S.J.B. Holwerda, PhD, Staff
Email: genoomdiagnostiek@umcutrecht.nl

Conditions and tests

667 conditions/phenotypes with 174 tests
Enter text to narrow down the list

3-Methylglutaconic aciduria type 22 tests
46,XY sex reversal 31 test
Aarskog syndrome1 test
Absence seizure1 test
Acne inversa, familial, 11 test
Acne inversa, familial, 21 test
Acquired hemoglobin H disease1 test
Acromicric dysplasia1 test
Actin accumulation myopathy2 tests
Action myoclonus-renal failure syndrome1 test
Acute myeloid leukemia1 test
Adenylosuccinate lyase deficiency1 test
Adult neuronal ceroid lipofuscinosis1 test
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 6, autosomal recessive1 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
Alagille syndrome due to a JAG1 point mutation1 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alternating hemiplegia of childhood 11 test
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta hypomaturation type 2A31 test
Amelogenesis imperfecta hypomaturation type 2A41 test
Amelogenesis imperfecta type 1C1 test
Amelogenesis imperfecta type 1E1 test
Amelogenesis imperfecta type 1G1 test
Amelogenesis imperfecta type 2A11 test
Amelogenesis imperfecta, hypocalcification type1 test
Amyloidosis, hereditary systemic 12 tests
Amyotrophic lateral sclerosis type 12 tests
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 112 tests
Amyotrophic lateral sclerosis type 2, juvenile2 tests
Amyotrophic lateral sclerosis type 43 tests
Amyotrophic lateral sclerosis type 62 tests
Amyotrophic lateral sclerosis type 82 tests
Amyotrophic lateral sclerosis type 92 tests
Andersen Tawil syndrome1 test
Androgen resistance syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome2 tests
ANKRD1-related dilated cardiomyopathy1 test
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
Arrhythmogenic right ventricular dysplasia 13 tests
Arrhythmogenic right ventricular dysplasia 103 tests
Arrhythmogenic right ventricular dysplasia 113 tests
Arrhythmogenic right ventricular dysplasia 123 tests
Arrhythmogenic right ventricular dysplasia 22 tests
Arrhythmogenic right ventricular dysplasia 53 tests
Arrhythmogenic right ventricular dysplasia 83 tests
Arrhythmogenic right ventricular dysplasia 93 tests
Arterial tortuosity syndrome1 test
Arthrogryposis, distal, type 1A1 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 133 tests
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 21 test
Atrial septal defect 32 tests
Atrial septal defect 41 test
Atrial septal defect 52 tests
Atrial septal defect 71 test
Atrioventricular septal defect 41 test
Atrioventricular septal defect and common atrioventricular junction1 test
Atrioventricular septal defect, susceptibility to, 21 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Autism, susceptibility to, 151 test
Autism, susceptibility to, X-linked 32 tests
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome2 tests
Autoimmune lymphoproliferative syndrome type 13 tests
Autoimmune lymphoproliferative syndrome type 2A2 tests
Autoimmune lymphoproliferative syndrome type 2B1 test
Autoimmune lymphoproliferative syndrome type 42 tests
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 12 tests
Autosomal dominant nocturnal frontal lobe epilepsy 32 tests
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 52 tests
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal recessive Kenny-Caffey 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 2M1 test
Azorean disease1 test
Becker muscular dystrophy1 test
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Benign Rolandic epilepsy1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency1 test
Blau syndrome1 test
Blepharophimosis - intellectual disability syndrome, MKB 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
BNAR syndrome1 test
Borjeson-Forssman-Lehmann syndrome1 test
Branchiootic syndrome 11 test
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Brugada syndrome 12 tests
Brugada syndrome 21 test
Brugada syndrome 41 test
Brugada syndrome 53 tests
Brugada syndrome 61 test
Brugada syndrome 71 test
Brugada syndrome 81 test
Candidiasis, familial, 62 tests
Carcinoma of pancreas2 tests
Cardiac arrhythmia, ankyrin-B-related1 test
Cardiac conduction abnormality1 test
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 22 tests
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy2 tests
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Carpal tunnel syndrome1 test
Cataract 16 multiple types2 tests
Catecholaminergic polymorphic ventricular tachycardia 12 tests
Catecholaminergic polymorphic ventricular tachycardia 22 tests
CBL-related disorder1 test
Central core myopathy1 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Cerebral folate transport deficiency1 test
Cernunnos-XLF deficiency1 test
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 type 2B12 tests
Charcot-Marie-Tooth disease type 4J1 test
Chilblain lupus 11 test
Chilblain lupus 21 test
Childhood onset GLUT1 deficiency syndrome 24 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Christianson syndrome1 test
Chromosome 2p16.3 deletion syndrome1 test
Chromosome Xp11.22 duplication syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome2 tests
Chédiak-Higashi syndrome1 test
Classic homocystinuria1 test
Cleft palate with or without ankyloglossia, X-linked1 test
Cognitive impairment with or without cerebellar ataxia1 test
Colorectal cancer, hereditary nonpolyposis, type 61 test
Combined immunodeficiency due to DOCK8 deficiency3 tests
Combined immunodeficiency due to LRBA deficiency1 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to partial RAG1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined immunodeficiency due to ZAP70 deficiency2 tests
Combined immunodeficiency with skin granulomas1 test
Combined immunodeficiency, X-linked1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital contractural arachnodactyly1 test
Congenital heart defects, multiple types, 61 test
Congenital heart disease1 test
Congenital microvillous atrophy1 test
Congenital multicore myopathy with external ophthalmoplegia1 test
Congenital muscular dystrophy due to LMNA mutation2 tests
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myopathy 232 tests
Congenital myopathy 4B, autosomal recessive2 tests
Congenital myopathy with fiber type disproportion1 test
Conotruncal heart malformations1 test
Corpus callosum agenesis-abnormal genitalia syndrome2 tests
Cortical dysplasia-focal epilepsy syndrome1 test
Costello syndrome1 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Creatine transporter deficiency1 test
Cutis laxa, autosomal dominant 12 tests
Danon disease1 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of phosphoserine phosphatase2 tests
Desmin-related myofibrillar myopathy3 tests
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy, 13 tests
Developmental and epileptic encephalopathy, 113 tests
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 142 tests
Developmental and epileptic encephalopathy, 163 tests
Developmental and epileptic encephalopathy, 22 tests
Developmental and epileptic encephalopathy, 43 tests
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 72 tests
Developmental and epileptic encephalopathy, 82 tests
Developmental and epileptic encephalopathy, 93 tests
Diabetes insipidus, nephrogenic, autosomal1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diabetes mellitus type 11 test
DiGeorge syndrome1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C3 tests
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I3 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P2 tests
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S2 tests
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 2B1 test
Dilated cardiomyopathy 3B1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
Disorder of cardiovascular system1 test
Distal myopathy with posterior leg and anterior hand involvement2 tests
Distal myopathy, Tateyama type2 tests
DNA ligase IV deficiency1 test
DOORS syndrome3 tests
Duchenne muscular dystrophy1 test
DYRK1A-related intellectual disability syndrome1 test
Dystonia 94 tests
Early myoclonic encephalopathy2 tests
Early-onset myopathy with fatal cardiomyopathy1 test
EAST syndrome1 test
Ectopia lentis 1, isolated, autosomal dominant1 test
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, classic type, 11 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 41 test
Elevated circulating creatine kinase concentration2 tests
Elliptocytosis 11 test
Elliptocytosis 21 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy due to GLUT1 deficiency4 tests
Encephalopathy, acute, infection-induced, susceptibility to, 41 test
Epilepsy, childhood absence 21 test
Epilepsy, childhood absence, susceptibility to, 51 test
Epilepsy, childhood absence, susceptibility to, 61 test
Epilepsy, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 102 tests
Epilepsy, idiopathic generalized, susceptibility to, 112 tests
Epilepsy, idiopathic generalized, susceptibility to, 124 tests
Epilepsy, idiopathic generalized, susceptibility to, 131 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, idiopathic generalized, susceptibility to, 91 test
Epilepsy, progressive myoclonic, 1B2 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Episodic ataxia type 11 test
Episodic ataxia type 23 tests
Episodic ataxia type 51 test
Episodic kinesigenic dyskinesia 12 tests
Fabry disease1 test
FADD-related immunodeficiency1 test
Familial acute necrotizing encephalopathy1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial cold autoinflammatory syndrome 12 tests
Familial cold autoinflammatory syndrome 22 tests
Familial cold autoinflammatory syndrome 31 test
Familial hemophagocytic lymphohistiocytosis 22 tests
Familial hemophagocytic lymphohistiocytosis 32 tests
Familial hemophagocytic lymphohistiocytosis 42 tests
Familial hemophagocytic lymphohistiocytosis 52 tests
Familial hyperaldosteronism type III1 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypokalemia-hypomagnesemia1 test
Familial infantile myoclonic epilepsy3 tests
Familial Mediterranean fever2 tests
Familial Mediterranean fever, autosomal dominant1 test
Familial partial lipodystrophy, Dunnigan type2 tests
Fanconi anemia complementation group D11 test
Farber lipogranulomatosis1 test
Febrile seizures, familial, 41 test
Febrile seizures, familial, 81 test
FG syndrome 11 test
Fibromatosis, gingival, 11 test
Fibrous dysplasia of jaw1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 3, susceptibility to1 test
Fraser syndrome 13 tests
Friedreich ataxia 11 test
Frontotemporal dementia1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
Geleophysic dysplasia 21 test
Generalized epilepsy with febrile seizures plus, type 13 tests
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
Generalized pustular psoriasis2 tests
Glioma susceptibility 31 test
Graft-versus-host disease, susceptibility to1 test
Griscelli syndrome type 21 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
Heart-hand syndrome, Slovenian type2 tests
Hereditary spastic paraplegia 21 test
Hereditary spherocytosis type 11 test
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 21 test
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 5, autosomal1 test
Hirschsprung disease, susceptibility to, 31 test
Histiocytic medullary reticulosis1 test
Holt-Oram syndrome2 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
HSD10 mitochondrial disease1 test
Hutchinson-Gilford syndrome2 tests
Hydatidiform mole, recurrent, 11 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyper-IgM syndrome type 13 tests
Hyper-IgM syndrome type 22 tests
Hyper-IgM syndrome type 32 tests
Hyper-IgM syndrome type 51 test
Hyperekplexia 11 test
Hyperekplexia 21 test
Hyperimmunoglobulin D with periodic fever2 tests
Hyperthyroxinemia, dystransthyretinemic1 test
Hypertrichotic osteochondrodysplasia Cantu type2 tests
Hypertrophic cardiomyopathy 12 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 112 tests
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 142 tests
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 183 tests
Hypertrophic cardiomyopathy 191 test
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 32 tests
Hypertrophic cardiomyopathy 42 tests
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 91 test
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypoplastic left heart syndrome 21 test
Hypospadias 1, X-linked1 test
Hypothyroidism, congenital, nongoitrous, 51 test
Idiopathic generalized epilepsy1 test
Immune deficiency disease1 test
Immunodeficiency 1042 tests
Immunodeficiency 31B1 test
Immunodeficiency 351 test
Immunodeficiency 512 tests
Immunodeficiency 83, susceptibility to viral infections1 test
Immunodeficiency due to CD25 deficiency3 tests
Immunodeficiency due to defect in cd3-epsilon1 test
Immunodeficiency due to defect in CD3-gamma1 test
Immunodeficiency, common variable, 11 test
Immunodeficiency, common variable, 21 test
Immunodeficiency, common variable, 31 test
Immunodeficiency, common variable, 41 test
Immunodeficiency, common variable, 61 test
Immunoglobulin A deficiency 21 test
Immunoglobulin M, level of1 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Infantile convulsions and choreoathetosis2 tests
Infantile-onset ascending hereditary spastic paralysis1 test
Inflammatory bowel disease 252 tests
Inflammatory bowel disease 282 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual disability1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 22 tests
Intellectual disability, autosomal dominant 203 tests
Intellectual disability, autosomal dominant 52 tests
Intellectual disability, autosomal dominant 62 tests
Intellectual disability, X-linked 301 test
Intellectual disability, X-linked 721 test
Intellectual disability, X-linked 961 test
Intellectual disability, X-linked, with or without seizures, arx-related2 tests
Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Joubert syndrome 101 test
Juvenile myoclonic epilepsy1 test
Juvenile primary lateral sclerosis1 test
Kennedy disease1 test
Keratosis palmoplantaris striata 22 tests
Lafora disease1 test
Landau-Kleffner syndrome3 tests
Left ventricular noncompaction 11 test
Left ventricular noncompaction 102 tests
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Lethal acantholytic epidermolysis bullosa2 tests
Lethal congenital glycogen storage disease of heart1 test
Lethal tight skin contracture syndrome2 tests
Linear nevus sebaceous syndrome1 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 131 test
Long QT syndrome 32 tests
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 92 tests
Low phospholipid associated cholelithiasis1 test
Lung carcinoma1 test
Majeed syndrome1 test
Malignant hyperthermia, susceptibility to, 11 test
Mandibuloacral dysplasia with type A lipodystrophy2 tests
Marfan syndrome1 test
MASS syndrome1 test
Medulloblastoma1 test
Metachondromatosis1 test
Mevalonic aciduria1 test
Microcephaly, seizures, and developmental delay3 tests
Microvascular complications of diabetes, susceptibility to, 41 test
Migraine, familial hemiplegic, 13 tests
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 33 tests
Mowat-Wilson syndrome2 tests
Moyamoya disease 51 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 11 test
Multiple sclerosis, susceptibility to, 51 test
Multiple self-healing squamous epithelioma1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
MYH7-related skeletal myopathy2 tests
Myoclonic epilepsy, juvenile, susceptibility to, 31 test
Myofibrillar myopathy 22 tests
Myofibrillar myopathy 32 tests
Myofibrillar myopathy 43 tests
Myofibrillar myopathy 52 tests
Myofibrillar myopathy 62 tests
Myopathy1 test
Myopathy, reducing body, X-linked, childhood-onset2 tests
Myopathy, reducing body, X-linked, early-onset, severe2 tests
Myopathy, tubular aggregate, 11 test
Myosin storage myopathy2 tests
Naxos disease2 tests
Nemaline myopathy 21 test
Nemaline myopathy 52 tests
Nemaline myopathy 62 tests
Nemaline myopathy 72 tests
Neonatal severe primary hyperparathyroidism1 test
Neurogenic scapuloperoneal syndrome, Kaeser type3 tests
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 111 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
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Non-Hodgkin lymphoma1 test
Non-ketotic hyperglycinemia5 tests
Noonan syndrome 11 test
Noonan syndrome 32 tests
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 62 tests
Noonan syndrome 71 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Obesity1 test
Obesity due to congenital leptin deficiency1 test
Obesity due to leptin receptor gene deficiency1 test
Oculodentodigital dysplasia1 test
Oculodentodigital dysplasia, autosomal recessive1 test
Oculofaciocardiodental syndrome1 test
Oculotrichoanal syndrome1 test
Oligodontia-cancer predisposition syndrome1 test
Opioid dependence, susceptibility to, 11 test
Orofacial cleft 101 test
Orofacial cleft 6, susceptibility to1 test
Orofaciodigital syndrome I1 test
Pancreatic cancer, susceptibility to, 21 test
Pancreatic cancer, susceptibility to, 41 test
Paroxysmal extreme pain disorder2 tests
Paroxysmal familial ventricular fibrillation2 tests
Partial androgen insensitivity syndrome1 test
Partington syndrome2 tests
Pelizaeus-Merzbacher disease1 test
Pheochromocytoma2 tests
PHGDH deficiency1 test
Pick disease1 test
Pierson syndrome1 test
Pitt-Hopkins syndrome1 test
Pitt-Hopkins-like syndrome 21 test
PMM2-congenital disorder of glycosylation1 test
Polyglandular autoimmune syndrome, type 12 tests
Porokeratosis 3, disseminated superficial actinic type1 test
Predisposition to invasive fungal disease due to CARD9 deficiency1 test
Primary dilated cardiomyopathy1 test
Primary erythromelalgia2 tests
Progressive familial heart block, type 1A2 tests
Progressive familial intrahepatic cholestasis type 12 tests
Progressive familial intrahepatic cholestasis type 22 tests
Progressive familial intrahepatic cholestasis type 32 tests
Progressive myoclonic epilepsy type 32 tests
Progressive myoclonic epilepsy type 51 test
Progressive myoclonic epilepsy type 61 test
Progressive supranuclear ophthalmoplegia1 test
Progressive supranuclear palsy-parkinsonism syndrome1 test
Proteasome-associated autoinflammatory syndrome 12 tests
PSAT deficiency2 tests
Purine-nucleoside phosphorylase deficiency1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
Pyridoxal phosphate-responsive seizures3 tests
Pyridoxine-dependent epilepsy3 tests
Pyropoikilocytosis, hereditary1 test
Renal cysts and diabetes syndrome1 test
Renal hypodysplasia/aplasia 11 test
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Renpenning syndrome1 test
Reticular dysgenesis1 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Rett syndrome2 tests
Rett syndrome, congenital variant3 tests
Rh-null, regulator type1 test
Rienhoff syndrome2 tests
Right atrial isomerism1 test
Rippling muscle disease 22 tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked3 tests
Seizures, benign familial infantile, 22 tests
Seizures, benign familial infantile, 34 tests
Seizures, benign familial neonatal, 13 tests
Seizures, benign familial neonatal, 22 tests
Severe combined immunodeficiency due to CORO1A deficiency1 test
Severe combined immunodeficiency due to DCLRE1C deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
Severe myoclonic epilepsy in infancy4 tests
Severe neonatal-onset encephalopathy with microcephaly2 tests
Short QT syndrome type 11 test
Short QT syndrome type 21 test
Short QT syndrome type 31 test
Sick sinus syndrome 12 tests
Sick sinus syndrome 2, autosomal dominant1 test
Sick sinus syndrome 3, susceptibility to2 tests
Simpson-Golabi-Behmel syndrome type 11 test
Simpson-Golabi-Behmel syndrome type 21 test
Somatotroph adenoma1 test
Spastic ataxia 51 test
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 63 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
Sterile multifocal osteomyelitis with periostitis and pustulosis2 tests
Stiff skin syndrome1 test
SUDDEN INFANT DEATH SYNDROME2 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Supravalvar aortic stenosis2 tests
Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
Syndactyly type 31 test
Syndromic multisystem autoimmune disease due to ITCH deficiency1 test
Syndromic X-linked intellectual disability 941 test
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Lubs type2 tests
Syndromic X-linked intellectual disability Najm type1 test
Syndromic X-linked intellectual disability Snyder type1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
Testicular anomalies with or without congenital heart disease1 test
Thrombocythemia 11 test
Thyroid cancer, nonmedullary, 21 test
TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
Tooth agenesis, selective, 11 test
Tooth agenesis, selective, 31 test
Tooth agenesis, selective, 41 test
Tremor, hereditary essential, 41 test
Tricho-dento-osseous syndrome1 test
Trigonocephaly 21 test
Type 1 diabetes mellitus 103 tests
Unverricht-Lundborg syndrome1 test
Usher syndrome type 2C1 test
VACTERL association, X-linked, with or without hydrocephalus1 test
Van der Woude syndrome 11 test
Velocardiofacial syndrome3 tests
Ventricular septal defect 11 test
Ventricular septal defect 31 test
Von Hippel-Lindau syndrome1 test
Weill-Marchesani syndrome 2, dominant1 test
Wilms tumor 11 test
Wiskott-Aldrich syndrome1 test
Wolff-Parkinson-White pattern1 test
Woolly hair-skin fragility syndrome2 tests
X-linked agammaglobulinemia2 tests
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability with marfanoid habitus1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome2 tests
X-linked lissencephaly with abnormal genitalia2 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked lymphoproliferative disease due to XIAP deficiency2 tests
X-linked myopathy with postural muscle atrophy2 tests
X-linked parkinsonism-spasticity syndrome1 test
X-linked scapuloperoneal muscular dystrophy2 tests
X-linked severe combined immunodeficiency2 tests
Yunis-Varon syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Carrier testing
Mutation Confirmation
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies

List of certifications/licenses

Certifications

ISO15189, Number: M001, Expiration date: 2024-12-01

Participation in external programs

Data exchange Programs

Locus-specific Databases
Mutation-specific Databases

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.