U.S. flag

An official website of the United States government

GTR Home > Laboratories > Clinical Genomics Laboratory

Clinical Genomics Laboratory

GTR Lab ID: 505219, Last updated:2024-01-05
Annual Review past due read more

Personnel

Conditions and tests

  • 3-Methylglutaconic aciduria type 21 test
  • 3-methylglutaconic aciduria, type VIIB1 test
  • Acrokeratosis verruciformis of Hopf1 test
  • Acute myeloid leukemia1 test
  • Alport syndrome2 tests
  • Angioosteohypertrophic syndrome2 tests
  • Arrhythmogenic right ventricular cardiomyopathy3 tests
  • Atypical hemolytic-uremic syndrome1 test
  • Autoimmune lymphoproliferative syndrome1 test
  • Autoimmune lymphoproliferative syndrome, type 1a1 test
  • Autoinflammation, immune dysregulation, and eosinophilia2 tests
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant polycystic kidney disease1 test
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive keratitis-ichthyosis-deafness syndrome1 test
  • Autosomal recessive polycystic kidney disease1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Baraitser-Winter syndrome2 tests
  • Basal cell nevus syndrome 21 test
  • Becker nevus syndrome1 test
  • Beckwith-Wiedemann syndrome1 test
  • Bone marrow failure syndrome 31 test
  • Branchiootorenal Spectrum Disorders1 test
  • Brugada syndrome3 tests
  • Capillary malformation1 test
  • Capillary malformation-arteriovenous malformation 21 test
  • Cardiac arrhythmia5 tests
  • Cardioacrofacial dysplasia1 test
  • Cardioacrofacial dysplasia 11 test
  • Cardioacrofacial dysplasia 21 test
  • Cardiomyopathy1 test
  • Cardiomyopathy, hypertrophic, midventricular, digenic3 tests
  • Catecholaminergic polymorphic ventricular tachycardia 13 tests
  • Cerebral arteriovenous malformation1 test
  • Cerebral cavernous malformation2 tests
  • Charcot-Marie-Tooth disease1 test
  • Chondrodysplasia punctata1 test
  • Ch├ędiak-Higashi syndrome1 test
  • CLOVES syndrome2 tests
  • Coenzyme Q10 deficiency1 test
  • Coenzyme Q10 deficiency, primary, 31 test
  • Cohen syndrome1 test
  • Combined immunodeficiency due to GINS1 deficiency1 test
  • Complex cortical dysplasia with other brain malformations2 tests
  • Complex cortical dysplasia with other brain malformations 22 tests
  • Complex cortical dysplasia with other brain malformations 71 test
  • Complex neurodevelopmental disorder with or without congenital anomalies1 test
  • Complex vascular malformation with associated anomalies1 test
  • Congenital disorder of glycosylation1 test
  • Congenital hemangioma1 test
  • Congenital ichthyosis of skin1 test
  • Congenital neutropenia1 test
  • Cowden syndrome1 test
  • Curry-Jones syndrome3 tests
  • Cyclical neutropenia1 test
  • Developmental and epileptic encephalopathy 1111 test
  • Developmental and epileptic encephalopathy 6B1 test
  • Developmental and epileptic encephalopathy, 111 test
  • Developmental and epileptic encephalopathy, 191 test
  • Developmental and epileptic encephalopathy, 22 tests
  • Developmental and epileptic encephalopathy, 272 tests
  • Developmental and epileptic encephalopathy, 72 tests
  • Developmental and epileptic encephalopathy, 741 test
  • Developmental and epileptic encephalopathy, 781 test
  • Developmental and epileptic encephalopathy, 92 tests
  • Diabetes mellitus5 tests
  • Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies1 test
  • Encephalocraniocutaneous lipomatosis1 test
  • Enchondromatosis1 test
  • Epidermal nevus2 tests
  • Epilepsy1 test
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 31 test
  • Familial aplasia of the vermis1 test
  • Familial benign pemphigus1 test
  • Familial focal epilepsy with variable foci1 test
  • Familial hyperinsulinism1 test
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
  • Focal segmental glomerulosclerosis2 tests
  • Glomuvenous malformation1 test
  • Glycogen storage disease, type I1 test
  • Griscelli syndrome type 21 test
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • Hemangiomatosis, cutaneous, with associated features1 test
  • Hemimegalencephaly2 tests
  • Hemolytic anemia due to adenylate kinase deficiency1 test
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hennekam lymphangiectasia-lymphedema syndrome 21 test
  • Hereditary hemorrhagic telangiectasia1 test
  • Hermansky-Pudlak syndrome 21 test
  • Heterotopia, periventricular, X-linked dominant1 test
  • Hyper-IgM syndrome type 11 test
  • Hypereosinophilic syndrome1 test
  • Hyperinsulinemic hypoglycemia1 test
  • Hypertrophic cardiomyopathy1 test
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy2 tests
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Ichthyosis1 test
  • Immunodeficiency 141 test
  • Immunodeficiency 231 test
  • Immunodeficiency 362 tests
  • Immunodeficiency 671 test
  • Immunodeficiency 98 with autoinflammation, X-linked1 test
  • Infantile myofibromatosis1 test
  • Isolated focal cortical dysplasia type II2 tests
  • Left ventricular noncompaction2 tests
  • Linear nevus sebaceous syndrome2 tests
  • Lissencephaly2 tests
  • Long QT syndrome3 tests
  • Lymphatic malformation1 test
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Maffucci syndrome2 tests
  • Marfan syndrome1 test
  • McCune-Albright syndrome1 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome3 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
  • Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome1 test
  • Melanocytic nevus1 test
  • Melorheostosis1 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
  • Microcephaly-capillary malformation syndrome1 test
  • Multiple cutaneous and mucosal venous malformations1 test
  • Myelodysplastic syndrome1 test
  • Myofibromatosis1 test
  • Nephronophthisis1 test
  • Nephrotic syndrome1 test
  • Neurodevelopmental disorder1 test
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination2 tests
  • Neurofibromatosis1 test
  • Neutrophil immunodeficiency syndrome1 test
  • Nevus comedonicus syndrome1 test
  • Noonan syndrome2 tests
  • Overgrowth syndrome1 test
  • Parkes Weber syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive2 tests
  • Periventricular nodular heterotopia1 test
  • Pierson syndrome1 test
  • Pityriasis rubra pilaris1 test
  • Poikiloderma with neutropenia1 test
  • Polycystic kidney disease1 test
  • Porokeratosis1 test
  • Primary dilated cardiomyopathy3 tests
  • Primary lymphedema1 test
  • Proteus syndrome2 tests
  • PTEN hamartoma tumor syndrome1 test
  • Pyogenic bacterial infections due to MyD88 deficiency1 test
  • Pyogenic granuloma1 test
  • RASopathy2 tests
  • Renal cysts and diabetes syndrome1 test
  • Renal dysplasia and retinal aplasia1 test
  • Renal hypoplasia1 test
  • Renal tubular dysgenesis1 test
  • Renal-hepatic-pancreatic dysplasia1 test
  • Segmental overgrowth1 test
  • Severe congenital neutropenia1 test
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • Short QT syndrome2 tests
  • Shwachman syndrome1 test
  • Spindle cell hemangioma1 test
  • Sturge-Weber syndrome1 test
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Thrombotic microangiopathy1 test
  • Transcobalamin II deficiency1 test
  • Tuberous sclerosis syndrome2 tests
  • Tubulointerstitial kidney disease, autosomal dominant, 21 test
  • Usher syndrome type 2A1 test
  • Van Maldergem syndrome1 test
  • Vascular anomaly1 test
  • Verrucous venous malformation1 test
  • VEXAS syndrome2 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
  • WDR1 deficiency1 test
  • Wiskott-Aldrich syndrome1 test
  • Wolcott-Rallison dysplasia1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Next generation seqeuncing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 26D0698285, Expiration date: 2025-06-13
  • CAP, Number: 2755603, Expiration date: 2025-10-02

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS 00800497, Expiration date: 2024-04-25
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 3848
  • PA - Pennsylvania Department of Health PADOH, Number: 034385, Expiration date: 2024-08-15

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.