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GTR Home > Laboratories > Molecular Diagnostic Laboratory

Molecular Diagnostic Laboratory

GTR Lab ID: 1173, Last updated:2024-08-01

Personnel

  • Director: Melissa Hayden, PhD, FACMG, Lab Director
  • Director: Yanjun Jiang, PhD, FACMG, Lab Director
  • Director: Joseph Kearney, PhD, FACMG, Lab Director
  • Director: Binu Porath, PhD, FACMG, Lab Director
  • Director: Toni Prezant, PhD, FACMG, Lab Director
  • Director: W. Christine Spence, PhD, FACMG, Lab Director
  • Director: Jane Thuo, PhD, FACMG, Lab Director
  • Genetic Service, Genetic Counselor
    Phone: 800-345-4363
    Email: AskCMBPGenetics@labcorp.com

Conditions and tests

  • Adrenocortical carcinoma, hereditary1 test
  • alpha Thalassemia1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Angelman syndrome1 test
  • Ataxia-telangiectasia-like disorder2 tests
  • Ataxia-telangiectasia-like disorder 11 test
  • Autosomal recessive nonsyndromic hearing loss 1A2 tests
  • beta Thalassemia5 tests
  • Birt-Hogg-Dube syndrome2 tests
  • Bloom syndrome2 tests
  • Breast cancer, early-onset2 tests
  • Breast cancer, susceptibility to7 tests
  • Breast-ovarian cancer, familial, susceptibility to, 18 tests
  • Breast-ovarian cancer, familial, susceptibility to, 210 tests
  • Breast-ovarian cancer, familial, susceptibility to, 34 tests
  • Breast-ovarian cancer, familial, susceptibility to, 45 tests
  • Carney complex2 tests
  • Carney complex, type 12 tests
  • Carney-Stratakis syndrome2 tests
  • Colorectal / endometrial cancer1 test
  • Colorectal cancer, hereditary nonpolyposis, type 27 tests
  • Colorectal cancer, susceptibility to, 102 tests
  • Colorectal cancer, susceptibility to, 122 tests
  • Common variable immunodeficiency2 tests
  • Cowden syndrome2 tests
  • Cowden syndrome 12 tests
  • Cowden syndrome 32 tests
  • Cystic fibrosis3 tests
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Fabry disease2 tests
  • Familial adenomatous polyposis 12 tests
  • Familial adenomatous polyposis 28 tests
  • Familial cancer of breast10 tests
  • Familial multiple polyposis syndrome6 tests
  • Familial primary hyperparathyroidism1 test
  • Familial prostate cancer1 test
  • Fanconi anemia complementation group C2 tests
  • Fragile X syndrome3 tests
  • Fragile X-associated tremor/ataxia syndrome1 test
  • Generalized juvenile polyposis/juvenile polyposis coli1 test
  • Gorlin syndrome2 tests
  • Granulomatous disease, chronic, X-linked2 tests
  • Hemochromatosis type 11 test
  • Hereditary breast ovarian cancer syndrome2 tests
  • Hereditary diffuse gastric adenocarcinoma7 tests
  • Hereditary leiomyomatosis and renal cell cancer2 tests
  • Hereditary nonpolyposis colon cancer13 tests
  • Hereditary pancreatitis5 tests
  • Hirschsprung disease-ganglioneuroblastoma syndrome1 test
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
  • Hyper-IgM syndrome type 12 tests
  • Hyper-IgM syndrome type 22 tests
  • Hyper-IgM syndrome type 32 tests
  • Hyperhomocysteinemia1 test
  • Hyperparathyroidism 2 with jaw tumors1 test
  • Immunodeficiency 1046 tests
  • Interferon gamma receptor deficiency5 tests
  • Juvenile polyposis syndrome2 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
  • Leukemia, acute lymphoblastic, susceptibility to1 test
  • Li-Fraumeni syndrome12 tests
  • Li-Fraumeni syndrome 23 tests
  • Lynch syndrome4 tests
  • Lynch syndrome 17 tests
  • Lynch syndrome 47 tests
  • Lynch syndrome 57 tests
  • Lynch syndrome 86 tests
  • Medulloblastoma1 test
  • Melanoma, cutaneous malignant, susceptibility to, 23 tests
  • Melanoma, cutaneous malignant, susceptibility to, 33 tests
  • Melanoma, cutaneous malignant, susceptibility to, 82 tests
  • Melanoma-pancreatic cancer syndrome2 tests
  • Microcephaly, normal intelligence and immunodeficiency5 tests
  • Muir-TorrĂ© syndrome1 test
  • Multiple endocrine neoplasia type 2A1 test
  • Multiple endocrine neoplasia, type 14 tests
  • Multiple endocrine neoplasia, type 22 tests
  • Neuroblastoma, susceptibility to, 21 test
  • Neuroblastoma, susceptibility to, 32 tests
  • Neurofibromatosis, type 15 tests
  • Neurofibromatosis, type 22 tests
  • Nijmegen breakage syndrome-like disorder3 tests
  • Oligodontia-cancer predisposition syndrome2 tests
  • Osteosarcoma1 test
  • Pancreatic Cancer Susceptibility 42 tests
  • Pancreatic cancer, susceptibility to, 25 tests
  • Pancreatic cancer, susceptibility to, 31 test
  • Pancreatic cancer, susceptibility to, 43 tests
  • Papillary renal cell carcinoma type 11 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paragangliomas with sensorineural hearing loss1 test
  • Peutz-Jeghers syndrome8 tests
  • Pheochromocytoma2 tests
  • Polyglandular autoimmune syndrome, type 12 tests
  • Polyposis syndrome, hereditary mixed, 21 test
  • Premature ovarian failure 11 test
  • Prostate cancer susceptibility1 test
  • Prostate cancer, hereditary, 91 test
  • PTEN hamartoma tumor syndrome9 tests
  • Renal cell carcinoma1 test
  • Retinoblastoma2 tests
  • Rett syndrome3 tests
  • Rhabdoid tumor predisposition syndrome 12 tests
  • Severe combined immunodeficiency disease6 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency2 tests
  • 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-positive5 tests
  • Simpson-Golabi-Behmel syndrome1 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency2 tests
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to thrombin defect1 test
  • Tuberous sclerosis 12 tests
  • Tuberous sclerosis 22 tests
  • Uniparental disomy of 71 test
  • Uniparental disomy of chromosome 61 test
  • Venous thrombosis, susceptibility to1 test
  • Von Hippel-Lindau syndrome9 tests
  • Wilms tumor 12 tests
  • Wiskott-Aldrich syndrome2 tests
  • X-linked agammaglobulinemia2 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency2 tests
  • X-linked severe combined immunodeficiency2 tests
  • Y chromosome deletions1 test
  • ZAP70-Related Severe Combined Immunodeficiency2 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Maternal cell contamination study (MCC)
  • Uniparental Disomy (UPD) Testing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 34D0655205, Expiration date: 2025-02-08
  • CAP, Number: 3710101, Expiration date: 2026-05-24
  • ISO15189, Number: 3710101, Expiration date: 2025-11-07

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS00800068, Expiration date: 2025-01-14
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: DHMH559, Effective date: 2018-07-01 Non-expiring
  • NY - New York State Department of Health NYSDOH, Number: PFI 4180, Expiration date: 2025-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 31983, Expiration date: 2024-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00269, Expiration date: 2024-12-30

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.