GeneID Lab - Advanced Molecular Diagnostics

Personnel

Director: Daniel Cohen, MD, Lab Director

Conditions and tests

147 conditions/phenotypes with 6 tests
Enter text to narrow down the list

Acute lymphoid leukemia1 test
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
alpha Thalassemia1 test
Amyotrophic lateral sclerosis type 81 test
Aneurysm-osteoarthritis syndrome1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aplastic anemia2 tests
Arterial tortuosity syndrome1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Baller-Gerold syndrome1 test
Bannayan-Riley-Ruvalcaba syndrome2 tests
BAP1-related tumor predisposition syndrome2 tests
Basal cell carcinoma, somatic1 test
beta Thalassemia1 test
Bloom syndrome1 test
Breast and colorectal cancer, susceptibility to3 tests
Breast lobular carcinoma2 tests
Breast-ovarian cancer, familial, susceptibility to, 14 tests
Breast-ovarian cancer, familial, susceptibility to, 23 tests
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Bronchiectasis with or without elevated sweat chloride 11 test
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Canavan Disease, Familial Form1 test
Carcinoma of colon1 test
Carcinoma of pancreas1 test
Colorectal cancer, hereditary nonpolyposis, type 24 tests
Colorectal cancer, susceptibility to2 tests
Colorectal cancer, susceptibility to, 102 tests
Colorectal cancer, susceptibility to, 122 tests
Cowden syndrome 12 tests
Cystic fibrosis1 test
Decreased activity of the pyruvate dehydrogenase complex1 test
Ehlers-Danlos syndrome, type 41 test
Endometrial carcinoma1 test
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 22 tests
Familial cancer of breast2 tests
Familial colorectal cancer3 tests
Familial dysautonomia1 test
Familial melanoma2 tests
Familial pancreatic carcinoma1 test
Familial thoracic aortic aneurysm and aortic dissection1 test
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group F1 test
Fanconi anemia complementation group G1 test
Fanconi anemia complementation group O2 tests
Fragile X syndrome1 test
Galactosemia1 test
Gaucher disease1 test
Generalized juvenile polyposis/juvenile polyposis coli2 tests
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Gorlin syndrome1 test
Hb SS disease1 test
Hereditary breast ovarian cancer syndrome4 tests
Hereditary cancer-predisposing syndrome4 tests
Hereditary diffuse gastric adenocarcinoma2 tests
Hereditary nonpolyposis colon cancer1 test
Infantile-onset X-linked spinal muscular atrophy1 test
Isolated hyperchlorhidrosis1 test
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Juvenile Polyposis1 test
Leukemia, acute lymphoblastic, susceptibility to1 test
Li-Fraumeni syndrome 13 tests
Li-Fraumeni syndrome 23 tests
Liddle syndrome 11 test
Liddle syndrome 21 test
Liddle syndrome 31 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Long QT syndrome 11 test
Long QT syndrome 111 test
Long QT syndrome 31 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Lung adenocarcinoma1 test
Lymphoma, non-Hodgkin, familial1 test
Lynch syndrome2 tests
Lynch syndrome 14 tests
Lynch syndrome 44 tests
Lynch syndrome 54 tests
Lynch syndrome 83 tests
Malignant melanoma of skin1 test
Malignant tumor of breast1 test
Malignant tumor of prostate1 test
Maple syrup urine disease type 1A1 test
Maple syrup urine disease type 1B1 test
Maple syrup urine disease type 21 test
Marfan syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 22 tests
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma-pancreatic cancer syndrome2 tests
Mismatch repair cancer syndrome 14 tests
Mucolipidosis type IV1 test
Muir-Torré syndrome2 tests
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple myeloma1 test
Neoplasm2 tests
Neoplasm of the large intestine1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Nijmegen breakage syndrome-like disorder1 test
Non-Hodgkin lymphoma2 tests
Ornithine carbamoyltransferase deficiency1 test
Pancreatic cancer, susceptibility to, 21 test
Pancreatic cancer, susceptibility to, 32 tests
Pancreatic cancer, susceptibility to, 42 tests
Papillary renal cell carcinoma type 12 tests
Pendred syndrome1 test
Peutz-Jeghers syndrome2 tests
Phenylketonuria1 test
Pheochromocytoma1 test
Polyposis syndrome, hereditary mixed, 11 test
Prostate cancer susceptibility2 tests
Prostate cancer, hereditary, 22 tests
Proteus syndrome2 tests
Proteus-like syndrome2 tests
Pseudohypoaldosteronism, type IB1, autosomal recessive1 test
PTEN hamartoma tumor syndrome2 tests
Pyruvate dehydrogenase E3 deficiency1 test
Rapadilino syndrome1 test
Renal cell carcinoma1 test
Rothmund-Thomson syndrome1 test
Spinal muscular atrophy1 test
Tay-Sachs disease1 test
Usher syndrome type 11 test
Usher syndrome type 1B1 test
Usher syndrome type 1C1 test
Usher syndrome type 1D1 test
Usher syndrome type 1F1 test
Usher syndrome type 2A1 test
Usher Syndrome, Type 1A1 test
Werdnig-Hoffmann disease1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Carrier testing
Whole Exome Sequencing

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: 31D2053667, Expiration date: 2024-07-22
CAP, Number: 8739211, Expiration date: 2026-03-13

Licenses

CA - California Department of Public Health CDPH, Number: CDS00800425, Expiration date: 2024-10-03
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1985, Effective date: 2018-07-01 Non-expiring
NJ - State of New jersey Department of Health and Senior Service, Number: 00062756, Expiration date: 2024-12-31
RI - State of Rhode Island Department of Health RIDOH, Number: LCO01253, Expiration date: 2024-12-30

Participation in external programs

Data exchange Programs

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.