Biochemical Genetics Laboratory

Personnel

Director: Sydney Strickland, PhD, Lab Director
Phone: 1-800-345-GENE
Director: Jean-Leon Chong, PhD, Lab Director
Phone: 800-345-GENE
Director: Na Lin, PhD, Lab Director
Phone: 800-345-GENE
Director: Ester Perales Clemente, PhD, Lab Director
Phone: 800-345-GENE

Conditions and tests

23 conditions/phenotypes with 17 tests
Enter text to narrow down the list

Abnormality of mitochondrial metabolism1 test
Argininosuccinate lyase deficiency1 test
Biotinidase deficiency1 test
Carnitine deficiency, myopathic1 test
Citrullinemia type I1 test
Disorder of amino acid metabolism4 tests
Disorder of fatty acid metabolism2 tests
Disorder of organic acid metabolism3 tests
Disorder of the urea cycle metabolism3 tests
Fabry disease1 test
Hyperdibasic aminoaciduria type 11 test
Hyperphenylalaninemia1 test
Lysosomal acid lipase deficiency1 test
Maple syrup urine disease1 test
Metachromatic leukodystrophy1 test
Mucolipidosis type II1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Non-ketotic hyperglycinemia2 tests
Ornithine carbamoyltransferase deficiency1 test
Phenylketonuria1 test
Renal carnitine transport defect1 test
Sandhoff disease1 test
Tay-Sachs disease2 tests

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Carrier testing
Genetic counseling
Insurance billing
Result interpretation

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: 34D0655205, Expiration date: 2025-02-08
CAP, Number: 3710101, Expiration date: 2024-05-24
ISO15189, Number: 3710101, Expiration date: 2022-11-07

Licenses

CA - California Department of Public Health CDPH, Number: CDS00800068, Expiration date: 2023-01-14
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 559, Effective date: 2018-07-01 Non-expiring
NY - New York State Department of Health NYSDOH, Number: 4180, Expiration date: 2024-06-30
PA - Pennsylvania Department of Health PADOH, Number: 31983, Expiration date: 2022-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00269, Expiration date: 2023-12-30

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.