Overview

Biochemical genetic methods are typically utilized to study the large and varied group of genetic conditions known as inherited metabolic disorders. These methods include (1) identification and measurement of small molecules in biological samples that are substrates or products of metabolic enzymes, and (2) direct, in vitro assay of enzyme activities, usually in cultured cells.

The UAB Biochemical Genetics Laboratory utilizes state-of-the-art instrumental methods to diagnose and monitor patients with inherited metabolic diseases, including disorders of amino and organic acid metabolism as well as fatty acid oxidation.

The laboratory is accredited according to the guidelines set forth by the Clinical Laboratory Improvement Act (CLIA #01D1043216) and by the Alabama State Department of Public Health.

Menu of tests (pdf)

Laboratory hours

Monday–Friday, 8:30 a.m.–5:30 p.m.

Emergency testing is available for all services upon request (TAT < 6 hrs from sample receipt). To arrange for this service during normal business hours, please contact the laboratory (205-996-4992) or the UAB Genetics clinic. After hours, please contact the UAB Genetics on-call physician.

Contact

Mailing address for laboratory samples:

UAB Biochemical Genetics Laboratory
720 20th Street South, Kaul 642
Birmingham, Alabama 35294-0024
Attention: John Moore, (205) 996-4992

Phone:
(205) 996-4992

Fax:
(205) 975-2742

Staff

Laboratory Director: J. Daniel Sharer, Ph.D., FACMG
Medical Director: S. Lane Rutledge, M.D., FACMG
Laboratory Manager: John Moore
Research Associate: Junxuan Zhang
Research Assistant: Yang Yan

Forms

Requisition form (pdf)

Specimen collection and transportation policies

General specimen collection and transportation policies (pdf)