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.
