Division of Medical Genetics

Biochemical Genetics Laboratory Services

The Duke Biochemical Genetics Laboratory is located in an off-campus facility in south Durham and is comprised of two closely integrated laboratories, the Mass Spectrometry Laboratory and the Glycogen Storage Disease Laboratory.

The laboratory is certified by the College of American Pathologists (CAP) and CLIA and is staffed by highly trained, licensed professionals and laboratory personnel. The latest advances in diagnostic technologies are utilized to provide physicians with an extensive menu of biochemical, enzyme and molecular tests. The laboratories work closely with the Division's board-certified medical geneticists and genetic counselors to ensure timely interpretation of laboratory results for health care professionals and their patients.

Mass Spectrometry Laboratory

The Mass Spectrometry Laboratory offers a wide range of assays for diagnosis and monitoring of inborn errors of metabolism including acylcarnitine profile, carnitine level, organic acids, amino acids, creatine and guanidinoacetate levels, S-sulfocysteine, fatty acid in vitro probe, and Hex4 analysis. The laboratory also offers DNA analysis for fatty acid oxidation disorders. More>>

Glycogen Storage Disease Laboratory

The Glycogen Storage Disease (GSD) Laboratory specializes in the enzymatic and molecular diagnosis of glycogen storage disorders, disorders of fructose metabolism, and lysosomal storage diseases. More>>