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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.
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>>
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>>
Please rate our services so we may better serve your needs.
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Mass Spectrometry Laboratory
Glycogen Storage Disease Laboratory