Medical Genetics



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Biochemical Genetics Laboratory

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.

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.

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