Biochemical Genetics

Established in 1962, the biochemical genetics laboratory specializes in the diagnosis of inborn errors of metabolism (IEM) using both classical biochemical methods and advanced analytic techniques including ultra high performance liquid chromatography (UPLC), gas chromatograph-mass spectrometry (GC-MS), and tandem mass spectrometry (TMS).

The Directors of the laboratory are world-renowned experts in the diagnosis and treatment of inborn errors of metabolism. They are available for consultation on testing options as well as diagnostic interpretations. Our diagnostic repertoire includes testing for the following classes of disorders:

  • Amino acidopathies
  • Organic acidurias
  • Fatty acid oxidation disorders
  • Lysosomal storage disorders
  • Peroxisomal disorders
  • Disorders of ketolysis