The Biochemical Genetics Laboratory is a regional laboratory thar provides diagnostic and monitoring services for inherited metabolic disorders.
The laboratory is located at McMaster University Medical Centre and includes faculty certified in biochemical genetics by the Canadian College of Medical Geneticists.
The laboratory provides routine metabolic testing/monitoring including organic acid, amino acid, and acylcarnitine analysis. It also provides specialized testing for cholesterol biogenesis, peroxisomal, purine and pyrimidine disorders. Most methodologies utilize chromatography and/or mass spectrometry.