Genetic disorders have become a focal point in laboratory medicine. Approximately one thousand inborn errors of metabolism (IEM) have been identified to date primarily through the detection of endogenous metabolites abnormally accumulated in biological fluids and tissues. The laboratory discipline that covers the biochemical diagnosis of IEM is Clinical Biochemical Genetics, and is defined as one concerned with the evaluation and diagnosis of patients and families with inherited metabolic disease, monitoring of treatment, and distinguishing heterozygous carriers from non-carriers by metabolite and enzymatic analysis of physiological fluids and tissues.
A biochemical genetics laboratory differs from the clinical chemistry laboratory in the extent of interpretation that is necessary to make its results meaningful to the clinician. Testing for hereditary metabolic disorders has developed from a highly specialized and fragmented activity, provided mostly by research-oriented scientists, to a critical component at the forefront of the laboratory work-up of patients of all ages. The Biochemical Genetics Laboratory at Mayo Clinic is an interdisciplinary group of laboratorians, geneticists and physicians with a mission to provide biochemical testing and result interpretation of the highest quality for the diagnosis, study and clinical care of patients with inborn errors of metabolism, malabsorption and malnutrition disorders. We routinely perform qualitative detection and quantitative determination of diagnostic markers based on a variety of manual, automated, and chromatographic methods including HPLC, GCMS, and MSMS.