Biochemical Genetics Laboratory
Metabolite and Enzyme Assays
Approximately one thousand inborn errors of metabolism (IEM) are known to cause complex disease manifestations at all stages of a patient’s life. Patients with IEM are routinely found under the care of many different specialists, and the clinical approach to classic syndromes and diseases is drastically altered by the discovery of an underlying metabolic defect. IEM are rapidly dispelling the long held stereotype of being rare encounters in clinical practice. This trend is particularly evident in pediatric practice where a constantly growing proportion of admissions in tertiary care centers are related to IEM.
Most metabolic disorders are first recognized by the detection of characteristic markers in biological fluids and tissues. The laboratory discipline that covers the biochemical diagnosis of IEM is known as 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. The Biochemical Genetics Laboratory differs from the clinical chemistry laboratory in the extent of interpretation that is necessary to make results meaningful to the clinician.
At Mayo, the Biochemical Genetics Laboratory (BGL) is an interdisciplinary group of laboratorians, geneticists, and physicians working in a state of the art environment. The mission of BGL is 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. These goals are accomplished by performing qualitative and quantitative determination of a large, and constantly growing, number of diagnostic markers by application of manual, automated, and chromatographic methods including HPLC, GC/MS and MS/MS.