Metabolic Laboratory
The mission of the Section of Medical Genetics Metabolic Screening Laboratory is to diagnose, prevent and—where possible—provide treatment options for genetic diseases with a metabolic basis. Metabolic screening involves an analysis of urine and serum amino acids, organic acids and carbohydrates (including glycosaminoglycans and oligosaccharides) for patterns that may indicate a variety of possible inborn errors of metabolism. Please see our pamphlet and the PennGen Web site for further details about the testing offered through the metabolic screening lab.