The Biochemistry Laboratory analyzes amino acid and organic acid levels for the diagnosis and monitoring of patients with inborn errors of intermediary metabolism. It also performs enzyme assays to comprehensively diagnose a variety of metabolic disorders, such as galactosemia and many lysosomal storage disorders.
Amino Acid Analysis & Organic Acid Analysis Amino acid analysis (blood, urine, CSF) and organic acid analysis (urine) are performed using state-of-the-art methodology and instrumentation. Enzyme Assays Enzyme assays for lysosomal storage diseases, galactosemia, galactokinase and other disorders are performed on peripheral blood leukocytes and cultured skin fibroblasts. We request that physicians check with the laboratory before requesting one of the analyses, in order to determine the type of specimen and quantity needed. Some of the tests must be scheduled in advance, and specimens cannot be collected on weekends or holidays. Tay-Sachs Carrier Testing Tay-Sachs carrier testing is performed on serum and peripheral blood leukocytes from adults (especially those with Ashkenazi Jewish ancestry) to determine if they carry the Tay-Sachs disease gene. Miscellaneous Tests Miscellaneous tests, including sugar chromatography, sialic acid quantitation and sulfites are available.