Devin Oglesbee, Ph.D., Director of the Biochemical and Molecular Genetics Laboratories at Mayo Clinic, provides an overview of the lysosomal storage disease panel, when it is appropriate to order this test, what actions the results allow you to take, and how this test improves upon previous approaches.
Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs.
In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.