Specimen must arrive reference laboratory within 96 hours of collection. Collect blood in a lavender top (EDTA) tube(s), and send 4.0 mL of EDTA whole blood in original VACUTAINER(S). Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature. Preferred minimum: 3.0 mL whole blood Absolute minimum: 0.5 mL whole blood Please call the Clinical Pathology Core Laboratory at 356-3527 for other specimen types.

Useful for: 1) Confirmation of diagnosis of galactosemia 2) Identifying galactosemia carriers in families where there is an affected individual of know genotype 3) Documenting germline mutations 4) Resolution of potential Duarte and Duarte/Los Angeles genotypes 5) Follow-up testing for low or borderline GALT enzyme tests This interpretive report includes an overview of the results and their significance, a correlation to available clinical information, elements of differential diagnosis, and recommendations for additional testing. For diagnostic purposes, results should be interpreted in the context of biochemical results. CAUTIONS: Many disorders may present with symptoms similar to those present in galactosemia. Therefore, biochemical testing is recommended to establish the diagnosis of galactosemia prior to DNA analysis. This panel will be run only when the GALT enzyme level is <18.4 U/g of hemoglobin (GALT reference range = 18.5-28.5 U/g of hemoglobin) or if enzyme testing cannot be performed. Not all individuals with galactosemia demonstrate the mutations included in this panel. The absence of such mutations, therefore, does not eliminate the possibility of the presence of a mutation in another region of the gene.