Adult Preferred Minimum: 5.0 mL whole blood from 6 mL pink top (K2 EDTA) tube. Collect specimen from a fasting patient. Adult/Pediatric Absolute minimum: 2.0 mL whole blood from 6 mL pink top (K2 EDTA) tube. Collect specimen from a fasting patient.

This assay is useful for determining the likely genotype when quantitative galactose-1-phosphate uridyltransferase (GALT) data suggests a GG or DG genotype (a patient with a GG genotype must be on a galactose-free diet). Useful for: 1) Determining the exact biochemical phenotype when quantitative GALT (galactose-1-phosphate uridyltransferase (GALT) deficiency suggests a GG or DG phenotype 2) A quantitative GALT level is used in addition to the isoelectric focusing for accurate interpretation 3) Determining biochemical phenotypes of siblings, when parental specimens are co-run for both quantitative and isoelectric focusing banding data There are a variety of biochemical phenotypes in galactosemia and quantitative data is only suggestive of the phenotype for a particular individual. An interpretive report is provided. CAUTIONS: The phenotype of a neonate can be arrived at with greater confidence when the parents' phenotypes are also established. Since transfusion results in replacement of significant number of red cells, the assay should be deferred for 90 days post-transfusion.