Ordering Guidance

The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood.

For monitoring of dietary compliance, order GAL1P / Galactose-1-Phosphate, Erythrocytes.

Necessary Information

Patient's age is required.

A quantitative galactose-1-phosphate uridyltransferase level (GALT / Galactose-1-Phosphate Uridyltransferase, Blood) is required for accurate interpretation.

Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.

Specimen Required

Multiple whole blood tests for galactosemia can be performed on 1 specimen. Prioritize order of testing when submitting specimens. For a list of tests that can be ordered together see Galactosemia-Related Test List.

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL