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.

Shipping Instructions

Pre-analytical processing is performed Monday through Friday and Sunday. This test may be canceled if specimens are outside of stability when processing occurs. Collect and package specimens for arrival on days when processing is performed.

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