Galactose-1-Phosphate Uridyltransferase (GALT Enzyme), RBC

Casandra

Casandra Test Code AR82163Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001790CPT Code 82775

Galactose-1-Phosphate Uridyltransferase (GALT Enzyme), RBC

Also known as: GALT ENZ

Clinical Use

Order Test

Use

This test is primarily used for the initial diagnosis or to rule out galactosemia. It measures the activity of the Galactose-1-Phosphate Uridyltransferase enzyme in red blood cells to assess for conditions like classic galactosemia, Duarte galactosemia, and carrier states. The results provide critical information necessary for genetic and metabolic evaluations, especially in the context of assessing enzyme deficiency levels appropriate for different genotypes.

Special Instructions

For accurate testing, it is important to collect the blood sample on ice and ensure a timely transport of the specimen while maintaining refrigeration. Patient history forms for Galactosemia Testing should be submitted along with the order.

Limitations

While enzyme activity measurements are useful in diagnosing classic galactosemia and other variants, they may not differentiate all carrier forms or the variants effectively. For comprehensive assessment or suspicion of galactosemia, ordering the Galactosemia (GALT) Enzyme Activity and 9 Mutations test is encouraged. Additionally, for monitoring therapy in galactosemia patients, ordering Galactose-1-Phosphate in Red Blood Cells is recommended.

Test Details

New York Approved