Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
The diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia.
> or =24.5 nmol/h/mg of hemoglobin
This assay is not useful for monitoring dietary compliance. This assay will not detect galactokinase deficiency or uridine diphosphate galactose 4-epimerase deficiency.
- GALT (Galactose-1-Phosphate Uridyltransferase)
Collect blood in a lavender top tube. Refrigerate and send intact whole blood specimen; do not freeze. Green top (sodium heparin) or yellow top (ACD) tube also acceptable.
Test sent to Mayo Medical Laboratories.