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
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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.