Test Overview
Test Methodology
Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Test Usage
The diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia.
Reference Range *
> or =24.5 nmol/h/mg of hemoglobin
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Test Limitations
This assay is not useful for monitoring dietary compliance. This assay will not detect galactokinase deficiency or uridine diphosphate galactose 4-epimerase deficiency.
Test Details
Days Set Up
Monday, Wednesday, Friday
Analytic Time
4 days
Soft Order Code
GALT
Synonyms
- G-1-PU
- GPUT
- G-1-PU
- GPUT
- GALT (Galactose-1-Phosphate Uridyltransferase)
Laboratory
Sendout
Reference Laboratory
Mayo GALT (8333)
Section
Special Testing
Specimen Requirements
Collection Instructions
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.
Alternate Specimen
Heparinized (green top) or ACD (yellow top) tubes are also acceptable. [3/02]
Normal Volume
5 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood
Additional Information
Test sent to Mayo Medical Laboratories.
Billing
CPT Code
82775
Fee Code
20053