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

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) plasma acceptable. [3/02]
Lavender Top Tube
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
NY State Approved
No