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Galactose 1 Phosphate Uridyltransferase (GPUT), Blood

Galactose-1-Phosphate Uridyltransferase

Test Codes

EPIC: LAB6035, Beaker: XGPUT, Mayo: GALT

Department

Send Outs

Specimen Collection Criteria

Collect (preferred speicmen): One Lavender-top EDTA tube.
Also acceptable: One Dark Green-top Sodium Heparin or Yellow-top ACD tube.

Physician Office/Draw Specimen Preparation

Do not centrifuge or freeze. Maintain whole blood refrigerated (2-8°C or 36-46°F) prior to transport.

Preparation for Courier Transport

Transport: 5.0 mL whole blood, refrigerated (2-8°C or 36-46°F). (Minimum: 2.0 mL)

Rejection Criteria

• Grossly hemolyzed specimens.
• Specimens not collected and processed as indicated.

In-Lab Processing

Do not centrifuge or freeze. Maintain whole blood refrigerated (2-8°C or 36-46°F) prior to transport.

Transport: 5.0 mL whole blood, refrigerated (2-8°C or 36-46°F). (Minimum: 2.0 mL)

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 14 days
Refrigerated (2-8°C or 36-46°F): 28 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Mayo Medical Laboratories, Rochester, MN

Performed

Monday, Wednesday, Friday.
Results available in 5-9 days.

Reference Range

By report.

Test Methodology

Enzyme reaction followed by Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS).

Interpretation

By report.

Clinical Utility

This assay is a quantitative measurement of the enzyme Galactose-1-Phosphate Uridyltransferase (GPUT) and provides an approximation of the patient's genotype. A deficiency of this enzyme is the most common cause of galactosemia. A galactokinase deficiency is the second most common cause of galactosemia. Those patients with GPUT values of 10.0 U/g hemoglobin or less should be definitively characterized by genotyping. This assay is not useful for diet monitoring of galactosemics.

CPT Codes

82775

Contacts

Last Updated

10/2/2023