Clinics and Departments

Laboratory Services

Lab Dept:

Chemistry

Test Name:

GALACTOSE–1–PHOSPHATE URIDYLTRANSFERASE

General Information

Lab Order Codes:

G1PH

Synonyms:

GPUT; GALT

CPT Codes:

82775 – Galactose-1-phosphate uridyl transferase; quantitative

Test Includes:

Galactose-1-phosphate uridyl transferase level reported as nmol/h/mg of hemoglobin.

Logistics

Test Indications:

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia. Confirmation of abnormal state newborn screening results.

Lab Testing Sections:

Chemistry - Sendouts

Referred to:

Mayo Medical Laboratories (Mayo Test: GALT)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

3 – 4 days; test set up Monday, Wednesday, Friday

Special Instructions:

Biochemical Genetics Request Form (Supply T439) is required.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

5 mL (Minimum: 2 mL) blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture

Special Processing:

Lab Staff: Do Not centrifuge. Specimen should remain in original collection tube. Store and ship at refrigerated temperatures. Include Patient History for Galactosemia Form. Specimen must not be frozen. Forward promptly.

Patient Preparation:

None

Sample Rejection:

Specimens other than whole blood, anticoagulants other than EDTA; Heparin or ACD, gross hemolysis; frozen specimens; mislabeled or unlabeled specimens

Interpretive

Reference Range:

≥24.5 nmol/h/mg Hb
An interpretive report will be provided.

Critical Values:

N/A

Limitations:

This assay is not useful for monitoring of dietary compliance by galactosemics.

This assay will not detect galactokinase deficiency or uridine diphosphate galactose 4-epimerase deficiency.

Methodology:

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

References:

Mayo Medical Laboratories Web Page (April 2014)

Updates:

11/21/2006: MML has removed the upper normal range value for this test. The reference range previously was stated as 18.5-28.5 U/g of hemoglobin.
2/14/2014: Test down at MML, temporary move to ARUP.
4/28/2014: Test back up at MML with new method, previously listed as enzymatic. Please note new reference range.



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