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Test Code GALT Galactose-1-Phosphate Uridyltransferase, Blood


Ordering Guidance


This assay is not appropriate for monitoring dietary compliance. If dietary monitoring is needed, order GAL1P / Galactose-1-Phosphate, Erythrocytes.

 

This test is for galactose-1-phosphate uridyltransferase (GALT) enzyme testing only. The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood.

 

This assay will not detect galactokinase (GALK) deficiency or uridine diphosphate-galactose 4' epimerase (GALE) deficiency.

-To evaluate for GALK deficiency, order GALK / Galactokinase, Blood.

-To evaluate for GALE deficiency, order GALE / Uridine Diphosphate -Galactose 4' Epimerase, Blood.

-To evaluate for GALM deficiency, order GALP / Galactose, Plasma and molecular analysis of the GALM gene.



Necessary Information


Patient's age is required.

 

Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.



Specimen Required


Multiple whole blood tests for galactosemia can be performed on 1 specimen. Prioritize order of testing when submitting specimens. For a list of tests that can be ordered together see Galactosemia-Related Test List.

 

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin) or yellow top (ACD)

Specimen Volume: 5 mL


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) is recommended.

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Useful For

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia

 

Confirmation of abnormal state newborn screening results

Testing Algorithm

For more information see Galactosemia Testing Algorithm.

Method Name

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

Reporting Name

Gal-1-P Uridyltransferase, RBC

Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Refrigerated (preferred) 28 days
  Ambient  14 days

Reference Values

≥24.5 nmol/h/mg of hemoglobin

Day(s) Performed

Monday, Wednesday, Friday

Report Available

4 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82775

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GALT Gal-1-P Uridyltransferase, RBC 24082-0

 

Result ID Test Result Name Result LOINC Value
8333 Gal-1-P Uridyltransferase, RBC 24082-0
2296 Interpretation (GALT) 59462-2
58115 Reviewed By 18771-6