Test ID GALE UDP-Galactose 4' Epimerase, Blood
Useful For
Diagnosis of UDP-galactose 4' epimerase deficiency
Genetics Test Information
Enzymatic testing for the diagnosis of uridine diphosphate (UDP)-galactose 4' epimerase (GALE) deficiency.
Testing Algorithm
See Galactosemia Testing Algorithm in Special Instructions for additional information.
Special Instructions
Method Name
Enzyme Reaction followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
UDP-galactose 4' epimerase, RBCSpecimen Type
Whole Blood EDTAAdvisory Information
This test is appropriate for diagnosis of uridine diphosphate-galactose 4' epimerase (GALE) deficiency but will not detect galactokinase (GALK) deficiency or galactose-1-phosphate uridyltransferase (GALT) deficiency.
-To evaluate for GALK deficiency, order GALK / Galactokinase, Blood.
-To evaluate for GALT deficiency, order GALT / Galactose-1-Phosphate Uridyltransferase, Blood.
This assay is not appropriate for monitoring dietary compliance. If dietary monitoring is needed, order GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.
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. See Galactosemia-Related Test List in Special Instructions for a list of tests that can be ordered together.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium or lithium heparin) or yellow top (ACD)
Specimen Volume: 5 mL
Specimen Minimum Volume
2 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood EDTA | Refrigerated (preferred) | 14 days | |
Ambient | 6 days |
Reference Values
≥3.5 nmol/h/mg of hemoglobin
Day(s) and Time(s) Performed
Friday, 7 a.m. (specimen must be received the day prior)
Performing Laboratory

Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
82542
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
GALE | UDP-galactose 4' epimerase, RBC | 79469-3 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
64372 | UDP-galactose 4' epimerase, RBC | 79469-3 |
37979 | Interpretation (GALE) | 59462-2 |
37978 | Reviewed By | 18771-6 |
NY State Approved
YesForms
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 in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602) is recommended, see Special Instructions.
3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.