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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.

Method Name

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

Reporting Name

UDP-galactose 4' epimerase, RBC

Specimen Type

Whole Blood EDTA


Ordering Guidance


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) Performed

Friday

Report Available

8 to 15 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. 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

Yes

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 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.