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Test ID GALE UDP-Galactose 4' Epimerase (GALE), Blood

Useful For

Diagnosis of UDP-galactose 4' epimerase deficiency

Genetics Test Information

Enzyme testing only.

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


Advisory Information


This test is for diagnosis of UDP-galactose 4' epimerase (GALE) deficiency.

 

For diagnosis of galactokinase deficiency, see GALK / Galactokinase, Blood.

 

To evaluate for galactose-1-phosphate uridyltransferase deficiency, see GALT / Galactose-1-Phosphate Uridyltransferase, Blood.

 

This assay is not appropriate for monitoring dietary compliance; see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.

 

This assay will not detect galactokinase deficiency (see GALK / Galactokinase, Blood) or galactose-1-phosphate uridyltransferase deficiency (see GALT / Galactose-1-Phosphate Uridyltransferase, Blood).



Necessary Information


Patient's age is required.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin), green top (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. set up (specimen must be received the day prior)

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) in Special Instructions.

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.