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Test ID GALE Uridine Diphosphate-Galactose 4' Epimerase, Blood

Useful For

Diagnosis of uridine diphosphate-galactose 4' epimerase deficiency

Testing Algorithm

For more information see Galactosemia Testing Algorithm.

Specimen Type

Whole Blood EDTA


Ordering Guidance


This test is appropriate for diagnosis of uridine diphosphate-galactose 4' epimerase (GALE) deficiency, but it will not detect galactokinase (GALK) deficiency, galactose-1-phosphate uridyltransferase (GALT) deficiency, or galactose mutarotase (GALM) deficiency.

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

-To evaluate for GALT deficiency, order GALT / Galactose-1-Phosphate Uridyltransferase, Blood.

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

 

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



Shipping Instructions


Pre-analytical processing is performed Monday through Friday and Sunday. This test may be canceled if specimens are outside of stability when processing occurs. Collect and package specimens for arrival on days when processing is performed.



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 or lithium heparin) or yellow top (ACD)

Specimen Volume: 5 mL


Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Refrigerated (preferred) 14 days
  Ambient  6 days

Reject Due To

Gross hemolysis Reject

Reference Values

≥3.5 nmol/h/mg of hemoglobin

Day(s) Performed

Preanalytical processing: Monday through Friday, Sunday

Assay performed: Friday

Report Available

6 to 12 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

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.