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

Additional Codes

MAYO Test ID

GALE

EPIC Test ID

LAB2608

 

Useful For

Diagnosis of UDP-galactose 4' epimerase 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


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
Whole Blood EDTA Refrigerated (preferred) 14 days
  Ambient  6 days

Reject Due To

Hemolysis

Mild OK; Gross reject

Lipemia

NA

Icterus

NA

Other

NA

Reference Values

>5.0 nmol/h/mg of hemoglobin

Day(s) and Time(s) Performed

Wednesday, 7 a.m. set up (specimen must be received the day prior)

Analytic Time

8 days (not reported on Saturday or Sunday)

Performing Laboratory

Mayo Medical 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 In Process

 

Result ID Test Result Name Result LOINC Value
64372 UDP-galactose 4' epimerase, RBC In Process
37979 Interpretation (GALE) In Process
37978 Reviewed By No LOINC Needed

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Biochemical Genetics Patient Information (T602) in Special Instructions.