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

Useful For

Diagnosis of UDP-galactose 4’ epimerase deficiency

Testing Algorithm

See Galactosemia Testing Algorithm in Special Instructions.

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


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

Additional Information: Patient's age is required.

Forms: 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.


Specimen Minimum Volume

2 mL

Specimen Stability Information

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

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)

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