UDP-Galactose-4-Epimerase, Blood

Abbrev Code:MMMISC   
Order Code:LAB4909Order Name:UDP Galactose 4 Epimerase RBC
Synonyms:Galactosemia (Epimerase): GALE Enzyme Activity
Methodology:Enzyme reaction followed by liquid chromatography-Tandem mass spectrometry
CPT Codes: 83789 x1
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 8-15 days.
Special Instructions:Patient age is required.

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.

Collection Instructions

Specimen:Whole Blood
Optimal Volume:5 mL
Minimum\Peds Volume:2 mL
Container:Purple (EDTA)
Alternate Containers: Green (lithium heparin, gel), Green (sodium heparin, no gel), Yellow (ACD, Solution A) tube available from laboratory
Causes for Rejection:Gross hemolysis

Processing and Shipping

Specimen Processing:Whole blood. Do not process. Store at refrigerated temperature.
Shipping Instructions:Ship overnight at room temperature. Must arrive within 24 hours of collection.
Stability:Stability: 6 days at room temperature; 14 days refrigerated (preferred).
Test Performed at or Referral Lab Lab Sendouts  (Mayo)
Referral Lab number:GALE


Reference Range:>=3.5 nmol/h/mg of hemoglobin. An interpretive report will be provided.
Use:Enzymatic testing only. This assay is not useful for monitoring dietary compliance. This assay will not detect galactokinase deficiency or galactose-1-phosphate uridyltransferase deficiency.

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