UDP-Galactose-4-Epimerase, Blood
Abbrev Code: | MMMISC | ||
Order Code: | LAB4909 | Order 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. | ||
Compliance: | 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 |
Interpretive
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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