UDP-Galactose-4-Epimerase, Blood
| Sunquest Code: | MMMISC | ||
| Epic Code: | LAB4909 | Epic Name: | UDP Galactose 4 Epimerase RBC |
| Synonyms: | Galactosemia (Epimerase): GALE Enzyme Activity | ||
| Methodology: | Enzyme reaction followed by liquid chromatography-Tandem mass spectrometry | ||
| 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. |
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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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