Galactosemia - Galactitol, Urine - LG4245
| Sunquest Code: | MMMISC | ||
| Epic Code: | LAB4909 | Epic Name: | Send Outs Misc Test |
| Synonyms: | Urinary Galactitol | ||
| Methodology: | Gas chromatography/Mass spectrometry | ||
| Turnaround Time: | Specimens are sent to the reference laboratory Mon-Fri; results are reported within 3-9 days. | ||
| Special Instructions: | For diagnostic purposes, specimens should ideally be collected during time of acute illness as abnormal metabolite levels may decrease, sometimes to near normal concentrations, when the patient is well. | ||
| 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: | Urine, random collection |
| Optimal Volume: | Submit entire collection; analysis requires 2 mL |
| Container: | Plastic leakproof container, sterile |
| Patient Preparation: | Patient age is required. |
| Causes for Rejection: | Urine in preservative. |
Processing and Shipping
| Specimen Processing: | Mix collection well before aliquot is taken. Aliquot 2 mL,1 mL minimum. Store refrigerated. |
| Shipping Instructions: | Ship refrigerated. |
| Stability: | 28 days refrigerated or frozen. |
| Test Performed at or Referral Lab | Lab Sendouts (Mayo Medical Laboratories) |
| Referral Lab number: | GATOL |
Interpretive
| Reference Range: |
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| Use: | Use to diagnose galactokinase or GALT deficient galactosemia. Monitor effectiveness of therapy in individuals with biochemical diagnosis of classical or Duarte galactosemia or variant galactosemia due to galactokinase or epimerase deficiency. This test is NOT recommended for galactosemia screening or diagnosis of persons with positive newborn screen. |
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