Galactosemia - Galactitol, Urine

Abbrev Code:MMMISC   
Order Code:LAB4909Order Name:Send Outs Misc Test
Synonyms:Urinary Galactitol
Methodology:Gas chromatography/Mass spectrometry
CPT Codes: 82542 x1
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.

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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Urine Collection Procedure

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


Reference Range:
0-11 mo <109 mmol/mol creatinine
1-3 y <52 mmol/mol creatinine
4-17 y <16 mmol/mol creatinine
18 y & older <13 mmol/mol creatinine
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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