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HelpTest Code GALU Galactose, Quantitative, Random, Urine
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
UrineOrdering Guidance
This test is not recommended for follow-up of positive newborn screening results or for diagnosis of galactosemia. The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood along with GAL1P / Galactose-1-Phosphate, Erythrocytes.
This test is not appropriate for monitoring of galactosemia. For monitoring, order GAL1P / Galactose-1-Phosphate, Erythrocytes.
Necessary Information
Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Specimen Required
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube: Clean, plastic urine collection container
Submission Container/Tube: Plastic, 5-mL tube
Specimen Volume: 1 mL
Collection Instructions: Collect a random urine specimen.
Specimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Frozen (preferred) | 365 days | |
| Ambient | 20 days | ||
| Refrigerated | 20 days |
Reference Values
<30 mg/dL
Day(s) Performed
Tuesday
CPT Code Information
82760
Report Available
4 to 10 daysSpecimen Retention Time
1 monthReject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Genetics Test Information
Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.
Urine galactose can be elevated in patients with galactosemia caused by either GALT deficiency or galactokinase deficiency.
Classic galactosemia can be diagnosed by analysis of GALT enzyme.