Test Code LAB1232174 Galactose, Quantitative, Random, Urine
Performing Laboratory
Mayo Clinic Laboratories in RochesterReporting Name
Galactose, QN, USpecimen 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.
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Urine | Frozen (preferred) | 365 days | |
Ambient | 20 days | ||
Refrigerated | 20 days |
Specimen Minimum Volume
0.5 mL
Special Instructions
Day(s) Performed
Tuesday
Specimen Retention Time
1 monthReport Available
4 to 10 daysReference Values
<30 mg/dL
Useful For
Screening test for galactosemia using urine specimens
Testing Algorithm
For information, see Galactosemia Testing Algorithm.
CPT Code Information
82760
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
GALU | Galactose, QN, U | 2310-1 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
8765 | Galactose, QN, U | 2310-1 |
Disease States
- Galactosemia
Forms
Biochemical Genetics Patient Information (T602) is recommended.
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.