Test Code GALU Galactose, Quantitative, Random, Urine
Reporting Name
Galactose, QN, UPerforming Laboratory
Mayo Clinic Laboratories in RochesterUseful For
Screening test for galactosemia using urine specimens
Method Name
Spectrophotometric/Kinetic
Ordering 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 Type
UrineSpecimen 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 |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
<30 mg/dL
Interpretation
Additional testing is required to investigate the cause of abnormal results.
In patients with galactosemia, elevated galactose in plasma or urine may suggest ineffective dietary restriction or compliance; however, the concentration of galactose-1-phosphate in erythrocytes (GAL1P / Galactose-1-Phosphate, Erythrocytes) is the most sensitive index of dietary control for patients with galactose-1-phosphate uridyltransferase and uridine diphosphate galactose-4-epimerase deficiencies.
Increased concentrations of galactose may also be suggestive of severe hepatitis, biliary atresia of the newborn, and, in rare cases, galactose intolerance.
If galactosemia is suspected, additional testing to identify the specific enzymatic defect is required. See Galactosemia Testing Algorithm for follow-up of abnormal newborn screening results, comprehensive diagnostic testing, and carrier testing. Results should be correlated with clinical presentation and confirmed by specific enzyme or molecular analysis. For more information see Ordering Guidance.
Day(s) Performed
Tuesday
Report Available
4 to 10 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.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 |
Forms
Biochemical Genetics Patient Information (T602) is recommended.
Testing Algorithm
For information, see Galactosemia Testing Algorithm.