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Test ID GALU Galactose, Quantitative, Urine

Useful For

Screening test for galactosemia in urine specimens

Highlights

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 galactose-1-phosphate uridyltransferase (GALT) deficiency or galactokinase (GALK) deficiency.

 

Classic galactosemia can be diagnosed by analysis of GALT enzyme.

Method Name

Spectrophotometric, Kinetic

Reporting Name

Galactose, QN, U

Specimen Type

Urine


Advisory Information


This test is not appropriate for the diagnosis of galactosemia. For diagnosis, see GCT / Galactosemia Reflex, Blood.

 

This test is not appropriate for monitoring of galactosemia. For monitoring, see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.



Specimen Required


Supplies: Aliquot Tube, 5 mL (T465)

Collection Container/Tube: Clean, plastic urine collection container

Submission Container/Tube: Plastic, 5-mL tube (T465)

Specimen Volume: 1 mL

Collection Instructions: Collect a random urine specimen.


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen (preferred) 365 days
  Ambient  20 days
  Refrigerated  20 days

Reference Values

<30 mg/dL

Day(s) and Time(s) Performed

Varies

Performing Laboratory

Mayo Medical Laboratories in Rochester

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

Test Classification

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.

Testing Algorithm

This test is not appropriate for the diagnosis or monitoring of galactosemia. For diagnosis, see GCT / Galactosemia Reflex, Blood. For monitoring, see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.

 

See Galactosemia Testing Algorithm in Special Instructions

Forms

Biochemical Genetics Patient Information (T602) in Special Instructions.