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Test ID GALU Galactose, Quantitative, Random, Urine

Useful For

Screening test for galactosemia using urine specimens

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 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


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: Aliquot Tube, 5 mL (T465)

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

Performing Laboratory

Mayo Clinic 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 US Food and Drug Administration.

Testing Algorithm

See Galactosemia Testing Algorithm in Special Instructions.

Disease States

  • Galactosemia

Report Available

8 to 15 days

NY State Approved

Yes

Forms

1. Biochemical Genetics Patient Information (T602) is recommendation, see Special Instructions.

2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.