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Test Code LAB1232174 Galactose, Quantitative, Random, Urine

Important Note

Mayo code is GALU

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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: 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

Day(s) Performed

Tuesday

Specimen Retention Time

1 month

Report Available

4 to 10 days

Reference 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.