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Test ID GATOL Galactitol, Quantitative, Urine

Useful For

Monitoring effectiveness of treatment in patients with galactosemia

 

Establishing a baseline level prior to initiating treatment for galactosemia

Genetics Test Information

This test may be used as an aid in the diagnosis of galactosemia.

 

Urinary galactitol is often not affected by acute dietary ingestion of galactose; therefore, it is not a substitute for GAL1P / Galactose-1-Phosphate, Erythrocytes in monitoring diet.

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS)

Reporting Name

Galactitol, QN, U

Specimen Type

Urine


Necessary Information


Patient's age is required.



Specimen Required


Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 2 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Refrigerated (preferred) 28 days
  Frozen  28 days

Reference Values

0-11 months: <109 mmol/mol creatinine

1-3 years: <52 mmol/mol creatinine

4-17 years: <16 mmol/mol creatinine

≥18 years: <13 mmol/mol creatinine

Day(s) Performed

Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GATOL Galactitol, QN, U 47857-8

 

Result ID Test Result Name Result LOINC Value
35831 Galactitol 47857-8
35832 Interpretation (GATOL) 59462-2
35833 Reviewed By 18771-6

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.

Disease States

  • Galactosemia

Report Available

2 to 9 days

NY State Approved

Yes