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Test Code GATOL Galactitol, Quantitative, Urine

Useful For

Monitoring effectiveness of treatment in patients with galactosemia

 

Establishing a baseline level prior to initiating treatment for galactosemia

Reporting Name

Galactitol, QN, U

Specimen Type

Urine


Ordering Guidance


To monitor dietary ingestion of galactose, order GAL1P / Galactose-1-Phosphate, Erythrocytes.



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

Interpretation

The concentration of galactitol is provided along with reference ranges for patients with galactosemia and normal controls.

Clinical Reference

1. Berry GT. Classic galactosemia and clinical variant galactosemia. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated March 11, 2021. Accessed October 24, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1518/

2. Walter JH, Fridovich-Keil JL. Galactosemia. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed October 24, 2023. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225081023&bookid=2709

3. OMIM entry 618881 Galactose mutarotase deficiency. Johns Hopkins University; 2020. Updated August 20, 2020. Available at https://omim.org/entry/618881

4. Pasquali M, Yu C, Coffee B. Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(1):3-11. doi:10.1038/gim.2017.172

Day(s) Performed

Tuesday, Friday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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

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

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)