Galactitol, Quantitative, Urine

Test Code

13524

CPT Codes
82542<br>Restricted Client Code

Preferred Specimen

2 mL random urine collected in a plastic, leakproof (preservative-free) container

Minimum Volume

1 mL

Instructions

1. Collect a random urine specimen.
2. No preservative.

Patient's age and reason for referral are required.
3 mL urine collected in Aliquot Tube, 5 mL (T465), minimum: 1 mL

Transport Temperature

Refrigerated (cold packs)

Specimen Stability

Room temperature: Unacceptable
Refrigerated: 28 days
Frozen: 28 days

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability

Methodology
Gas Chromatography Mass Spectrometry

FDA Status
This test was developed, and its performance determined by Mayo Clinic in a manner consistent with CLIA in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Setup Schedule

Set up: Tues; Report available: 2-9 days

Reference Range

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

Clinical Significance

Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene. Monitoring Pompe patients on enzyme replacement therapy may support the diagnosis and monitoring of other glycogen storage disorders; however, glucotetrasaccharide (Glc4) excretion appears to be less consistently elevated in glycogen storage disorders other than Pompe disease.
This test is not useful for carrier screening.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.