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Glucotetrasaccharides, Random, Urine
Test Code10166
CPT Codes
82542, 82570<br>Restricted Client Code
Preferred Specimen
3 mL frozen random urine in a 5 mL aliquot, screw-cap tube (T465)
Minimum Volume
1 mL
Instructions
1. Collect a random urine specimen.
2. No preservative.
Note: Patient's age and reason for referral are required.
Transport Temperature
Frozen
Specimen Stability
Room temperature: 14 days
Refrigerated: 28 days
Frozen: 87 days
Refrigerated: 28 days
Frozen: 87 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability
Methodology
Liquid Chromatography/Tandem Mass Spectrometry
FDA Status
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 U.S. Food and Drug Administration.
Setup Schedule
Set up: Wed; Report available: 7-14 days
Reference Range
< or = 14 months: < or =14.9 mmol/mol C
> or = 15 months: < or =4.0 mmol/mol Cr
> or = 15 months: < or =4.0 mmol/mol Cr
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.