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HelpTest Code HEX4 Glucotetrasaccharides, Random, Urine
Ordering Guidance
Additional Testing Requirements
When requested for the diagnosis of Pompe disease (glycogen storage disorder type II), urine glucotetrasaccharide concentrations need to be interpreted in light of the clinical presentation and other laboratory test results, such as blood creatine kinase, alpha-glucosidase (GAA) activity, and GAA genotype.
Necessary Information
1. Patient's age is required.
2. Reason for testing is required.
Specimen Required
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Container/Tube: Plastic, 5-mL urine tube
Specimen Volume: 3 mL
Collection Instructions:
1. Collect a random urine specimen.
2. No preservative.
CMH COLLECTION: 2 mL in sterile container
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Frozen (preferred) | 87 days | |
| Refrigerated | 28 days | ||
| Ambient | 14 days |
Testing Algorithm
For more information see Newborn Screen Follow-up for Pompe Disease
Useful For
Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene
Monitoring patients with Pompe disease 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.
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Day(s) Performed
Wednesday
Report Available
4 to 10 daysReporting Name
Glucotetrasaccharides, UReference Values
≤14 months: ≤14.9 mmol/mol Cr
≥15 months: ≤4.0 mmol/mol Cr
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82542
82570