| Laboratory: | Clinical Biochemistry (METABOLIC) |
| Test Name: |
GLUCOTETRASACCHARIDES (Hex4) - (U)
Test Code:
MIS8
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| Clinical Information: |
Alternate Name(s):
Hex4 Glucotetrasaccharide Hexose Tetrasaccharide Pompe Urine Biomarker Glycogen Storage Disease type II Biomarker Description: Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene. Test Indications: The urine Hex4 assay is used to monitor patients with Pompe Disease (GSD II) on enzyme replacement therapy. Test Approval Requirements: Biochemical Geneticist Consult Required F260-11-02 Biochemistry Approval for Test Referral Form Patient preparation instructions: Prepandrial or fasting samples are recommended to avoid dietary artifacts and enhance sensitivity. |
| Collection Devices: |
Preferred Device:
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| Specimen Required: |
Urine: 3.0 mL
Pediatric Urine: 1.0 mL
Collection Information: No preservative Special Processing: Store at -20 C and ship frozen. Specimen Stability: Ambient: 14 days Refrigerated: 28 days Frozen: 87 days (recommended) |
| Referral: |
Urine: 3.0 mL
Pediatric Urine: 1.0 mL
Shipping & Storage: Send frozen to Metabolic Lab at HSC with the original requisition or clear copy.
Referred Out Location: Mayo Clinical Laboratories- Rochester Main Campus Test Code: Hex4 |
| Requisition: | |
| Reference Values: |
Reference Intervals: < or =14 months: < or =14.9 mmol/mol Cr
> or =15 months: < or =4.0 mmol/mol Cr
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| Availability: |
Within 10 Days
Days Performed: Wednesday
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| See Also: | |
| More Information: |
Additional Information: Hex4 may be elevated in a number of pathological and physiological conditions and is not specific to Pompe disease.
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