HEX4, urine
Test Mnemonic
UHEX4
CPT Codes
- 82542 - QTY (1)
- 82570 - QTY (1)
Aliases
- Glycogen storage disease type II
- Pompe disease
Includes
- HEX4 (Glc4)
Performing Laboratory
Duke University Hospital
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 1 mL | Urine, random | Clean container | Frozen | Fasting sample preferred. Send completed UHEX4 Patient Information Form with specimen. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 0.25 mL |
Stability
| Environmental Condition | Description |
|---|---|
| Frozen | Acceptable |
| Refrigerated | 24 hours |
| Ambient | 4 hours |
Days Performed
Mon - Fri
Turnaround Time
15 - 16 days
Methodology
| Name | Description |
|---|---|
| Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS) |
Special Info
Fasting sample preferred. Send completed UHEX4 Patient Information Form with specimen.
Clinical Info
This test is useful to monitor patients with Pompe disease (GSD II) on enzyme replacement therapy. It is also useful for the diagnosis of Pompe disease when performed in conjunction with the blood acid alpha glucosidase enzyme assay. The reported Hex4 value in this assay is a measure of Glc4.
Clinical Limitation
Hex4 may be elevated in a number of pathological and physiological conditions and is not specific to Pompe disease.