Pompe Disease (GAA), Enzyme Activity in Leukocytes
Also known as: GAA ENZYME
Use
This test is used to diagnose Pompe disease, a type of glycogen storage disorder caused by an enzyme deficiency of acid alpha-glucosidase (GAA). It measures the activity of the enzyme GAA in leukocytes to confirm a diagnosis of Pompe disease, also known as Glycogen Storage Disease II. Genetic evaluation is recommended for confirmation and further insights. The test does not predict disease severity or carrier status, and it doesn't evaluate enzyme activities for other lysosomal storage disorders.
Special Instructions
Additional information is required: Clinical indication for testing. New York state-approved. Transport samples refrigerated. Grossly hemolyzed specimens must be avoided to ensure test validity.
Limitations
This test cannot predict disease severity or evaluate the presence of other lysosomal storage disorders. Normal enzyme activity can be observed in treated individuals receiving enzyme replacement therapy. The interpretation of the results should consider genetic testing for comprehensive evaluation. Results may not be accurate in the presence of interfering glucosidases.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 24051-5
- 48767-8
Result Turnaround Time
3-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Yellow (ACD), lavender (K2EDTA), lavender (K3EDTA), or green (sodium heparin).
Storage Instructions
Refrigerated
Causes for Rejection
Grossly hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient: 3 days |
| Refrigerated | Refrigerated: 3 days |
| Frozen | Frozen: Unacceptable |