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2014463
Pompe Disease (GAA), Enzyme Activity in Leukocytes
GAA ENZYME
Ordering Recommendation
Use to diagnose Pompe disease only; not indicated for carrier screening.
New York DOH Approval Status
This test is New York state approved.
Specimen Required
Patient Preparation
Collect
Yellow (ACD), lavender (K2EDTA), lavender (K3EDTA), or green (sodium heparin).
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature
Refrigerated
Unacceptable Conditions
Grossly hemolyzed specimens.
Remarks
Additional information is required: Clinical indication for testing.
Stability
Ambient: 3 days; Refrigerated: 3 days; Frozen: Unacceptable
Methodology
Quantitative Fluorometry
Performed
Mon
Reported
3-10 days
Reference Interval
5.5 - 25.0 nmol hydrolyzed/hr/mg protein
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Hotline History
N/A
CPT Codes
82657
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2014464 | Pompe GAA Activity Leukocytes Interp | 48767-8 |
| 2014465 | Pompe GAA Activity Leukocytes | 24051-5 |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
- acid alpha-glucosidase
- GAA
- glycogen storage disorder type II
- Pompe
Pompe Disease (GAA), Enzyme Activity in Leukocytes
