Pompe Disease (GAA), Enzyme Activity in Leukocytes
2014463
Ordering Recommendation

Use to diagnose Pompe disease only; not indicated for carrier screening.

Mnemonic
GAA ENZYME
Methodology
Quantitative Fluorometry
Performed
Varies
Reported
3-10 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Submit With Order
ARUP Consult®
Disease Topics
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 
Reference Interval
5.5 - 25.0 nmol hydrolyzed/hr/mg protein
Interpretive Data
Refer to report.

Statement B: Compliance Statement B: For laboratory developed tests not using a RUO kit, and for FDA approved, cleared or 510(k) exempt assays with alterations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Note
Hotline History
N/A
Components
Component Test Code*Component Chart NameLOINC
2014464Pompe GAA Activity Leukocytes Interp48767-8
2014465Pompe GAA Activity Leukocytes24051-5
* 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 view this test within the Laboratory Test Directory found at www.aruplab.com
Aliases
  • acid alpha-glucosidase
  • GAA
  • glycogen storage disorder type II
  • Pompe