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
This test is New York DOH 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

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