Pompe Disease Quantitative Blood Test
Short Name: Pompe GAA Blood Test
Also known as: Acid Alpha-Glucosidase (GAA) Enzyme Activity Test, GAA Assay, Blood
Pompe Disease Quantitative Blood Test test available at DNA Labs India for ₹4,000. Uses Enzyme Assay, Quantitative GAA Activity Measurement on Whole Blood samples. Results in Samples are processed daily by 4 pm. Reports are available within 4 days from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to quantitatively assess the enzymatic activity of acid alpha-glucosidase (GAA) in whole blood. Measurement of GAA activity is used for the diagnosis of Pompe disease and for monitoring the effectiveness of enzyme replacement therapy in previously diagnosed patients.
- Test Code
- 3568
- CPT Code
- 82658
- ICD Code
- E74.02
- Price
- ₹4,000
- Sample Type
- Whole Blood
- Result Time
- Samples are processed daily by 4 pm. Reports are available within 4 days from sample receipt.
- Fasting Required
- No
- Method
- Enzyme Assay, Quantitative GAA Activity Measurement
Sample Collection
Clinical history is mandatory. No fasting is required. Inform your doctor about all medications and supplements.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected from a vein in your arm by a trained phlebotomist. The procedure takes a few minutes and involves minimal discomfort.
Report Delivery
You may resume normal activities immediately. A pressure bandage may be applied at the puncture site. If you experience significant bleeding or bruising, contact your healthcare provider.
Timeline: Samples are processed daily by 4 pm. Reports are available within 4 days from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to quantitatively assess the enzymatic activity of acid alpha-glucosidase (GAA) in whole blood. Measurement of GAA activity is used for the diagnosis of Pompe disease and for monitoring the effectiveness of enzyme replacement therapy in previously diagnosed patients.
How to Prepare
- Clinical history must be provided at the time of sample submission
- Sample should be collected in EDTA or Sodium Heparin tubes (lavender or green top)
- Ship refrigerated within 48 hours of collection
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early detection of Pompe disease through GAA enzyme activity testing allows timely initiation of enzyme replacement therapy, which can significantly improve outcomes, especially in the infantile form."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic samples
- Incorrect label or incomplete clinical history
- Samples received after 48 hours from collection
- Use of inappropriate collection tube
Understanding Your Results
Normal GAA activity
Pompe disease is unlikely; consider other causes of myopathy or cardiomyopathy
Moderately reduced GAA activity
Suspected Pompe disease, especially late-onset form; requires correlation with clinical symptoms and genetic testing
Severely reduced GAA activity
Consistent with infantile or early-onset Pompe disease; urgent referral to a metabolic specialist
Consult a physician or genetic specialist if you or your child have muscle weakness, breathing difficulty, poor feeding, enlarged heart, or a family history of Pompe disease. Early evaluation can lead to timely intervention.
Limitations
- ⚠Reduced GAA activity is indicative but not confirmatory of Pompe disease; genetic mutation analysis is necessary for a definitive diagnosis
- ⚠Enzyme activity results should always be interpreted in the context of clinical presentation
- ⚠Pseudodeficiency alleles may cause reduced GAA activity without clinical disease
Risks & Considerations
- ●Mild bruising at the puncture site
- ●Dizziness or fainting (rare)
- ●Infection (very rare, prevented by sterile technique)
Interfering Factors
- ●Hemolyzed or improperly stored blood samples may affect enzyme activity
- ●Recent blood transfusion can alter measured enzyme levels
- ●Incomplete clinical information may impact result interpretation
Frequently Asked Questions
What is the cost of the Pompe Disease Quantitative Blood Test?
What is the purpose of this test?
What type of sample is required?
Is fasting required for this test?
How long will my reports take?
Can I get home sample collection?
What is the normal range for GAA enzyme activity?
Is this test diagnostic for Pompe disease?
What are the symptoms of Pompe disease?
Who should undergo this test?
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