GAA Gene Pompe disease NGS Genetic Test
Short Name: Pompe Disease NGS
Also known as: Pompe Disease Genetic Test, GAA Gene Sequencing, Acid Alpha-Glucosidase Gene Mutation Test, Glycogen Storage Disease Type II DNA Test
GAA Gene Pompe disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are available in 3 to 4 weeks after the sample is received and processed.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to detect pathogenic variants in the GAA gene, which is responsible for the production of acid alpha-glucosidase. It is used to confirm or rule out a clinical diagnosis of Pompe disease, facilitate early intervention, and help in genetic counseling for affected families.
- Test Code
- 4469
- ICD Code
- E74.02
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available in 3 to 4 weeks after the sample is received and processed.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A genetic counseling session is recommended before testing to draw a family pedigree and discuss the implications of results.
Laboratory Analysis
Blood sample collection by venipuncture or FTA card blood spot; ensure sample volume as required.
Report Delivery
No restrictions. The sample is sent to the laboratory for DNA extraction and NGS analysis.
Timeline: Reports are available in 3 to 4 weeks after the sample is received and processed.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the GAA gene, which is responsible for the production of acid alpha-glucosidase. It is used to confirm or rule out a clinical diagnosis of Pompe disease, facilitate early intervention, and help in genetic counseling for affected families.
How to Prepare
- Inform the laboratory about relevant clinical history.
- Ensure that the sample is collected in the appropriate collection tube or FTA card.
- Maintain ambient temperature during transport; avoid freezing whole blood.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis of Pompe disease through GAA gene testing enables timely initiation of enzyme replacement therapy, which is critical to prevent irreversible muscle damage."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood samples
- Sample received in incorrect container
- Insufficient sample quantity
- Samples with evidence of microbial contamination
Understanding Your Results
Positive for a pathogenic or likely pathogenic variant
Confirms the diagnosis of Pompe disease in a symptomatic patient.
Negative result
Reduces the likelihood of Pompe disease, but does not exclude all variants (e.g., deep intronic or large structural variants).
Variant of uncertain significance (VUS)
Requires further segregation analysis or additional functional studies.
If the test result is positive or suspicious, please consult a clinical geneticist or neurologist for treatment options and family counseling.
Limitations
- ⚠NGS may not detect all types of mutations such as large deletions or deep intronic variants; these may require additional testing.
- ⚠Variants of uncertain significance (VUS) may require further evaluation.
- ⚠This test does not measure enzyme activity levels; enzyme testing is complementary.
- ⚠Consanguinity may affect interpretation.
Risks & Considerations
- ●There is minimal risk of bruising, bleeding, or infection from blood draw
Interfering Factors
- ●Poor sample quality
- ●DNA degradation
- ●Contamination during sample handling
- ●Maternal cell contamination (if prenatal)
- ●Incomplete gene coverage due to complex variants
Compare With Similar Tests
| Test | GAA Gene Pompe disease NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | GAA Gene Pompe disease NGS Genetic Test |
Frequently Asked Questions
What is Pompe disease?
Which gene is responsible for Pompe disease?
How is Pompe disease inherited?
What are the symptoms of Pompe disease in infants?
What are the symptoms of Pompe disease in adults?
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What is the cost of GAA gene Pompe disease NGS genetic test at DNA Labs India?
What sample is required for the test?
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Is a special diet or fasting required before the test?
Does DNA Labs India provide raw data files with the report?
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