GAA Gene Glycogen storage disease type 2 NGS Genetic Test
Short Name: GAA Gene Pompe Disease NGS Test
Also known as: Pompe Disease Genetic Test, GAA Gene Sequencing Test, Acid Maltase Deficiency Genetic Test, GSD Type II NGS Test, GAA Mutation Analysis Test
GAA Gene Glycogen storage disease type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Targeted Gene Panel Sequencing, Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Rush processing may be available upon request for clinically urgent cases. Digital reports are delivered via the DNA Labs India online portal, email, and WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the GAA Gene NGS Genetic Test is to provide a definitive molecular diagnosis of Glycogen Storage Disease Type 2 (Pompe Disease) by identifying pathogenic or likely pathogenic mutations in the GAA gene. This test enables confirmation of clinical diagnosis, facilitates genetic counselling for affected families, guides treatment decisions including eligibility for enzyme replacement therapy (ERT) with alglucosidase alfa, allows carrier testing for family members, supports prenatal and preimplantation genetic diagnosis in at-risk families, and aids in genotype-phenotype correlation for prognostic assessment.
- Test Code
- 2031
- CPT Code
- 81405
- ICD Code
- E74.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Rush processing may be available upon request for clinically urgent cases. Digital reports are delivered via the DNA Labs India online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Targeted Gene Panel Sequencing, Sanger Confirmation of Variants, Bioinformatics Pipeline Analysis
Sample Collection
A Genetic Counselling session is recommended before sample collection to draw a complete pedigree chart of family members affected with Glycogen Storage Disease Type 2. Clinical history of the patient including prior diagnostic test results, family history, and current symptoms should be documented. No fasting is required for this test.
Method: Venipuncture / FTA Card blood spot
Laboratory Analysis
A peripheral blood sample of 3-5 mL is collected by venipuncture into an EDTA (Lavender Top) vacutainer. Alternatively, a single drop of blood can be spotted and dried on an FTA card. The sample is labeled with patient identifiers and transported under appropriate conditions to the laboratory.
Report Delivery
The blood sample is processed to extract genomic DNA. The extracted DNA undergoes quality assessment before library preparation for NGS. The patient may resume normal activities immediately after blood collection. Report delivery is expected within 3 to 4 weeks through online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Rush processing may be available upon request for clinically urgent cases. Digital reports are delivered via the DNA Labs India online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GAA Gene NGS Genetic Test is to provide a definitive molecular diagnosis of Glycogen Storage Disease Type 2 (Pompe Disease) by identifying pathogenic or likely pathogenic mutations in the GAA gene. This test enables confirmation of clinical diagnosis, facilitates genetic counselling for affected families, guides treatment decisions including eligibility for enzyme replacement therapy (ERT) with alglucosidase alfa, allows carrier testing for family members, supports prenatal and preimplantation genetic diagnosis in at-risk families, and aids in genotype-phenotype correlation for prognostic assessment.
How to Prepare
- Ensure the patient has signed informed consent for genetic testing
- Complete the genetic counselling session and document family pedigree before sample collection
- Collect 3-5 mL peripheral blood in EDTA (Lavender Top) vacutainer under aseptic conditions
- Alternatively, collect one drop of blood on an FTA card and allow to dry completely
- Label the sample accurately with patient name, date of birth, sample ID, and date of collection
- Store the EDTA blood sample at 2-8 degrees Celsius until dispatch
- Ship the sample to the laboratory at ambient room temperature within 48 hours of collection
- Include completed test requisition form with clinical history and family details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Pompe Disease is a progressive lysosomal storage disorder that can present from infancy to adulthood. Early genetic diagnosis through NGS-based testing of the GAA gene allows for timely initiation of enzyme replacement therapy (ERT), which can significantly improve patient outcomes. I recommend this test for any individual presenting with unexplained proximal muscle weakness, hypertrophic cardiomyopathy in infants, or elevated creatine kinase levels, particularly when there is a family history suggestive of autosomal recessive inheritance. Genetic counselling should accompany testing to help families understand inheritance patterns and recurrence risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labeling
- Clotted or hemolyzed blood sample in EDTA tube
- Sample collected more than 7 days prior to receipt without proper refrigeration
- Insufficient sample volume for DNA extraction
- Missing or incomplete test requisition form
- FTA card with visible mold contamination or moisture damage
Understanding Your Results
Confirms molecular diagnosis of Glycogen Storage Disease Type 2 (Pompe Disease). Correlate with clinical phenotype and enzyme activity. Initiate appropriate management including ERT evaluation.
Pathogenic / Diagnostic
Probable diagnosis of Pompe Disease. Further functional studies, enzyme activity assay, or family segregation analysis recommended to classify the VUS.
Likely Pathogenic / Requires further evaluation
Individual is a carrier of Pompe Disease. Typically not affected but may have reduced enzyme levels. Genetic counselling recommended for family planning.
Carrier status
Results are inconclusive for Pompe Disease. Clinical correlation, enzyme activity testing, and family studies are recommended. Re-analysis may be warranted as new data becomes available.
Uncertain / Requires follow-up
Pompe Disease due to GAA gene mutations is unlikely based on the regions tested. If clinical suspicion remains high, consider enzyme activity assay, alternative genetic etiologies, or repeat testing with expanded panel.
Negative / Does not fully exclude disease
Consult a medical geneticist or metabolic disease specialist if the test identifies any pathogenic variant, likely pathogenic variant, or variant of uncertain significance in the GAA gene. Immediate medical consultation is advised for infants with suspected infantile-onset Pompe Disease presenting with cardiomyopathy, hypotonia, or respiratory distress. For late-onset symptoms such as progressive muscle weakness or respiratory insufficiency, early referral to a specialist experienced in lysosomal storage disorders is recommended to discuss enzyme replacement therapy options and long-term management strategies.
Limitations
- ⚠This test may not detect large genomic rearrangements, deep intronic variants, or variants in regulatory regions outside the targeted sequencing regions
- ⚠Variants of uncertain significance (VUS) may be identified and require clinical correlation and family studies for interpretation
- ⚠Mosaicism at low levels below the detection threshold of NGS may not be identified
- ⚠This test does not replace enzyme activity assay for functional confirmation of diagnosis in equivocal cases
- ⚠Copy number variations (CNVs) detection sensitivity may vary depending on the specific region and coverage depth
Risks & Considerations
- ●Minimal risk associated with blood collection, including slight pain or bruising at the venipuncture site
- ●Risk of psychological distress upon receiving a positive diagnosis, for which genetic counselling support is provided
- ●Potential identification of variants of uncertain significance (VUS) that may cause anxiety without clear clinical guidance
- ●Risk of incidental findings related to consanguinity or unexpected family relationships revealed through genetic analysis
Interfering Factors
- ●Recent blood transfusion within the past 4 weeks may affect DNA quality and results
- ●Degraded or insufficient DNA quality due to improper sample storage or handling
- ●Presence of a pseudogene (GAA pseudogene on chromosome 17) may complicate variant calling in certain regions if not adequately addressed by the bioinformatics pipeline
- ●Contamination of sample with exogenous DNA may compromise sequencing accuracy
Compare With Similar Tests
| Test | GAA Gene Glycogen storage disease type 2 NGS Genetic Test | GAA Enzyme Activity Assay (Dried Blood Spot) | Sanger Sequencing of GAA Gene | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | GAA Gene Glycogen storage disease type 2 NGS Genetic Test | Measures functional GAA enzyme activity directly. Useful as an initial screening tool but may have false positives due to enzyme instability. NGS genetic test provides definitive molecular confirmation and identifies specific mutations for genotype-phenotype correlation. | Traditional sequencing method that examines one exon at a time. Lower throughput and higher per-base cost compared to NGS. NGS offers comprehensive parallel sequencing of all exons with higher sensitivity and efficiency. | Analyzes all protein-coding genes across the genome. More comprehensive but generates more incidental findings. Targeted GAA gene NGS test is more focused, cost-effective, and specifically designed for Pompe Disease diagnosis. |
Frequently Asked Questions
What is the GAA Gene Glycogen Storage Disease Type 2 NGS Genetic Test?
What is Pompe Disease and how does it affect the body?
What is the cost of the GAA Gene NGS Genetic Test in India?
What sample types are accepted for this genetic test?
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Is the GAA Gene NGS Genetic Test accurate and reliable?
Do I need a doctor's prescription or referral for this test?
Is fasting required before giving a blood sample for this test?
Can this test be used for carrier screening or prenatal diagnosis?
What do the results of this test mean?
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