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GAA Gene Pompe disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GAA Gene Pompe disease NGS Genetic Test

Also known as: Glycogen Storage Disease Type II, Acid Maltase Deficiency

GAA Gene Pompe disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the GAA gene to diagnose Pompe disease, confirm clinical suspicion, or for carrier testing in families at risk.

Test Code
2212
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counselling session to draw a pedigree chart of family members affected with Pompe disease.

Method: Blood Draw

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history of the patient and undergo a genetic counselling session to draw a pedigree chart of family members affected with Pompe disease.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the GAA gene to diagnose Pompe disease, confirm clinical suspicion, or for carrier testing in families at risk.

How to Prepare

  • Collect blood sample via venipuncture from the patient
  • Alternatively, use extracted DNA or one drop of blood on an FTA card for sample submission

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for GAA gene mutations is essential for diagnosing Pompe disease, especially in families with a history of metabolic disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled or stored samples

Understanding Your Results

Results of the GAA gene sequencing test indicate the presence or absence of mutations associated with Pompe disease, guiding diagnosis and management.
📊

No pathogenic variants detected

No mutations found in the GAA gene; low likelihood of Pompe disease based on genetic testing, but clinical correlation is advised.

📊

Pathogenic variant(s) detected

Mutations identified that are known to cause Pompe disease; confirms diagnosis in symptomatic individuals and aids in family screening.

📊

Variant of uncertain significance (VUS)

A genetic change was found but its clinical significance is unknown; further testing, family studies, or genetic counselling recommended.

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if symptoms suggest Pompe disease, after receiving test results for appropriate management, or for genetic counselling regarding family planning.

Limitations

  • ⚠May not detect all possible genetic mutations in the GAA gene
  • ⚠Variants of uncertain significance (VUS) may be identified
  • ⚠Does not directly assess GAA enzyme activity; complementary tests may be needed

Risks & Considerations

  • ●Psychological impact of uncertain or positive results
  • ●Potential for inconclusive findings requiring additional testing

Interfering Factors

  • ●DNA degradation due to improper storage
  • ●Sample contamination
  • ●Use of incorrect sample type or volume

Compare With Similar Tests

TestGAA Gene Pompe disease NGS Genetic TestGAA Enzyme Activity AssayMuscle Biopsy
ComparisonGAA Gene Pompe disease NGS Genetic Test

Frequently Asked Questions

What is Pompe disease?
Pompe disease is a rare genetic disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA), leading to glycogen buildup in muscles and organs, resulting in muscle weakness and organ damage.
What causes Pompe disease?
Pompe disease is caused by mutations in the GAA gene, which is responsible for producing the GAA enzyme. It is inherited in an autosomal recessive pattern.
What are the symptoms of Pompe disease?
Symptoms include muscle weakness, fatigue, difficulty breathing, enlarged heart, difficulty swallowing, poor muscle tone, and delayed motor skills, varying from mild to life-threatening.
How is Pompe disease diagnosed?
Diagnosis involves blood tests for GAA enzyme levels, genetic testing for GAA gene mutations, and sometimes muscle biopsy to confirm glycogen accumulation.
What is the GAA gene?
The GAA gene provides instructions for making the acid alpha-glucosidase enzyme, which breaks down glycogen in lysosomes. Mutations in this gene lead to Pompe disease.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a high-throughput method that analyzes DNA sequences to identify mutations in genes like GAA, offering comprehensive and cost-effective genetic analysis.
How much does the GAA gene Pompe disease NGS test cost?
The cost of the GAA Gene Pompe Disease NGS Genetic Test at DNA Labs India is INR 20,000, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India, including Mumbai, Delhi, Bangalore, and more.
How long does it take to get the test results?
Test reports are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What do the test results mean?
Results may show no pathogenic variants, pathogenic variants confirming Pompe disease, or variants of uncertain significance requiring further interpretation by a genetic specialist.
Can this test be used for carrier testing?
Yes, the test can identify carriers of GAA gene mutations, useful for family planning and assessing risk in relatives of affected individuals.
What should I do if the test is positive?
If pathogenic variants are detected, consult a geneticist or metabolic specialist for confirmation, management options like enzyme replacement therapy, and genetic counselling for family members.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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