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DNA Labs India

GLA Gene Fabry disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GLA Gene Fabry disease NGS Genetic Test

Short Name: Fabry Disease NGS Test

Also known as: Fabry Disease Genetic Test, GLA Gene Mutation Analysis, Alpha-galactosidase A Gene Test

GLA Gene Fabry 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 Reports are typically available within 3 to 4 weeks.. Free home collection in 300+ cities across India.

NGS Genetic TestMale/Female🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the GLA gene that cause Fabry disease, enabling accurate diagnosis, carrier detection, and informed management decisions.

Test Code
1976
ICD Code
E75.2
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation is required. Inform the lab about any medications or recent treatments.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bleeding. Avoid strenuous activity with the arm for a few hours.

Timeline: Reports are typically available within 3 to 4 weeks.

Patient Instructions

1
Before the Test:Inform the healthcare provider about any medical history or ongoing medications.
2
During the Test:The test involves a simple blood draw or DNA sample collection.
3
After the Test:No specific restrictions; resume normal activities.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the GLA gene that cause Fabry disease, enabling accurate diagnosis, carrier detection, and informed management decisions.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for collection
  • Label the sample correctly with patient details

Doctor's Notes

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

"Early genetic testing for Fabry disease can lead to timely interventions and improved patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume
  • Sample improperly labeled or contaminated
  • Hemolyzed or clotted blood samples

Understanding Your Results

Test results indicate the presence or absence of mutations in the GLA gene associated with Fabry disease.
Positive: Pathogenic variant(s) detected, confirming Fabry disease or carrier status.
Negative: No pathogenic variants found, but clinical correlation is advised if symptoms persist.
Variant of Uncertain Significance (VUS): Further testing and family studies may be required.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of Fabry disease or if you have a family history of the condition. Genetic counseling is recommended before and after testing.

Limitations

  • May not detect all types of mutations, such as large deletions
  • Requires genetic counseling for proper interpretation
  • False negatives are possible but rare

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection at the puncture site

Interfering Factors

  • Contaminated or degraded DNA samples
  • Recent blood transfusions may affect DNA analysis
  • Hemolyzed samples can interfere with results

Compare With Similar Tests

TestGLA Gene Fabry disease NGS Genetic TestAlpha-galactosidase A Enzyme AssayGb3 Level MeasurementKidney Biopsy
ComparisonGLA Gene Fabry disease NGS Genetic Test

Frequently Asked Questions

What is GLA Gene Fabry disease?
Fabry disease is a rare genetic disorder caused by mutations in the GLA gene, leading to deficiency of the enzyme alpha-galactosidase A and accumulation of globotriaosylceramide (Gb3) in cells.
What are the common symptoms of Fabry disease?
Symptoms include pain and burning sensations in hands and feet, skin rashes (angiokeratomas), hearing loss, gastrointestinal issues, and heart problems.
How is Fabry disease diagnosed?
Diagnosis involves blood tests for enzyme levels, genetic testing for GLA gene mutations, and sometimes biopsies.
What is the cost of the NGS Genetic Test in India?
The cost is INR 20,000 at DNA Labs India, with home sample collection available.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What does a positive test result mean?
A positive result indicates the presence of a GLA gene mutation, confirming Fabry disease or carrier status, and requires further medical consultation.
Can the test detect female carriers?
Yes, genetic testing can identify carrier females, though they may have variable symptoms.
Is genetic counseling recommended before the test?
Yes, genetic counseling is advised to understand the implications of the test and to discuss family history.
What is the accuracy of NGS testing for Fabry disease?
NGS testing is highly accurate for detecting point mutations and small insertions/deletions in the GLA gene.
Are there any preparations needed for the test?
No specific preparations are required, but inform the lab about any recent blood transfusions or medications.
How do I book the test with DNA Labs India?
You can book the test online through our website or by contacting our customer service for assistance.
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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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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