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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 Sequencing, 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this test is to identify mutations in the GLA gene to diagnose Fabry disease, confirm clinical suspicion, guide treatment decisions, and facilitate family screening and genetic counseling.

Test Code
5320
ICD Code
E75.21
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

No specific preparation required. Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or a drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and draw a pedigree chart. No fasting required.
2
During the Test:Blood sample collection via venipuncture or FTA card. The process is quick and minimally invasive.
3
After the Test:Results are available in 3 to 4 weeks. Genetic counseling is provided to explain findings and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the GLA gene to diagnose Fabry disease, confirm clinical suspicion, guide treatment decisions, and facilitate family screening and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Genetic testing for Fabry disease is crucial for early diagnosis and management, especially in families with a history of X-linked disorders."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood in EDTA tube
Extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type
  • Missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GLA gene. A positive result confirms Fabry disease, while a negative result may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of Fabry disease; genetic counseling recommended

📊

Variant of uncertain significance (VUS)

Further testing and clinical correlation needed

📊

No pathogenic variant detected

Fabry disease unlikely, but consider other diagnoses if symptoms persist

⚠️ When to Consult a Doctor:

Consult a doctor if you have a family history of Fabry disease, experience symptoms like pain or skin rashes, or if test results are positive or uncertain for further management.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is Fabry disease?
Fabry disease is a rare genetic disorder caused by mutations in the GLA gene, leading to deficiency of alpha-galactosidase A enzyme and accumulation of fatty substances, causing symptoms like pain, skin rashes, and organ damage.
What does the GLA Gene Fabry Disease NGS Genetic Test involve?
This test uses next-generation sequencing (NGS) to analyze the GLA gene for mutations, providing a definitive diagnosis for Fabry disease.
Who should consider this genetic test?
Individuals with a family history of Fabry disease, those experiencing symptoms such as pain in hands and feet, skin rashes, or kidney/heart issues, and for confirmatory diagnosis.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and genetic counseling.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
A positive result indicates a mutation in the GLA gene, confirming Fabry disease. A negative result suggests no pathogenic variants, but clinical correlation is advised.
Is genetic counseling provided?
Yes, a genetic counseling session is included to help interpret results and discuss implications.
Are there any risks associated with the test?
The test involves a blood draw, which may cause minor bruising or infection risk. Emotional impact of results is also possible.
Is the test covered by insurance?
Coverage varies by insurance provider. It is recommended to check with your insurer for specific details.
Can this test be used for carrier screening?
Yes, it can identify carriers of GLA gene mutations, useful for family planning and genetic counseling.
How do I book the test?
You can book online through DNA Labs India's website or contact their 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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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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