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DNA Labs India

GJB2 Gene Deafness, autosomal recessive type 1A NGS Genetic Test

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GJB2 Gene Deafness, autosomal recessive type 1A NGS Genetic Test

Short Name: GJB2 Deafness NGS Test

Also known as: Autosomal Recessive Type 1A Deafness, GJB2-Related Hearing Loss

GJB2 Gene Deafness, autosomal recessive type 1A 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose GJB2 gene-related autosomal recessive deafness through comprehensive NGS analysis, identifying pathogenic mutations for accurate clinical management.

Test Code
2324
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session to review clinical history and pedigree chart. Provide relevant medical records.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Sample collection via venipuncture or FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample securely transported to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with genetic counselor and provide detailed clinical and family history.
2
During the Test:Sample collection followed by laboratory NGS sequencing and analysis.
3
After the Test:Report generation within 3-4 weeks, with counseling for result interpretation.

About This Test

Who Should Get This Test

To diagnose GJB2 gene-related autosomal recessive deafness through comprehensive NGS analysis, identifying pathogenic mutations for accurate clinical management.

How to Prepare

  • Ensure proper labeling of sample
  • Use aseptic techniques for blood draw
  • Store FTA card samples at room temperature

Doctor's Notes

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

"Early genetic testing for GJB2 gene mutations is crucial for timely management of hearing loss, enabling personalized treatment and improved outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GJB2 gene associated with autosomal recessive deafness.
📊

Negative

No pathogenic variants detected; lower likelihood of GJB2-related deafness

📊

Positive

Pathogenic variant(s) identified; consistent with GJB2 gene deafness, requiring clinical correlation

⚠️ When to Consult a Doctor:

If experiencing hearing loss, have a family history of deafness, or after receiving positive test results for further evaluation and management.

Frequently Asked Questions

What is GJB2 gene deafness?
It is a genetic disorder caused by mutations in the GJB2 gene, leading to autosomal recessive type 1A deafness affecting connexin 26 protein function.
How is the NGS genetic test performed?
The test uses next-generation sequencing to analyze multiple genes, including GJB2, from a blood or DNA sample.
What is the cost of the test in India?
The cost is approximately INR 20,000, which may include consultation and lab analysis.
Is home sample collection available?
Yes, free home sample collection is offered across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What are the common symptoms of GJB2 gene deafness?
Symptoms include difficulty hearing speech, frequent ear infections, tinnitus, and delayed speech development in children.
Who should consider this test?
Individuals with hearing loss, family history of deafness, or abnormal newborn hearing screenings.
What is the accuracy of the NGS test?
NGS provides high accuracy for detecting genetic variants, but results should be interpreted clinically.
Are there any risks associated with the test?
Risks are minimal, similar to any blood draw, with no direct genetic risks from testing.
How do I prepare for the test?
Prepare by providing clinical history and undergoing genetic counseling prior to sample collection.
What does a positive result mean?
A positive result indicates pathogenic variants in the GJB2 gene, suggesting a diagnosis of GJB2-related deafness.
Can this test be done for newborns?
Yes, it can be performed on newborns using blood samples for early diagnosis.
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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