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DNA Labs India

Connexin 26 Mutation Detection Test

DNA Labs India | ISO 9001:2015 Certified

Connexin 26 Mutation Detection Test

Short Name: Connexin 26 Test

Also known as: GJB2 Gene Mutation Test, Connexin 26 Gene Test, Hearing Loss Genetic Test

Connexin 26 Mutation Detection Test test available at DNA Labs India for ₹10,500. Uses Polymerase Chain Reaction (PCR) on Whole Blood samples. Results in Results are typically available within 13 working days after sample receipt.. Free home collection in 300+ cities across India.

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 7, 2026

Overview

To detect mutations in the GJB2 gene associated with Connexin 26-related hearing loss, aiding in the diagnosis and management of genetic hearing impairment.

Test Code
348
Price
₹10,500
Sample Type
Whole Blood
Result Time
Results are typically available within 13 working days after sample receipt.
Fasting Required
No
Method
Polymerase Chain Reaction (PCR)
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled. No fasting required.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample of 4 mL is collected via venipuncture into an EDTA tube. Minimal discomfort expected.

Step 3

Report Delivery

The sample is shipped refrigerated to the laboratory. Avoid freezing.

Timeline: Results are typically available within 13 working days after sample receipt.

Patient Instructions

1
Before the Test:No special preparation needed. Ensure requisition form is completed and signed by a physician.
2
During the Test:Simple blood draw procedure taking a few minutes.
3
After the Test:Wait for results as per turnaround time. Follow up with your healthcare provider for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the GJB2 gene associated with Connexin 26-related hearing loss, aiding in the diagnosis and management of genetic hearing impairment.

How to Prepare

  • Collect 4 mL whole blood in a Lavender top (EDTA) tube.
  • Ship refrigerated. Do not freeze.
  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Doctor's Notes

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

"Genetic testing for Connexin 26 mutations is crucial for early diagnosis and management of hearing loss in newborns, enabling timely interventions like hearing aids or cochlear implants."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume4 mL (2 mL min.)
ContainerLavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Refrigerator (2-8°C)
Room Temperature
Frozen
Sample Rejection Criteria:
  • Sample collected in incorrect container
  • Frozen sample
  • Inadequate sample volume (<2 mL)
  • Missing or incomplete requisition form
  • Severely hemolyzed or lipemic sample

Understanding Your Results

Test results indicate the presence or absence of mutations in the GJB2 gene. A positive result confirms a genetic cause for hearing loss, while a negative result suggests other etiologies may need exploration.
Positive Result: Pathogenic mutation detected. Consult a genetic counselor for family implications and management options.
Negative Result: No pathogenic mutation detected. Clinical correlation with audiological findings is essential.
Variant of Uncertain Significance (VUS): Mutation found but significance unknown. Repeat testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

Consult an ENT specialist or geneticist if you experience symptoms of hearing loss, have a family history of hearing impairment, or after receiving test results for further guidance.

Limitations

  • ⚠May not detect all types of GJB2 mutations
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not replace comprehensive audiological evaluation
  • ⚠Limited to known mutations in the GJB2 gene

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Risk of infection (very low)
  • ●Potential emotional distress from genetic results
  • ●No significant medical risks from the test itself

Interfering Factors

  • ●Contaminated DNA sample
  • ●Degraded sample quality
  • ●Incorrect sample collection or storage
  • ●Presence of other genetic variants not targeted

Compare With Similar Tests

TestConnexin 26 Mutation Detection TestGJB6 Mutation TestOtoSeq Hearing Loss PanelWhole Exome Sequencing
ComparisonConnexin 26 Mutation Detection Test

Frequently Asked Questions

What is the Connexin 26 mutation detection test?
It is a genetic test to identify mutations in the GJB2 gene that can cause hearing loss, offered by DNA Labs India.
Who should take this test?
Newborns failing hearing screening, individuals with a family history of hearing loss, or those with symptoms like delayed speech development.
How is the test performed?
Through DNA analysis from a blood sample, typically collected via venipuncture.
What is the cost of the test?
The test costs INR 10500 at DNA Labs India, including analysis and genetic counseling.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available within 13 working days after sample receipt.
What does a positive result mean?
A positive result indicates a genetic mutation in the GJB2 gene causing hearing loss; consult a genetic counselor for management.
Is the test covered by insurance?
It may be covered; many insurance providers cover genetic testing for hearing loss, especially for newborns. Check with your provider.
What are the symptoms of Connexin 26 mutation?
Symptoms include delayed or absent speech development, difficulty understanding speech in noise, and need for increased volume on devices.
How accurate is the test?
The test is highly accurate for detecting known mutations in the GJB2 gene using PCR technology.
Can this test be done for adults?
Yes, the test is suitable for individuals of all ages with relevant indications such as family history or symptoms.
What should I do after getting the results?
Discuss results with a healthcare provider or genetic counselor for further evaluation and management options.
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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