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DNA Labs India

Connexin 30 Mutation Detection Test

DNA Labs India | ISO 9001:2015 Certified

Connexin 30 Mutation Detection Test

Short Name: Connexin 30 Mutation Test

Also known as: GJB6 Mutation Test, Connexin 30 Genetic Test, Hereditary Hearing Loss Genetic Test

Connexin 30 Mutation Detection Test test available at DNA Labs India for ₹8,000. Uses PCR, DNA Sequencing on Whole blood samples. Results in Reports are typically available within 3-5 working days after sample receipt at the laboratory.. Free home collection in 300+ cities across India.

Diagnostic 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 GJB6 gene that cause connexin 30-related hearing loss for diagnostic and counseling purposes.

Test Code
346
Price
₹8,000
Sample Type
Whole blood
Result Time
Reports are typically available within 3-5 working days after sample receipt at the laboratory.
Fasting Required
No
Method
PCR, DNA Sequencing
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and signed.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from a vein in your arm.

Step 3

Report Delivery

The sample will be labeled, processed, and shipped refrigerated to the laboratory for analysis.

Timeline: Reports are typically available within 3-5 working days after sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No specific preparation is required, but ensure all necessary forms are completed.
2
During the Test:The test involves a simple blood draw procedure.
3
After the Test:Results will be available online; a genetic counselor can help interpret them.

About This Test

Who Should Get This Test

To detect mutations in the GJB6 gene that cause connexin 30-related hearing loss for diagnostic and counseling purposes.

How to Prepare

  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Collect 4 mL (2 mL min.) whole blood in a Lavender top (EDTA) tube.
  • Ship refrigerated. DO NOT FREEZE.
  • For same-day processing, ensure sample is collected by 11 am.

Doctor's Notes

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

"Genetic testing for Connexin 30 mutations is crucial for early diagnosis of hereditary hearing loss, enabling timely intervention, hearing management, and family planning counseling."

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: 1 week
Room temperature: Not recommended
Frozen: Not recommended
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient blood volume
  • Incorrect container type
  • Missing or incomplete requisition form

Understanding Your Results

Results indicate whether pathogenic mutations in the GJB6 gene are detected, helping diagnose connexin 30-related hearing loss.
Mutation detected: Indicates presence of a pathogenic GJB6 variant; genetic counseling recommended for management and family risk assessment.
No mutation detected: Suggests no identified pathogenic variants in the GJB6 gene, but other genetic or non-genetic causes of hearing loss may exist.
Variant of uncertain significance (VUS): Requires further testing, family studies, or clinical correlation for clarification.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience hearing loss, tinnitus, or have a family history of hereditary hearing disorders for evaluation and potential genetic testing.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Not a standalone diagnostic tool; clinical correlation is needed

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection
  • ●Possibility of fainting during blood collection

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Technical errors in sequencing

Frequently Asked Questions

What is the Connexin 30 Mutation Detection Test?
It is a genetic test that analyzes the GJB6 gene to detect mutations associated with connexin 30 protein dysfunction, which can cause hearing loss.
Why is this test recommended?
This test is recommended for diagnosing hereditary hearing loss, especially when there is a family history or symptoms like tinnitus, to guide treatment and genetic counseling.
Who should consider getting this test?
Individuals with unexplained hearing loss, a family history of genetic hearing disorders, failed newborn hearing screens, or those seeking genetic counseling for family planning.
What is the cost of the Connexin 30 Mutation Detection Test at DNA Labs India?
The cost is INR 8000, which includes sample collection, genetic counseling, and the test report.
How is the test performed?
The test uses PCR and DNA sequencing techniques on a blood sample to analyze the GJB6 gene for mutations.
What sample is required for the test?
A 4 mL blood sample collected in an EDTA tube is required, with proper handling and refrigeration.
How long does it take to get the results?
Results are usually available within 3-5 working days after the sample reaches the laboratory.
What do the test results indicate?
Results show whether pathogenic mutations in the GJB6 gene are detected, helping diagnose connexin 30-related hearing loss.
Is genetic counseling provided with the test?
Yes, DNA Labs India includes genetic counseling consultation as part of the test package to help interpret results and plan next steps.
Are there any risks associated with the test?
Risks are minimal and related to the blood draw, such as minor bruising or discomfort, but serious complications are rare.
How can I book the Connexin 30 Mutation Detection Test?
You can book the test online through DNA Labs India's website or contact us via phone or WhatsApp for assistance.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage depends on the specific scheme and individual eligibility; it is advisable to check with the respective authorities or your insurance provider.
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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