GJB6 Gene Deafness, autosomal recessive type 1B NGS Genetic Test
Short Name: GJB6 Gene Deafness NGS Test
Also known as: DFNB1B Genetic Test, GJB6 Mutation Analysis, Connexin 30 Gene Test
GJB6 Gene Deafness, autosomal recessive type 1B 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the GJB6 Gene Deafness NGS Genetic Test is to identify pathogenic mutations in the GJB6 gene responsible for autosomal recessive deafness type 1B (DFNB1B). It aids in confirming clinical diagnosis, assessing carrier status in unaffected individuals, guiding management strategies, and providing information for genetic counselling and family planning.
- Test Code
- 2326
- 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)
Sample Collection
No special preparation is required. Genetic counselling is recommended before testing.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected via venipuncture by a trained phlebotomist. For FTA cards, one drop of blood is applied.
Report Delivery
The sample is processed for DNA extraction and subsequent NGS analysis. Results are reviewed by a geneticist.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GJB6 Gene Deafness NGS Genetic Test is to identify pathogenic mutations in the GJB6 gene responsible for autosomal recessive deafness type 1B (DFNB1B). It aids in confirming clinical diagnosis, assessing carrier status in unaffected individuals, guiding management strategies, and providing information for genetic counselling and family planning.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples accurately with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for GJB6 mutations can aid in timely intervention and management of hereditary deafness, especially in families with a history of hearing loss."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing documentation
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of GJB6-related deafness; indicates affected status or carrier state depending on zygosity.
Negative
No pathogenic variants detected; reduces likelihood of GJB6-related deafness but does not exclude other genetic causes.
Variant of uncertain significance (VUS)
Genetic variant identified with unknown clinical significance; requires further evaluation and genetic counselling.
Consult a geneticist or ENT specialist if symptoms of hearing loss are present, for carrier testing in families with a history of deafness, or for prenatal planning based on test results.
Limitations
- ⚠May not detect all possible variants in the GJB6 gene
- ⚠Variants of uncertain significance (VUS) may be reported
- ⚠Results require clinical correlation and genetic counselling
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●No significant genetic risks from the test itself
Interfering Factors
- ●Degraded DNA quality
- ●Sample contamination
- ●Hemolyzed blood specimens
Compare With Similar Tests
| Test | GJB6 Gene Deafness, autosomal recessive type 1B NGS Genetic Test | GJB2 Gene Deafness Test | Comprehensive Deafness Gene Panel | Auditory Brainstem Response (ABR) Test | Sanger Sequencing for GJB6 |
|---|---|---|---|---|---|
| Comparison | GJB6 Gene Deafness, autosomal recessive type 1B NGS Genetic Test | Focuses on connexin 26 gene; commonly tests for DFNB1A deafness. | Analyzes multiple genes associated with hearing loss, including GJB6, GJB2, and others. | A functional hearing assessment, not a genetic test. | Targets specific mutations; less comprehensive than NGS but faster for known variants. |
Frequently Asked Questions
What is the GJB6 Gene Deafness NGS Genetic Test?
What is the cost of this test in India?
Who should undergo this test?
How is the sample collected?
What is the turnaround time for results?
What does a positive result mean?
Can carriers of the mutation have symptoms?
Is genetic counselling required before testing?
What are the risks of this test?
How accurate is the NGS method for detecting GJB6 mutations?
Can this test be used for prenatal diagnosis?
What should I do after receiving the results?
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₹20,000Reference 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.
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