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GJB2 Gene Knuckle pads and leukonychia sensorineural deafness NGS Genetic Test

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GJB2 Gene Knuckle pads and leukonychia sensorineural deafness NGS Genetic Test

Short Name: GJB2 Gene Deafness Test

Also known as: GJB2 mutation disorder, Sensorineural deafness with skin findings, Knuckle pads and leukonychia syndrome

GJB2 Gene Knuckle pads and leukonychia sensorineural deafness 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.

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 7, 2026

Overview

To diagnose GJB2 gene mutations causing sensorineural deafness with associated skin findings like knuckle pads and leukonychia, aiding in clinical management and genetic counseling.

Test Code
2340
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

No specific preparation needed; provide clinical history and family pedigree for accurate analysis.

Method: Venipuncture or FTA Card Spot

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card spot by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site; avoid heavy lifting for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand implications and discuss family history.
2
During the Test:Sample collection is quick, minimally invasive, and performed by certified staff.
3
After the Test:Await report; schedule follow-up with physician for result discussion.

About This Test

Who Should Get This Test

To diagnose GJB2 gene mutations causing sensorineural deafness with associated skin findings like knuckle pads and leukonychia, aiding in clinical management and genetic counseling.

How to Prepare

  • Fasting not required
  • Bring valid ID and doctor's prescription
  • Inform lab about any medications or supplements

Doctor's Notes

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

"This test is vital for early detection of genetic hearing loss with skin manifestations, enabling targeted management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or FTA Card Spot

Sample Stability

Blood sample: stable for 48 hours at room temperature
FTA card: stable for several weeks if stored properly
Sample Rejection Criteria:
  • Sample hemolyzed or clotted
  • Incorrect sample type
  • Missing patient information or consent

Understanding Your Results

Results are interpreted based on the presence of pathogenic variants in the GJB2 gene, correlated with clinical symptoms.
Pathogenic variant detected: confirms diagnosis of GJB2-related disorder
No pathogenic variant detected: reduces likelihood but does not exclude other genetic causes
Variant of uncertain significance: may require additional testing or family studies
⚠️ When to Consult a Doctor:

If hearing loss is progressive, skin/nail abnormalities worsen, or if family planning is affected, consult a geneticist or ENT specialist promptly.

Limitations

  • ⚠May not detect all rare mutations in GJB2
  • ⚠Does not analyze other genes associated with similar phenotypes
  • ⚠Requires genetic counseling for interpretation
  • ⚠Variant of uncertain significance may need follow-up

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, slight pain, rare infection

Interfering Factors

  • ●Hemolyzed blood sample
  • ●Contaminated DNA extract
  • ●Insufficient sample volume
  • ●Improper sample storage

Compare With Similar Tests

TestGJB2 Gene Knuckle pads and leukonychia sensorineural deafness NGS Genetic TestGJB6 Gene Mutation AnalysisConnexin 26 Gene TestWhole Exome SequencingAuditory Brainstem Response (ABR) Test
ComparisonGJB2 Gene Knuckle pads and leukonychia sensorineural deafness NGS Genetic TestFocuses on another gene for non-syndromic hearing lossOften used interchangeably but may have different scopeBroader analysis of all genes, higher costFunctional hearing assessment, not genetic

Frequently Asked Questions

What is the GJB2 Gene Test?
It is an NGS-based genetic test to detect mutations in the GJB2 gene associated with sensorineural deafness, knuckle pads, and leukonychia.
What symptoms indicate a need for this test?
Symptoms include hearing loss, thickening of skin on knuckles, white nail patches, abnormal hair/nail growth, and dry skin.
How is the test performed?
A blood sample or saliva is collected and analyzed using Next-Generation Sequencing to identify gene mutations.
What is the cost of the GJB2 Gene Test?
The test costs INR 20000, including sample collection, analysis, and report generation.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test painful?
The procedure involves a standard blood draw, which may cause minor discomfort but is generally painless.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What if the test result is positive?
A positive result confirms a GJB2 gene mutation; consult a geneticist for management and counseling.
How accurate is the NGS test?
NGS technology is highly accurate for detecting mutations, but interpretation requires expert genetic analysis.
Do I need a doctor's prescription?
Yes, a prescription or referral from a healthcare provider is recommended for testing.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications and results.
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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