Skip to main content
DNA Labs India

GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test

Short Name: GJB6 EDH NGS Test

Also known as: Clouston syndrome, EDH

GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 identify mutations in the GJB6 gene for accurate diagnosis of ectodermal dysplasia, hidrotic, enabling appropriate management and genetic counseling.

Test Code
4905
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling session to draw a pedigree chart.

Method: Venipuncture or Buccal Swab

Step 2

Laboratory Analysis

Sample collection via blood draw or buccal swab.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Sample collection and processing for NGS analysis.
3
After the Test:Report generation and genetic counseling session.

About This Test

Who Should Get This Test

To identify mutations in the GJB6 gene for accurate diagnosis of ectodermal dysplasia, hidrotic, enabling appropriate management and genetic counseling.

How to Prepare

  • Fast if required
  • Avoid contamination
  • Label sample properly

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing ectodermal dysplasia and providing appropriate care and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Buccal Swab

Sample Stability

Blood: 2-8°C for 7 days
DNA: Stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Interpretation of GJB6 gene test results for ectodermal dysplasia, hidrotic.
📊

Positive for pathogenic variant

Confirms diagnosis of ectodermal dysplasia, hidrotic; genetic counseling recommended.

📊

Negative

No mutation detected; clinical correlation advised for further evaluation.

⚠️ When to Consult a Doctor:

If symptoms of ectodermal dysplasia are present or for family planning and genetic counseling.

Limitations

  • ⚠Test may not detect all mutations
  • ⚠Results require genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of results

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA

Compare With Similar Tests

TestGJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test
ComparisonGJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test

Frequently Asked Questions

What is GJB6 Gene Ectodermal Dysplasia, Hidrotic?
It is a rare genetic disorder caused by mutations in the GJB6 gene, affecting skin, hair, and nails, also known as Clouston syndrome.
What are the symptoms of EDH?
Symptoms include thickened skin on palms and soles, abnormal hair growth, nail abnormalities, missing teeth, reduced sweating, and eye issues.
How is EDH diagnosed?
Diagnosis involves clinical evaluation and genetic testing using NGS to identify mutations in the GJB6 gene.
What is the cost of the NGS Genetic Test in India?
The cost is INR 20,000 at DNA Labs India, with home sample collection available.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop blood on FTA card are accepted.
How long does it take to get the test results?
Results are typically available in 3-4 weeks.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What is the significance of genetic testing for EDH?
It confirms diagnosis, aids in management, and provides information for genetic counseling and family planning.
Can EDH be treated?
There is no cure, but symptoms can be managed with supportive care; early diagnosis helps in planning treatment.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer for details.
What should I do before getting tested?
Undergo genetic counseling and provide clinical history for accurate testing.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting mutations, but results should be interpreted by a genetic counselor.
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.

Related Tests

Nx Gen Sequencing: Albinism Test

₹28,665

ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test

₹20,000

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

₹20,000

KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

₹20,000

LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

₹20,000

ENPP1 Gene Cole disease NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.