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GJB2 Gene Keratitis ichthyosis deafness syndrome autosomal dominant NGS Genetic Test

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GJB2 Gene Keratitis ichthyosis deafness syndrome autosomal dominant NGS Genetic Test

Short Name: KID Syndrome NGS Test

Also known as: KID Syndrome, GJB2-Related Keratitis Ichthyosis Deafness Syndrome

GJB2 Gene Keratitis ichthyosis deafness syndrome autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample collection. 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 GJB2 gene for diagnosis of Keratitis Ichthyosis Deafness Syndrome (KID syndrome) and support clinical management.

Test Code
2343
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample collection
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and draw a family pedigree chart. Provide clinical history of the patient.

Method: Blood Draw or FTA Card Collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card. Procedure is minimally invasive.

Step 3

Report Delivery

Sample is processed in the laboratory for NGS analysis. Maintain sample integrity during transport.

Timeline: 3 to 4 weeks from sample collection

Patient Instructions

1
Before the Test:Consult with a healthcare provider or genetic counselor to discuss the test, its implications, and provide informed consent.
2
During the Test:A blood sample is drawn or a drop is collected on an FTA card. The process takes a few minutes.
3
After the Test:Results are available in 3 to 4 weeks. Follow-up with a doctor for interpretation and next steps.

About This Test

Who Should Get This Test

To identify mutations in the GJB2 gene for diagnosis of Keratitis Ichthyosis Deafness Syndrome (KID syndrome) and support clinical management.

How to Prepare

  • Use sterile collection tubes
  • Label samples correctly
  • Ship at ambient room temperature
  • Avoid hemolysis in blood samples

Doctor's Notes

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

"Genetic testing for KID syndrome is crucial for accurate diagnosis, targeted management, and informed family planning. This NGS-based GJB2 gene analysis provides comprehensive mutation detection that guides clinical decision-making and genetic counseling for affected individuals and their families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw or FTA Card Collection

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed samples
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Test results indicate the presence or absence of mutations in the GJB2 gene. Positive results confirm genetic basis for KID syndrome, guiding clinical management.
📊

Mutation detected

Confirms diagnosis of KID syndrome due to GJB2 gene mutation. Consult geneticist for management.

📊

No mutation detected

KID syndrome unlikely based on GJB2, but clinical symptoms may warrant further testing for other genes.

⚠️ When to Consult a Doctor:

If results are positive or uncertain, consult a geneticist or relevant specialist for personalized management, genetic counseling, and family planning advice.

Limitations

  • ⚠May not detect all types of mutations in the GJB2 gene
  • ⚠Results require clinical correlation for diagnosis
  • ⚠Does not rule out other genetic causes of similar symptoms

Risks & Considerations

  • ●Minimal risks such as bruising at blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further investigation

Interfering Factors

  • ●Poor sample quality
  • ●Contaminated DNA
  • ●Recent blood transfusions may affect results

Compare With Similar Tests

TestGJB2 Gene Keratitis ichthyosis deafness syndrome autosomal dominant NGS Genetic TestSanger Sequencing for GJB2Whole Exome SequencingChromosomal MicroarrayPanel Testing for Ichthyosis
ComparisonGJB2 Gene Keratitis ichthyosis deafness syndrome autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is KID syndrome?
KID syndrome (Keratitis Ichthyosis Deafness syndrome) is a rare genetic disorder causing skin, eye, and ear abnormalities due to mutations in the GJB2 gene, which encodes the connexin-26 protein.
How is KID syndrome inherited?
KID syndrome typically follows an autosomal dominant inheritance pattern, meaning one copy of the mutated GJB2 gene from a single parent is sufficient to cause the condition. In some cases, it may also arise as a de novo mutation.
What are the symptoms of KID syndrome?
Common symptoms include ichthyosis (dry, scaly, thickened skin), keratitis (corneal inflammation leading to vision impairment), and sensorineural hearing loss. Patients may also experience hair loss, nail abnormalities, and dental issues.
How is KID syndrome diagnosed?
Diagnosis involves a thorough clinical evaluation of skin, eye, and ear symptoms, combined with genetic testing to identify pathogenic mutations in the GJB2 gene. NGS-based testing provides the most comprehensive analysis.
What does the NGS genetic test involve?
The NGS (Next-Generation Sequencing) genetic test uses advanced sequencing technology to analyze the entire GJB2 gene for mutations. It requires a blood sample or DNA extracted from an FTA card and provides highly accurate results.
What is the cost of the GJB2 gene KID syndrome NGS test?
The GJB2 Gene KID Syndrome NGS Genetic Test costs INR 20000 at DNA Labs India. This includes sample collection, NGS analysis, genetic counseling support, and report generation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India. You can schedule a convenient time for a trained phlebotomist to collect the sample at your doorstep.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from the date of sample collection. Reports can be accessed via the online portal, email, or WhatsApp.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
What should I do if the test result is positive?
If the test confirms a GJB2 gene mutation, consult a clinical geneticist or relevant specialist for comprehensive management, genetic counseling, family planning guidance, and coordinated multidisciplinary care.
Can this test be used for prenatal diagnosis?
While this specific NGS test is typically used for diagnostic purposes, prenatal testing for KID syndrome may be possible through specialized prenatal genetic testing methods after appropriate genetic counseling.
Are there any risks associated with this genetic test?
Physical risks are minimal and limited to minor bruising at the blood draw site. There may be psychological impacts related to receiving genetic results. Genetic counseling is recommended before and after testing.
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.

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✓ 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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