GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test
Short Name: GJB3 EKVP NGS Test
Also known as: EKVP Genetic Test, GJB3 Mutation Analysis, Erythrokeratodermia Variabilis et Progressive Genetic Test
GJB3 Gene Erythrokeratodermia variabilis et progressive 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
To diagnose Erythrokeratodermia variabilis et progressive (EKVP) by identifying pathogenic mutations in the GJB3 gene using next-generation sequencing, aiding in confirmatory diagnosis, genetic counseling, and family planning.
- Test Code
- 4928
- 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
Provide clinical history and undergo genetic counseling as per pre-test information requirements.
Method: Venipuncture or Saliva Collection
Laboratory Analysis
Sample collection via blood draw or saliva collection in a sterile environment.
Report Delivery
Sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Erythrokeratodermia variabilis et progressive (EKVP) by identifying pathogenic mutations in the GJB3 gene using next-generation sequencing, aiding in confirmatory diagnosis, genetic counseling, and family planning.
How to Prepare
- Fasting is not required
- Avoid contamination of the sample
- Ensure proper labeling with patient details
- Follow instructions for FTA card if used
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is crucial for confirming EKVP diagnosis and guiding family planning, especially for couples with a family history of genetic skin disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or documentation
Understanding Your Results
Positive
Pathogenic mutation detected in GJB3 gene, consistent with EKVP diagnosis. Genetic counseling recommended.
Negative
No pathogenic mutations detected. Clinical correlation advised if symptoms persist.
Variant of Uncertain Significance
A genetic variant was detected but its clinical significance is unknown. Further testing or family studies may be needed.
If symptoms persist, worsen, or if there is a family history of EKVP, consult a dermatologist or genetic counselor for further evaluation and management.
Limitations
- ⚠May not detect all possible mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal physical risk from sample collection
- ●Potential psychological impact of genetic results
- ●Risk of misinterpretation without professional guidance
Interfering Factors
- ●Poor sample quality
- ●Contamination
- ●Technical errors during sequencing
Compare With Similar Tests
| Test | GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test | Skin Biopsy | Sanger Sequencing |
|---|---|---|---|
| Comparison | GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test | Invasive procedure that shows histological changes like hyperkeratosis but does not identify genetic mutations. | Less comprehensive than NGS; may miss novel or multiple mutations in the GJB3 gene. |
Frequently Asked Questions
What is Erythrokeratodermia variabilis et progressive (EKVP)?
What causes EKVP?
How is EKVP diagnosed?
What is the GJB3 gene?
What does the NGS genetic test involve?
How accurate is the GJB3 gene test?
What are the symptoms of EKVP?
Is there a treatment for EKVP?
How long does it take to get the test results?
What is the cost of the GJB3 gene test?
Is home sample collection available for this test?
What should I do if my test results are positive?
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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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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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