GJB4 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test
Also known as: EKVP, Erythrokeratodermia variabilis
GJB4 Gene Erythrokeratodermia variabilis et progressive 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. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the GJB4 gene to confirm a diagnosis of Erythrokeratodermia variabilis et progressive (EKVP), aiding in clinical management and genetic counseling.
- Test Code
- 4929
- 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
- NGS Technology
Sample Collection
Clinical history and genetic counseling recommended.
Method: Blood draw or cheek swab
Laboratory Analysis
Blood draw or cheek swab collection.
Report Delivery
Sample sent to lab for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the GJB4 gene to confirm a diagnosis of Erythrokeratodermia variabilis et progressive (EKVP), aiding in clinical management and genetic counseling.
How to Prepare
- Fast not required
- Provide accurate clinical history
- Follow sample collection guidelines
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Consult a genetic counselor for personalized advice on EKVP testing and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample
- Contaminated sample
- Incorrect sample type
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of EKVP
Negative
No mutation detected; clinical correlation advised
Variant of uncertain significance
Further testing or family studies recommended
If you have symptoms of EKVP or a family history, consult a dermatologist or genetic counselor.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require interpretation by a geneticist
- ⚠Not a substitute for clinical diagnosis
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Technical errors in sequencing
Frequently Asked Questions
What is the GJB4 Gene EKVP NGS Genetic Test?
What is Erythrokeratodermia variabilis et progressive (EKVP)?
What are the symptoms of EKVP?
How is EKVP diagnosed?
What does the NGS Genetic Test involve?
What is the cost of the test in India?
Is home sample collection available?
How long does it take to get results?
Who should get this test?
What if the test is positive?
Are there any risks associated with the test?
How can I book the test?
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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.
Your Data Privacy
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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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