PKP1 Gene Ectodermal dysplasia/skin fragility syndrome NGS Genetic Test
PKP1 Gene Ectodermal dysplasia/skin fragility syndrome 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
To diagnose ectodermal dysplasia/skin fragility syndrome by identifying mutations in the PKP1 gene using NGS technology.
- Test Code
- 4915
- 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 of the patient and a genetic counseling session to draw a pedigree chart of affected family members.
Method: Blood Draw or Saliva Collection
Laboratory Analysis
Standard blood draw or saliva collection procedure performed by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose ectodermal dysplasia/skin fragility syndrome by identifying mutations in the PKP1 gene using NGS technology.
How to Prepare
- Fast for 8-12 hours if required, though not specified for this test.
- Bring identification and doctor's prescription.
- Inform the technician of any medications or health conditions.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing is essential for diagnosing rare disorders like ectodermal dysplasia/skin fragility syndrome. Consult a genetic counselor for family planning and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
If symptoms of ectodermal dysplasia/skin fragility syndrome are present or if there is a family history of the disorder.
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection
Frequently Asked Questions
What is the PKP1 Gene Ectodermal Dysplasia/Skin Fragility Syndrome NGS Genetic Test?
Who should consider this test?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What do the results mean?
Is genetic counseling required?
What are the symptoms of ectodermal dysplasia/skin fragility syndrome?
Can this test be used for prenatal diagnosis?
Is the test covered by insurance?
How accurate is the NGS 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.
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✓ 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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