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CDSN Gene Peeling skin syndrome type 1 NGS Genetic Test

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CDSN Gene Peeling skin syndrome type 1 NGS Genetic Test

CDSN Gene Peeling skin syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect mutations in the CDSN gene for diagnosis of Peeling Skin Syndrome Type 1.

Test Code
5104
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
Step 1

Sample Collection

Genetic counseling and clinical history review required. Ensure informed consent.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications and draw pedigree chart.
2
During the Test:Sample collection as per instructions.
3
After the Test:Wait for results and follow up with healthcare provider.

About This Test

Who Should Get This Test

To detect mutations in the CDSN gene for diagnosis of Peeling Skin Syndrome Type 1.

How to Prepare

  • Blood sample collection by trained phlebotomist
  • DNA extraction from blood if needed
  • Use FTA card for one drop blood if specified

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for CDSN mutations can guide management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of mutations in the CDSN gene associated with PSS1.
Positive: Pathogenic variant detected, consistent with PSS1 diagnosis.
Negative: No pathogenic variants detected, PSS1 unlikely but not ruled out.
Variant of Uncertain Significance (VUS): Further testing and clinical correlation recommended.
⚠️ When to Consult a Doctor:

If you experience symptoms of PSS1 or have a family history, consult a dermatologist or geneticist.

Risks & Considerations

  • ●Minimal risks from blood draw
  • ●Potential psychological impact of genetic results

Frequently Asked Questions

What is CDSN Gene Peeling Skin Syndrome Type 1?
PSS1 is a rare genetic disorder caused by mutations in the CDSN gene, leading to skin peeling in sheets.
What are the symptoms of PSS1?
Symptoms include peeling skin on hands and feet, redness, inflammation, tenderness, pain, itching, burning, blisters, and sores.
How is PSS1 diagnosed?
Diagnosis involves clinical symptoms, family history, genetic testing, and sometimes skin biopsy.
What is the NGS Genetic Test for CDSN gene?
It is a next-generation sequencing test that accurately detects mutations in the CDSN gene for PSS1 diagnosis.
What is the cost of the CDSN Gene PSS1 NGS Genetic Test?
The cost is INR 20,000, including genetic counseling, sample collection, and analysis.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the CDSN gene, consistent with PSS1.
What are the treatment options for PSS1?
Treatments include topical creams, antibiotics, moisturizers, corticosteroids, and supportive therapies to manage symptoms.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY.
Who should consider getting this test?
Individuals with symptoms of PSS1 or a family history of the disorder should consider testing.
How accurate is the NGS Genetic Test?
The NGS test is highly accurate for detecting mutations in the CDSN gene, but genetic counseling is recommended for interpretation.
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.

LIMS Integration

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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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