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DNA Labs India

CTSC Gene Papillon-Lefevre syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CTSC Gene Papillon-Lefevre syndrome NGS Genetic Test

Short Name: CTSC Gene PLS NGS Test

Also known as: PLS Genetic Test, CTSC Gene Mutation Analysis

CTSC Gene Papillon-Lefevre 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.

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

The purpose of this test is to identify mutations in the CTSC gene associated with Papillon-Lefevre syndrome, enabling early diagnosis, personalized management, and genetic counseling for patients and their families.

Test Code
5105
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
Step 1

Sample Collection

No specific preparation is required. Ensure informed consent is obtained and provide clinical history as needed.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a saliva sample will be collected using a provided kit. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed and transport to the lab promptly.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to understand the test implications.
2
During the Test:Sample collection via blood draw or saliva; procedure is minimally invasive.
3
After the Test:Wait for results (3-4 weeks) and schedule a follow-up for interpretation and counseling.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the CTSC gene associated with Papillon-Lefevre syndrome, enabling early diagnosis, personalized management, and genetic counseling for patients and their families.

How to Prepare

  • Use sterile equipment for blood collection.
  • For saliva collection, avoid eating or drinking 30 minutes prior.
  • Label samples correctly with patient details.
  • Follow kit instructions for FTA card blood drop.

Doctor's Notes

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

"This test is crucial for early diagnosis of Papillon-Lefevre syndrome, allowing for timely management and genetic counseling to affected 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 saliva collection

Understanding Your Results

Results indicate the presence or absence of mutations in the CTSC gene. A positive result confirms a genetic basis for Papillon-Lefevre syndrome, while a negative result may not rule out other causes.
Positive: Pathogenic mutation detected in CTSC gene, consistent with diagnosis of Papillon-Lefevre syndrome.
Negative: No pathogenic mutation detected; consider other diagnoses or repeat testing if clinical suspicion remains.
Variant of uncertain significance: Further testing or family studies may be needed.
Results should be correlated with clinical presentation and family history for accurate diagnosis.
⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist if you have symptoms of Papillon-Lefevre syndrome, a family history of the disorder, or after receiving test results for appropriate management and counseling.

Limitations

  • ⚠This test may not detect all possible mutations in the CTSC gene, such as large deletions or duplications.
  • ⚠Results should be interpreted in conjunction with clinical findings and family history.
  • ⚠Genetic counseling is recommended to understand the implications of results.

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or discomfort.
  • ●Psychological impact of genetic results; counseling is recommended.

Frequently Asked Questions

What is Papillon-Lefevre syndrome?
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by hyperkeratosis of the palms and soles, early-onset periodontitis, and premature tooth loss.
What causes Papillon-Lefevre syndrome?
PLS is caused by mutations in the CTSC gene, which codes for the enzyme cathepsin C, important for immune function and tissue development.
What are the symptoms of PLS?
Symptoms include thickened skin on palms and soles, severe gum disease leading to tooth loss, recurrent skin infections, and nail abnormalities.
How is PLS diagnosed?
Diagnosis is based on clinical findings, family history, and genetic testing to detect mutations in the CTSC gene.
What does the CTSC Gene NGS Genetic Test involve?
The test uses next-generation sequencing to analyze the CTSC gene for mutations from a blood or saliva sample.
How long does it take to get test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling recommended?
Yes, genetic counseling is advised to understand the inheritance pattern, recurrence risks, and implications for family planning.
What is the cost of the CTSC Gene Papillon-Lefevre Syndrome NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising. Psychological support is available through counseling.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
What should I do if I test positive?
If positive, consult a geneticist or dermatologist for management options, and consider genetic counseling for family members.
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

Your Data Privacy

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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