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PLEC Gene Epidermolysis bullosa simplex with pyloric atresia NGS Genetic Test

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PLEC Gene Epidermolysis bullosa simplex with pyloric atresia NGS Genetic Test

Also known as: EBS with PA, Epidermolysis bullosa simplex with pyloric atresia, PLEC-related epidermolysis bullosa

PLEC Gene Epidermolysis bullosa simplex with pyloric atresia 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 Reports available 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 identify mutations in the PLEC gene for diagnosing epidermolysis bullosa simplex with pyloric atresia, enabling early intervention, informed treatment decisions, and genetic counseling.

Test Code
2387
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports available in 3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history of the patient undergoing the test. A genetic counseling session to draw a pedigree chart of affected family members is recommended.

Method: Blood draw via venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture, or alternatively, extracted DNA or a blood drop on an FTA card may be used.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. No specific post-collection restrictions.

Timeline: Reports available in 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling session.
2
During the Test:Blood sample collection or use of extracted DNA/FTA card.
3
After the Test:Monitor the puncture site; await report in 3-4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the PLEC gene for diagnosing epidermolysis bullosa simplex with pyloric atresia, enabling early intervention, informed treatment decisions, and genetic counseling.

How to Prepare

  • Ensure patient is comfortable and relaxed
  • Use aseptic technique for blood draw
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Early genetic testing for PLEC gene mutations can aid in the timely diagnosis and management of epidermolysis bullosa simplex with pyloric atresia, potentially improving patient outcomes through targeted interventions and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw via venipuncture

Sample Stability

Stable at ambient room temperature for up to 48 hours
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PLEC gene. Positive results confirm genetic susceptibility to EBS with PA, while negative results may require further clinical evaluation.
Positive: Pathogenic variant detected, consistent with EBS with PA
Negative: No pathogenic variants detected, but clinical symptoms may indicate other conditions
Variant of uncertain significance: Further testing or counseling recommended
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as skin blistering, digestive issues, or family history of EBS appear, or for genetic counseling after test results.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation
  • ⚠Limited to PLEC gene analysis

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant risks associated with genetic testing itself

Frequently Asked Questions

What is Epidermolysis bullosa simplex with pyloric atresia (EBS with PA)?
EBS with PA is a rare genetic disorder characterized by fragile skin leading to blistering and digestive issues like pyloric atresia, caused by mutations in the PLEC gene.
What causes EBS with PA?
It is caused by mutations in the PLEC gene, which encodes the plectin protein essential for skin and digestive tract cell integrity.
What are the common symptoms of EBS with PA?
Symptoms include skin blisters, painful sores, difficulty swallowing, vomiting, and poor weight gain.
How is EBS with PA diagnosed?
Diagnosis involves clinical examination, family history review, and genetic testing to identify PLEC gene mutations.
What is the NGS Genetic Test for EBS with PA?
It is a Next Generation Sequencing test that analyzes the entire PLEC gene for mutations using a blood sample, providing comprehensive genetic insights.
How much does the PLEC Gene NGS Genetic Test cost?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is the test painful or invasive?
No, it is a non-invasive procedure involving a simple blood draw or use of extracted DNA, with minimal discomfort.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across numerous cities in India.
Can this test be used for prenatal diagnosis?
While the test analyzes PLEC gene mutations, prenatal testing may require separate procedures; consult a genetic counselor.
What should I do if the test results are positive?
Positive results indicate a genetic predisposition; consult a healthcare provider for management strategies and genetic counseling.
Is genetic counseling recommended before taking this test?
Yes, a genetic counseling session is advised to understand the implications and draw a family pedigree chart.
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

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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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