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EXPH5 Gene Epidermolysis bullosa, nonspecific, autosomal recessive NGS Genetic Test

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EXPH5 Gene Epidermolysis bullosa, nonspecific, autosomal recessive NGS Genetic Test

Short Name: EXPH5 EB NGS Test

Also known as: EXPH5 Gene Mutation Test, Epidermolysis Bullosa NGS Test, Autosomal Recessive EB Genetic Test

EXPH5 Gene Epidermolysis bullosa, nonspecific, autosomal recessive 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

To identify mutations in the EXPH5 gene for definitive diagnosis of autosomal recessive epidermolysis bullosa, guide treatment strategies, and inform family planning through genetic counseling.

Test Code
2409
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

Genetic counseling session is recommended to discuss test implications, provide clinical history, and draw a family pedigree chart.

Method: Home Collection or Lab Visit

Step 2

Laboratory Analysis

Blood sample is drawn by a trained phlebotomist or one drop of blood is collected on an FTA card; alternatively, extracted DNA can be submitted.

Step 3

Report Delivery

Sample is securely transported to the laboratory for NGS analysis; maintain ambient room temperature during transit.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider for clinical evaluation and genetic counseling referral.
2
During the Test:Sample collection via blood draw or FTA card; minimal discomfort with standard blood draw procedure.
3
After the Test:Wait for 3-4 weeks for results; follow up with genetic counselor or physician for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the EXPH5 gene for definitive diagnosis of autosomal recessive epidermolysis bullosa, guide treatment strategies, and inform family planning through genetic counseling.

How to Prepare

  • No fasting required for this test
  • Bring valid ID and prescription or doctor's referral
  • Ensure sample is properly labeled and sealed
  • For FTA card, follow specific collection guidelines provided

Doctor's Notes

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

"This test is crucial for confirming genetic causes of Epidermolysis bullosa and guiding family counseling and management plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodHome Collection or Lab Visit

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card sample stable for up to 30 days at ambient conditions
Extracted DNA stable for longer periods as per lab protocols
Sample Rejection Criteria:
  • Hemolyzed, clotted, or insufficient sample
  • Incorrect or missing patient identification
  • Sample received beyond stability period

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the EXPH5 gene associated with autosomal recessive epidermolysis bullosa.
Positive Result: Pathogenic variant detected, confirming diagnosis; refer for genetic counseling and management
Negative Result: No pathogenic variants found, but clinical correlation is needed; consider other genetic tests if symptoms persist
Variant of Uncertain Significance (VUS): Detected variant has unknown clinical significance; follow-up testing or family studies may be recommended
⚠️ When to Consult a Doctor:

Consult a dermatologist or geneticist if you have persistent blistering skin, family history of EB, or to interpret test results and plan treatment.

Limitations

  • ⚠May not detect all genetic variants or non-coding mutations
  • ⚠Results require correlation with clinical findings and genetic counseling
  • ⚠Does not rule out other forms of epidermolysis bullosa

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Extremely low risk of infection

Interfering Factors

  • ●Hemolyzed or degraded DNA sample
  • ●Insufficient sample volume
  • ●Contamination during collection or transport

Compare With Similar Tests

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ComparisonEXPH5 Gene Epidermolysis bullosa, nonspecific, autosomal recessive NGS Genetic Test

Frequently Asked Questions

What is EXPH5 Gene Epidermolysis bullosa?
It is a rare autosomal recessive genetic disorder causing fragile skin that blisters easily due to mutations in the EXPH5 gene.
How is the NGS genetic test performed?
The test uses Next-Generation Sequencing to analyze the EXPH5 gene from a blood or DNA sample for pathogenic variants.
What is the cost of the test in India?
The test costs INR 20000, with free home sample collection available in major cities.
Is home sample collection available?
Yes, free home collection is offered in numerous cities across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks, delivered via online portal, email, or WhatsApp.
What are the symptoms of this condition?
Symptoms include blistering skin, scarring, nail dystrophy, and in severe cases, difficulty swallowing or breathing.
Who should take this test?
Individuals with symptoms of EB, family history, or those needing genetic confirmation for management or counseling.
Is genetic counseling required before testing?
Yes, genetic counseling is recommended to discuss implications, family history, and test outcomes.
What if the test result is positive?
A positive result confirms the diagnosis; consult a geneticist for management and family planning advice.
Can this test be used for prenatal diagnosis?
It may be used in conjunction with prenatal testing if family mutations are known; consult a genetic counselor.
Is the test covered by insurance?
Generally not covered; check with your insurance provider or consider government schemes like PMJAY for eligibility.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting known mutations, but results should be interpreted with clinical correlation.
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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