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DNA Labs India

COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic Test

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COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic Test

Short Name: COL17A1 EB Junctional NGS Test

Also known as: Junctional EB, COL17A1-related Epidermolysis Bullosa

COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after sample collection.. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the COL17A1 gene for the diagnosis of junctional epidermolysis bullosa, enabling appropriate medical management and genetic counseling.

Test Code
2398
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks after sample collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling is recommended. Provide detailed clinical history and family pedigree.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw or FTA card sample collection under aseptic conditions.

Step 3

Report Delivery

Label sample properly and transport to laboratory at ambient temperature.

Timeline: Results are typically available within 3 to 4 weeks after sample collection.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test, implications, and prepare a family pedigree chart.
2
During the Test:Sample collection is performed by a trained professional, either at home or in a clinic.
3
After the Test:The sample is analyzed using NGS technology, and a detailed report is generated.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the COL17A1 gene for the diagnosis of junctional epidermolysis bullosa, enabling appropriate medical management and genetic counseling.

How to Prepare

  • Ensure patient identification
  • Avoid hemolysis during collection
  • Use appropriate sample container
  • Transport promptly to lab

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for COL17A1 is essential for accurate diagnosis of junctional EB, aiding in treatment and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed sample
  • Improperly labeled sample
  • Contaminated sample

Understanding Your Results

The test results indicate whether pathogenic mutations are present in the COL17A1 gene, which are associated with junctional epidermolysis bullosa.
📊

Pathogenic variant detected

Confirms diagnosis of COL17A1-related junctional EB. Genetic counseling and management should be initiated.

📊

No pathogenic variant detected

EB due to COL17A1 mutations is unlikely. Other genetic causes may be considered.

⚠️ When to Consult a Doctor:

If the test detects a pathogenic variant, consult a geneticist or dermatologist for treatment options and family planning advice. For negative results with symptoms, further evaluation may be needed.

Limitations

  • ⚠May not detect all possible variants
  • ⚠Does not assess other genes involved in EB
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic test results

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Hemolysis in blood sample

Frequently Asked Questions

What is COL17A1 Gene Epidermolysis Bullosa?
COL17A1 Gene Epidermolysis Bullosa is a subtype of junctional epidermolysis bullosa caused by mutations in the COL17A1 gene, leading to fragile skin and blistering.
How is the NGS genetic test performed?
The test involves next-generation sequencing of the COL17A1 gene from a blood or DNA sample to detect mutations.
What is the cost of this genetic test?
The cost is INR 20,000, including home sample collection in many cities across India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in various Indian cities.
How long does it take to get the results?
Results are usually available within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show whether pathogenic mutations in the COL17A1 gene are present, confirming or ruling out this form of epidermolysis bullosa.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible after genetic counseling, but it depends on specific cases and lab capabilities.
Is genetic counseling required before the test?
Genetic counseling is recommended to understand the implications, prepare a family pedigree, and provide informed consent.
What are the symptoms of COL17A1-related EB?
Symptoms include skin blistering, scarring, nail abnormalities, mucous membrane involvement, hair loss, and in severe cases, anemia.
How accurate is NGS testing for COL17A1?
NGS is highly accurate for detecting mutations in the COL17A1 gene, but interpretation requires clinical context.
Are there any risks associated with the test?
The test itself has minimal risks, primarily related to blood draw, such as bruising. Emotional impact from results is possible.
What should I do if the test is positive?
If positive, consult a healthcare provider 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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