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COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

Short Name: COL7A1 EBD NGS Test

Also known as: EBD Genetic Test, COL7A1 Mutation Analysis, Dystrophic Epidermolysis Bullosa Genetic Test

COL7A1 Gene Epidermolysis bullosa dystrophica 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 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 mutations in the COL7A1 gene for accurate diagnosis of Epidermolysis Bullosa Dystrophica, aiding in clinical management, genetic counseling, and family planning.

Test Code
2390
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 required. Genetic counseling recommended.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Apply pressure to puncture site. Store samples as per guidelines.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended. No fasting needed.
2
During the Test:Blood draw or FTA card collection. Procedure takes 10-15 minutes.
3
After the Test:Resume normal activities. Monitor for bruising at puncture site.

About This Test

Who Should Get This Test

To identify mutations in the COL7A1 gene for accurate diagnosis of Epidermolysis Bullosa Dystrophica, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport at ambient temperature within 24 hours

Doctor's Notes

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

"Early genetic diagnosis of Epidermolysis Bullosa Dystrophica through COL7A1 testing is crucial for timely 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
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card

Sample Stability

Blood: Stable at room temperature for 24 hours
FTA card: Stable at room temperature for weeks
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Contaminated sample

Understanding Your Results

Results indicate presence or absence of mutations in the COL7A1 gene associated with EBD.
Positive result: Pathogenic mutation detected, confirms EBD diagnosis.
Negative result: No mutation detected, EBD less likely but clinical correlation needed.
Variant of uncertain significance: Requires further evaluation and genetic counseling.
⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist for positive results, family history, or if symptoms persist.

Limitations

  • ⚠May not detect all mutations in COL7A1
  • ⚠Does not predict disease severity or progression

Risks & Considerations

  • ●Bruising at puncture site
  • ●Rare infection risk
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Incorrect sample type

Compare With Similar Tests

TestCOL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test
ComparisonCOL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

Frequently Asked Questions

What is the COL7A1 Gene EBD NGS Genetic Test?
It is a next-generation sequencing test to identify mutations in the COL7A1 gene for diagnosing Epidermolysis Bullosa Dystrophica.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
How long does it take to get results?
Results are available in 3 to 4 weeks.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the COL7A1 gene, confirming EBD diagnosis.
Is the test accurate?
Yes, NGS is highly accurate for detecting mutations.
Can the test be done at home?
Yes, free home sample collection is available across India.
What are the symptoms of Epidermolysis Bullosa Dystrophica?
Symptoms include blistering skin, scarring, and deformities.
How is EBD diagnosed?
Through clinical examination, skin biopsy, and genetic testing like this NGS test.
Is genetic testing covered by insurance?
Coverage depends on insurance policy; check with your provider.
What should I do if I have symptoms of EBD?
Seek medical attention and consider genetic testing for diagnosis.
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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