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KRT5 Gene Epidermolysis bullosa simplex NGS Genetic Test

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KRT5 Gene Epidermolysis bullosa simplex NGS Genetic Test

Short Name: KRT5 Gene EBS NGS Test

Also known as: Epidermolysis Bullosa Simplex, EBS

KRT5 Gene Epidermolysis bullosa simplex 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.

Dermatologist🏠 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 KRT5 gene for the diagnosis of Epidermolysis Bullosa Simplex (EBS).

Test Code
2399
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

Provide clinical history and undergo genetic counseling. Pedigree chart may be drawn.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Sample collection via blood draw or FTA card as per standard procedures.

Step 3

Report Delivery

Apply pressure to puncture site if blood drawn. Store FTA card properly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample or FTA card collection for DNA extraction and NGS analysis.
3
After the Test:Results will be available in 3-4 weeks. Follow-up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the KRT5 gene for the diagnosis of Epidermolysis Bullosa Simplex (EBS).

How to Prepare

  • For blood sample: no fasting required
  • For FTA card: one drop of blood on designated area
  • Ensure proper labeling of samples

Doctor's Notes

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

"Genetic testing for EBS using NGS technology provides a definitive diagnosis, enabling personalized management and genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA Vacutainer or FTA Card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples: stable for 48 hours at room temperature
FTA cards: stable at room temperature for extended period
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the KRT5 gene.
Positive result: Pathogenic variant(s) identified, confirming diagnosis of EBS
Negative result: No pathogenic variants detected, but clinical correlation recommended
Variant of uncertain significance: Further testing or family studies may be advised
⚠️ When to Consult a Doctor:

If symptoms of EBS are present, such as easy blistering, skin fragility, or nail abnormalities, consult a dermatologist or geneticist for evaluation.

Limitations

  • ⚠Test is specific to KRT5 gene; other genes causing EBS may not be detected
  • ⚠Cannot determine severity of condition

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Psychological impact of genetic diagnosis
  • ●Implications for family members

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Frequently Asked Questions

What is the KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic Test?
This test uses next-generation sequencing to analyze the KRT5 gene for mutations causing Epidermolysis Bullosa Simplex, a genetic skin disorder characterized by fragile, blister-prone skin.
How much does the KRT5 Gene EBS NGS Test cost?
The cost is INR 20000, which includes home sample collection across India and a genetic counseling session.
What are the symptoms of Epidermolysis Bullosa Simplex?
Symptoms include easy blistering from minor friction, skin tearing, thickened palms and soles, nail dystrophy, hair loss, and sometimes difficulty swallowing.
How is the test performed?
A blood sample or FTA card with a drop of blood is collected and analyzed using NGS technology to detect mutations in the KRT5 gene.
Is fasting required for this genetic test?
No, fasting is not required for the KRT5 Gene EBS NGS Test. You can eat and drink normally before sample collection.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection. Reports are delivered via online portal, email, or WhatsApp.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India, including outstation locations.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the KRT5 gene, confirming a diagnosis of Epidermolysis Bullosa Simplex and guiding further management.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible through specialized arrangements with our genetics team. Consult a genetic counselor for detailed guidance and family planning options.
Are there any risks associated with the genetic test?
The test involves minimal physical risks such as slight discomfort from blood draw. However, genetic results may carry psychological and familial implications that should be discussed with a counselor.
How accurate is the NGS test for EBS?
NGS is highly accurate for identifying mutations in the KRT5 gene. Accuracy depends on sample quality, DNA integrity, and the specific variants present.
Where can I book the KRT5 Gene EBS NGS Test?
You can book the test online through DNA Labs India's website or contact their support team via phone or WhatsApp for assistance with booking and sample collection.
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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