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KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

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KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

Short Name: KRT14 EBS Dowling-Meara NGS Test

Also known as: KRT14 Gene Test, Epidermolysis Bullosa Simplex Dowling-Meara Type Genetic Test, NGS Genetic Test for EBS

KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type 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 from sample receipt. Free home collection in 300+ cities across India.

Genetic Test🏠 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 KRT14 gene associated with Epidermolysis Bullosa Simplex, Dowling-Meara type, confirming diagnosis and guiding management.

Test Code
2391
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to review clinical history and draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop blood on FTA card, following standard protocols.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology at the laboratory.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications, benefits, and limitations of testing. Provide detailed clinical and family history.
2
During the Test:Non-invasive sample collection (blood or FTA card) performed by trained phlebotomists with home collection available.
3
After the Test:Laboratory analysis via NGS, report generation, and delivery through preferred methods (online, email, WhatsApp).

About This Test

Who Should Get This Test

To identify mutations in the KRT14 gene associated with Epidermolysis Bullosa Simplex, Dowling-Meara type, confirming diagnosis and guiding management.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Avoid hemolysis in blood samples by gentle handling
  • Store FTA card at room temperature if used
  • Provide complete clinical history for accurate interpretation

Doctor's Notes

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

"Genetic testing for Epidermolysis Bullosa Simplex, Dowling-Meara type is essential for accurate diagnosis, management, and family planning. Consult with a genetic counselor for comprehensive care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood sample: stable for 48 hours at room temperature
FTA card: stable for long-term storage when kept dry
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or degraded sample
  • Incorrectly labeled or unlabeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the KRT14 gene linked to Epidermolysis Bullosa Simplex, Dowling-Meara type.
Positive result: Pathogenic variant detected, confirming diagnosis and guiding clinical management
Negative result: No pathogenic variant detected; consider other causes or further testing if clinically indicated
Variant of uncertain significance (VUS): Requires additional evaluation, genetic counseling, and family studies
⚠️ When to Consult a Doctor:

If symptoms such as recurrent blistering, nail abnormalities, or family history of EB persist, consult a dermatologist or genetic specialist for evaluation and testing.

Limitations

  • ⚠Cannot detect all possible mutations in the KRT14 gene
  • ⚠Negative result does not rule out EBS if clinical suspicion remains high
  • ⚠Results may require confirmation with additional methods in some cases

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●Potential for uncertain results requiring further investigation

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Incorrect sample collection or handling

Compare With Similar Tests

TestKRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic TestKRT5 Gene Test for Epidermolysis Bullosa SimplexCOL7A1 Gene Test for Dystrophic Epidermolysis Bullosa
ComparisonKRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

Frequently Asked Questions

What is the KRT14 Gene Epidermolysis Bullosa Simplex, Dowling-Meara type NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to identify mutations in the KRT14 gene, which cause the Dowling-Meara type of Epidermolysis Bullosa Simplex, a rare skin blistering disorder.
What are the symptoms of Dowling-Meara type EBS?
Symptoms include formation of blisters on the skin, especially hands and feet, painful or itchy lesions, callus formation, and nail abnormalities like thickened or deformed nails.
How is Dowling-Meara type EBS diagnosed?
Diagnosis involves a physical exam, skin biopsy, and genetic testing. The NGS genetic test confirms mutations in the KRT14 gene.
What is the cost of the KRT14 Gene NGS Genetic Test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
What sample is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic mutation in the KRT14 gene, confirming a diagnosis of Dowling-Meara type EBS.
Can this test be used for prenatal diagnosis?
Consult a genetic counselor for prenatal testing options; this test is primarily for diagnostic purposes in affected individuals.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What files are provided with the test report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test report for transparency.
Who should consider getting this test?
Individuals with symptoms of blistering skin disorders, especially with a family history of EBS, or those seeking genetic counseling for diagnosis and family planning.
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.

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✓ 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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