Skip to main content
DNA Labs India

KRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic Test

Short Name: KRT14 Gene EBS NGS Test

Also known as: EBS NGS Genetic Test, KRT14 Mutation Analysis, Epidermolysis Bullosa Simplex Genetic Test

KRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the KRT14 Gene EBS NGS Genetic Test is to detect mutations in the KRT14 gene that cause autosomal recessive Epidermolysis Bullosa Simplex type 1. This aids in confirming clinical diagnosis, assessing disease severity, enabling carrier testing for family members, supporting prenatal or preimplantation genetic diagnosis, and informing personalized management strategies.

Test Code
2388
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, Next-Generation Sequencing
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are recommended before testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or a drop on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site; avoid heavy lifting for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications, family history assessment, and informed consent.
2
During the Test:Blood sample collection and NGS analysis in the laboratory.
3
After the Test:Results review with a healthcare provider, followed by management or counseling.

About This Test

Who Should Get This Test

The purpose of the KRT14 Gene EBS NGS Genetic Test is to detect mutations in the KRT14 gene that cause autosomal recessive Epidermolysis Bullosa Simplex type 1. This aids in confirming clinical diagnosis, assessing disease severity, enabling carrier testing for family members, supporting prenatal or preimplantation genetic diagnosis, and informing personalized management strategies.

How to Prepare

  • Ensure sample is labeled correctly with patient details
  • Use sterile collection equipment
  • Transport sample at ambient room temperature
  • Avoid hemolysis by gentle mixing

Doctor's Notes

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

"Genetic testing for KRT14 gene mutations is crucial for confirming Epidermolysis Bullosa Simplex diagnosis, guiding management, and informing family planning decisions."

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

Sample Stability

Blood in EDTA tube: stable for 7 days at 2-8°C
FTA card: stable at room temperature for years if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Clotted or hemolyzed samples
  • Unlabeled or mislabeled samples
  • Improperly stored samples

Understanding Your Results

Results from the KRT14 Gene EBS NGS Genetic Test should be interpreted by a clinical geneticist or dermatologist. A positive result confirms a pathogenic mutation in the KRT14 gene, supporting a diagnosis of autosomal recessive EBS type 1. A negative result does not rule out EBS if caused by other genes or undetectable variants.
Positive: Pathogenic variant detected – indicates causative mutation for EBS
Negative: No pathogenic variant detected – suggests no KRT14 mutation, but clinical correlation needed
Variant of uncertain significance (VUS) – requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

Consult a dermatologist or geneticist if you experience unexplained skin blistering, have a family history of EBS, or need guidance on test results for management or family planning.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or deep intronic mutations
  • ⚠Does not assess mutations in other genes associated with EBS or related disorders
  • ⚠Results require interpretation by a genetic specialist in clinical context

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact from genetic results

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degraded DNA due to improper storage
  • ●Presence of inhibitors in the sample affecting NGS

Compare With Similar Tests

TestKRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic TestKRT5 Gene EBS NGS TestGeneral Epidermolysis Bullosa Panel
ComparisonKRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic TestTests for mutations in KRT5 gene, another cause of autosomal dominant EBS.Comprehensive panel testing multiple genes associated with different EB subtypes.

Frequently Asked Questions

What is the KRT14 Gene EBS NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the KRT14 gene to diagnose autosomal recessive Epidermolysis Bullosa Simplex type 1 by detecting causative mutations.
How much does the test cost?
The test costs INR 20000.0 at DNA Labs India, with free home sample collection across India.
What samples are required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for the test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in multiple cities across India.
Who should take this test?
Individuals with symptoms of Epidermolysis Bullosa Simplex, such as skin blistering, or those with a family history of the condition.
How accurate is the NGS test?
NGS technology is highly accurate for detecting gene mutations, but results should be interpreted by a genetic specialist in clinical context.
What if the test result is negative?
A negative result may indicate no KRT14 mutation, but EBS could be caused by other genes; clinical evaluation is recommended.
Can this test be used for carrier testing?
Yes, it can identify carriers of KRT14 mutations in families affected by autosomal recessive EBS.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before testing to discuss implications and draw a family pedigree chart.
What are the risks of the test?
Risks are minimal, primarily from blood draw, such as bruising; psychological impact from results is possible but managed through counseling.
Is the test covered by insurance?
Coverage depends on the insurance policy; schemes like PMJAY, CGHS may not cover it, so check with your provider.
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.

Related Tests

Nx Gen Sequencing: Albinism Test

₹28,665

ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test

₹20,000

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

₹20,000

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

₹20,000

LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

₹20,000

DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.