KRT14 Gene Epidermolysis bullosa simplex, Weber-Cockayne type NGS Genetic Test
Short Name: KRT14 EBS Weber-Cockayne NGS Test
Also known as: KRT14 Gene Mutation Analysis, EBS Weber-Cockayne Genetic Test, Epidermolysis Bullosa Simplex DNA Test, KRT14 NGS Sequencing Test, Weber-Cockayne Syndrome Genetic Panel
KRT14 Gene Epidermolysis bullosa simplex, Weber-Cockayne type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatic Variant Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the online portal, email, and WhatsApp. An expedited review may be available upon request for urgent clinical cases — please contact DNA Labs India for details.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the KRT14 Gene NGS Genetic Test is to identify pathogenic mutations in the KRT14 gene responsible for Epidermolysis Bullosa Simplex, Weber-Cockayne type. This test confirms clinical diagnosis, identifies the specific causative variant, differentiates EBS-WC from other subtypes and related blistering disorders, enables carrier testing in family members, supports prenatal and preimplantation genetic diagnosis, and guides personalized management and genetic counselling for affected individuals and their families.
- Test Code
- 2400
- CPT Code
- 81479
- ICD Code
- Q81.0
- 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 from the date of sample receipt at the laboratory. Reports are delivered through the online portal, email, and WhatsApp. An expedited review may be available upon request for urgent clinical cases — please contact DNA Labs India for details.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatic Variant Analysis
Sample Collection
No fasting is required. Ensure the patient has not received a blood transfusion within the last 4 weeks. A pre-test genetic counselling session is recommended to document the family pedigree and clinical history of the patient.
Method: Venipuncture or FTA Card Blood Spot
Laboratory Analysis
A venous blood sample of approximately 3-5 mL will be collected in an EDTA (lavender-top) vacutainer. Alternatively, one drop of blood on an FTA card may be used. The collection is performed by a trained phlebotomist with standard aseptic precautions.
Report Delivery
Label the sample clearly with patient details and transport at ambient room temperature to the laboratory. Ensure the sample reaches the testing facility within 48 hours of collection for optimal DNA quality.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the online portal, email, and WhatsApp. An expedited review may be available upon request for urgent clinical cases — please contact DNA Labs India for details.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the KRT14 Gene NGS Genetic Test is to identify pathogenic mutations in the KRT14 gene responsible for Epidermolysis Bullosa Simplex, Weber-Cockayne type. This test confirms clinical diagnosis, identifies the specific causative variant, differentiates EBS-WC from other subtypes and related blistering disorders, enables carrier testing in family members, supports prenatal and preimplantation genetic diagnosis, and guides personalized management and genetic counselling for affected individuals and their families.
How to Prepare
- No fasting or special preparation is required prior to sample collection
- Collect 3-5 mL of venous blood in an EDTA (lavender-top) vacutainer using standard venipuncture technique
- Alternatively, apply one drop of blood onto the provided FTA card and allow it to dry completely
- Ensure the sample is clearly labeled with the patient's full name, date of birth, and unique identification number
- Transport the blood sample at ambient room temperature (15-30°C); do not freeze
- If using an FTA card, place it in the provided envelope after drying and transport at room temperature
- The sample should reach the laboratory within 48 hours of collection for best results
- Provide complete clinical history and family pedigree information along with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Epidermolysis bullosa simplex, Weber-Cockayne type, is the most common subtype of EBS and predominantly affects the hands and feet. Genetic confirmation through KRT14 gene analysis using NGS technology is essential for accurate diagnosis, family planning counseling, and differentiation from other subtypes of epidermolysis bullosa. I recommend this test for any patient presenting with recurrent acral blistering triggered by friction or minor trauma, especially when there is a positive family history suggestive of autosomal dominant inheritance. Early genetic diagnosis allows for targeted management strategies and helps prevent complications such as secondary infection and scarring."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample collected in EDTA vacutainer
- Sample contaminated with heparin anticoagulant
- Insufficient sample volume (less than 2 mL whole blood)
- Sample received without proper labeling or identification
- Severely hemolyzed or degraded DNA sample
- Sample received after more than 72 hours of collection without proper storage
- Missing clinical history or requisition form
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the KRT14 gene has been identified. This confirms the diagnosis of Epidermolysis Bullosa Simplex, Weber-Cockayne type. The specific variant information enables carrier testing in family members and supports prenatal or preimplantation genetic diagnosis options.
Likely Pathogenic Variant Detected
A variant in the KRT14 gene has been identified that is strongly suspected to be disease-causing based on available evidence. Clinical correlation is recommended. Additional family studies may help confirm pathogenicity.
Variant of Uncertain Significance (VUS)
A variant in the KRT14 gene has been identified, but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation and family segregation studies are recommended. The classification may be updated as new evidence becomes available.
Likely Benign or Benign Variant
The identified variant in the KRT14 gene is classified as unlikely to be disease-causing or is a known benign polymorphism. This result does not support a molecular diagnosis of EBS Weber-Cockayne type through the KRT14 gene. Testing of additional genes may be considered.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the KRT14 gene. This result does not exclude a diagnosis of epidermolysis bullosa, as mutations in other genes (KRT5, PLEC, DST, etc.) can cause similar conditions. Clinical correlation and further genetic testing may be warranted.
Consult your dermatologist or clinical geneticist if you or your child experience recurrent blistering of the skin especially on the hands and feet after minor friction or trauma, if there is a family history of epidermolysis bullosa or blistering disorders, or if you receive a positive or inconclusive genetic test result. Genetic counselling is strongly recommended both before and after testing to fully understand the implications of the results, inheritance patterns, and available management options.
Limitations
- ⚠This test specifically targets the KRT14 gene and does not screen for mutations in other EBS-associated genes such as KRT5, PLEC, or DST
- ⚠Large genomic rearrangements or copy number variations in the KRT14 gene may not be fully detected by standard NGS sequencing
- ⚠Variants of Uncertain Significance (VUS) may be identified that cannot be definitively classified as pathogenic or benign at the time of reporting
- ⚠The test does not assess epigenetic modifications or regulatory region variants outside the targeted sequencing regions
- ⚠Results should always be interpreted in the context of clinical findings and family history by a qualified geneticist or dermatologist
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site, which typically resolves within a few hours
- ●Very rare risk of infection at the blood draw site, minimized by standard aseptic technique
- ●Possibility of identifying a Variant of Uncertain Significance (VUS) that may cause anxiety and require further evaluation
- ●Potential psychological impact of receiving a positive genetic diagnosis for a chronic condition, mitigated by pre- and post-test genetic counselling
Interfering Factors
- ●Degraded DNA samples due to improper storage or handling may affect sequencing quality
- ●Heparin-treated blood samples can interfere with downstream NGS library preparation
- ●Recent blood transfusions within the past 4 weeks may affect results by introducing donor DNA
- ●Contamination during sample collection or processing may lead to false variant calls
Compare With Similar Tests
| Test | KRT14 Gene Epidermolysis bullosa simplex, Weber-Cockayne type NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | KRT14 Gene Epidermolysis bullosa simplex, Weber-Cockayne type NGS Genetic Test |
Frequently Asked Questions
What is the KRT14 Gene Epidermolysis Bullosa Simplex, Weber-Cockayne Type NGS Genetic Test?
What is Epidermolysis Bullosa Simplex, Weber-Cockayne type?
How is this test different from a skin biopsy for epidermolysis bullosa?
Who should get the KRT14 Gene EBS Weber-Cockayne NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
What is the cost of the KRT14 Gene NGS Genetic Test at DNA Labs India?
Is this test covered by insurance?
What do the results mean if a pathogenic variant is found?
What happens if the test finds a Variant of Uncertain Significance (VUS)?
Does DNA Labs India provide raw sequencing data along with the test report?
Is genetic counselling included with this test?
Related Tests
Nx Gen Sequencing: Albinism Test
₹28,665ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test
₹20,000COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test
₹20,000KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test
₹20,000LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test
₹20,000ENPP1 Gene Cole disease NGS Genetic Test
₹20,000Reference 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.
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.