KRT14 Gene Epidermolysis bullosa simplex, Koebner type NGS Genetic Test
Short Name: KRT14 EBS Koebner Type Genetic Test
Also known as: EBS Koebner Type, KRT14-Related Epidermolysis Bullosa Simplex
KRT14 Gene Epidermolysis bullosa simplex, Koebner 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. 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 this test is to identify mutations in the KRT14 gene that cause Epidermolysis Bullosa Simplex, Koebner type. It provides accurate diagnosis, aids in genetic counseling, informs personalized treatment options, and assists in family planning and risk assessment.
- Test Code
- 2397
- 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
Sample Collection
No special preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or finger-prick
Laboratory Analysis
A small blood sample will be drawn via venipuncture or finger-prick onto an FTA card or into an EDTA tube.
Report Delivery
Apply pressure to the collection site to prevent bruising. Store the sample as per instructions for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the KRT14 gene that cause Epidermolysis Bullosa Simplex, Koebner type. It provides accurate diagnosis, aids in genetic counseling, informs personalized treatment options, and assists in family planning and risk assessment.
How to Prepare
- Ensure aseptic technique during blood collection
- Avoid hemolysis of the blood sample
- Label the sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Epidermolysis Bullosa Simplex, Koebner type aids in accurate diagnosis, management, and family planning, especially for individuals with a family history or clinical symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect sample labeling or container
Understanding Your Results
Positive for KRT14 pathogenic variant
Confirms diagnosis of Epidermolysis Bullosa Simplex, Koebner type. Genetic counseling recommended for management and family planning.
Negative for KRT14 pathogenic variant
No mutation detected in the KRT14 gene. Clinical correlation and possible testing for other genes may be needed if symptoms persist.
Variant of uncertain significance (VUS)
A genetic variant found with unclear clinical significance. Further testing and family studies may be required for interpretation.
Consult a dermatologist or geneticist if you experience unexplained skin blistering, have a family history of Epidermolysis Bullosa, or if genetic testing results are positive or ambiguous for proper management and counseling.
Limitations
- ⚠May not detect all possible genetic variants or mosaicism
- ⚠Requires interpretation by a geneticist or qualified healthcare provider
- ⚠Cannot assess environmental factors influencing symptom severity
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the collection site
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Use of certain topical treatments on skin (if biopsy-related)
Compare With Similar Tests
| Test | KRT14 Gene Epidermolysis bullosa simplex, Koebner type NGS Genetic Test | KRT5 Gene EBS Genetic Test | COL7A1 Gene Dystrophic EB Genetic Test | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | KRT14 Gene Epidermolysis bullosa simplex, Koebner type NGS Genetic Test | Similar NGS-based test for Epidermolysis Bullosa Simplex caused by KRT5 mutations. | Genetic test for a different type of Epidermolysis Bullosa affecting collagen. | Broader genetic test that may include KRT14 but covers multiple genes. |
Frequently Asked Questions
What is the KRT14 Gene Epidermolysis Bullosa Simplex, Koebner Type NGS Genetic Test?
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₹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.
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