KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic Test
Short Name: KRT1 EHK NGS Genetic Test
Also known as: Epidermolytic Hyperkeratosis, EHK, Bullous Ichthyosiform Erythroderma
KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, FTA Card Blood Drop samples. Results in Results are typically available within 3 to 4 weeks after sample collection.. 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
To confirm the diagnosis of Epidermolytic Hyperkeratosis, identify specific mutations in the KRT1 gene, assess the severity of the condition, guide treatment decisions, and provide information for genetic counseling and family planning.
- Test Code
- 2412
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, FTA Card Blood Drop
- Result Time
- Results are typically available within 3 to 4 weeks after sample collection.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history of the patient. Undergo genetic counseling to draw a pedigree chart of family members affected with Epidermolytic Hyperkeratosis.
Method: Venipuncture for blood sample or buccal swab for DNA extraction
Laboratory Analysis
A blood sample will be drawn via venipuncture or a saliva sample collected by a trained phlebotomist. The process is quick and minimally invasive, typically taking 10-15 minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball. Keep the area clean and dry. No special aftercare is required for saliva collection.
Timeline: Results are typically available within 3 to 4 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
To confirm the diagnosis of Epidermolytic Hyperkeratosis, identify specific mutations in the KRT1 gene, assess the severity of the condition, guide treatment decisions, and provide information for genetic counseling and family planning.
How to Prepare
- No fasting required for this test
- Wear loose clothing for easy access during blood draw
- Bring a valid prescription and identification
- Inform the phlebotomist about any medications or health conditions
- Ensure proper sample labeling to avoid rejection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for KRT1 gene mutations in Epidermolytic Hyperkeratosis is crucial for accurate diagnosis and genetic counseling. Early detection can guide management and family planning. Always consult with a genetic counselor before and after testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed, clotted, or contaminated blood samples
- Incorrect labeling or mismatched patient information
- Damaged or improperly stored FTA Card samples
Understanding Your Results
Negative Result
No pathogenic variants detected in the KRT1 gene; clinical correlation is recommended if symptoms persist.
Positive Result
Pathogenic mutation detected; confirms diagnosis of Epidermolytic Hyperkeratosis and guides treatment and genetic counseling.
Variant of Uncertain Significance (VUS)
A genetic variant with unknown clinical significance; further testing or family studies may be needed for clarification.
Likely Pathogenic/Benign Variant
Variants with high likelihood of being disease-causing or benign; clinical management based on assessment.
Consult a doctor or genetic counselor if symptoms worsen, if planning pregnancy, if family history of EHK exists, or if genetic counseling is needed based on test results.
Limitations
- ⚠May not detect all types of genetic variations, such as large deletions or insertions
- ⚠Does not assess for other genetic conditions beyond KRT1 gene
- ⚠Results may require confirmation with Sanger sequencing in some cases
- ⚠Cannot predict disease severity or progression in all individuals
Risks & Considerations
- ●Minimal risk from blood draw: bruising, pain, or infection at puncture site
- ●No significant risks from saliva collection
- ●Emotional impact from genetic results may require counseling support
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample type or collection method
- ●Hemolyzed or clotted blood samples
Compare With Similar Tests
| Test | KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic Test | Skin Biopsy with Histopathology | KRT10 Gene Sequencing | Sanger Sequencing | Ichthyosis Comprehensive Panel |
|---|---|---|---|---|---|
| Comparison | KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic Test | Biopsy examines skin structure under microscope but may not identify specific genetic mutations; NGS provides genetic confirmation. | Tests for mutations in KRT10 gene associated with similar skin disorders; KRT1 test is specific for EHK. | Traditional sequencing method for known mutations; NGS is more comprehensive for detecting multiple variants in KRT1 gene. | Panel tests multiple genes for ichthyosis disorders; KRT1 test is targeted for Epidermolytic Hyperkeratosis. |
Frequently Asked Questions
What is the cost of the KRT1 Gene Epidermolytic Hyperkeratosis NGS Genetic Test?
How is the test performed?
What are the symptoms of Epidermolytic Hyperkeratosis?
Is genetic testing necessary for diagnosing Epidermolytic Hyperkeratosis?
How long does it take to get test results?
Is home sample collection available for this test?
What is the accuracy of the NGS test for EHK?
Can this test be used for prenatal diagnosis?
What should I do before getting the test?
How do I interpret the test results?
Is the test covered by insurance?
Where can I get the KRT1 Gene Epidermolytic Hyperkeratosis NGS Genetic Test done?
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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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