KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skin Fragility Disorders
The KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited skin disorders. This advanced test specifically targets mutations in the KRT5 gene, which plays a critical role in maintaining skin integrity and structural stability. Epidermolysis Bullosa Simplex (EBS) is a group of genetic conditions characterized by skin fragility and blistering upon minor trauma or friction.
What Does This Test Measure and Detect?
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire KRT5 gene for pathogenic variants. The test specifically detects:
- Point mutations affecting keratin 5 protein structure
- Missense mutations disrupting intermediate filament assembly
- Nonsense mutations leading to premature protein termination
- Frameshift mutations altering protein coding sequences
- Deletions and insertions affecting gene function
- Dominant negative mutations characteristic of EBS
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Unexplained skin blistering and erosions from minor trauma
- Fragile skin that tears or blisters easily
- Family history of Epidermolysis Bullosa Simplex
- Recurrent oral mucosal blistering and erosions
- Nail dystrophy and thickening
- Palmoplantar keratoderma (thickened skin on palms and soles)
- Infants with congenital blistering conditions
- Individuals planning pregnancy with family history of EBS
Clinical Benefits of KRT5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms EBS subtype and guides appropriate management
- Personalized Treatment: Enables targeted wound care and preventive strategies
- Genetic Counseling: Provides crucial information for family planning decisions
- Early Intervention: Facilitates proactive management to prevent complications
- Differential Diagnosis: Helps distinguish EBS from other blistering disorders
- Prognostic Information: Offers insights into disease severity and progression
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic KRT5 mutation, confirming EBS diagnosis
- Negative Result: Suggests EBS is unlikely, though other genetic forms may require investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns for family planning
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| KRT5 Gene Epidermolysis Bullosa Simplex NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Sample Collection and Processing
This test requires one of the following sample types:
- Blood sample (standard venipuncture)
- Extracted DNA from previous testing
- One drop of blood on FTA card
Turnaround Time: 3 to 4 weeks
Specialty: Dermatology, Genetics
Method: Next-Generation Sequencing (NGS) Technology
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited skin conditions affect your quality of life. Our KRT5 genetic test provides the clarity needed for proper diagnosis and management. Early genetic testing can significantly improve outcomes and prevent unnecessary suffering.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our genetic counselors are available to discuss your concerns and guide you through the testing process.
Take the first step toward understanding your genetic health and managing Epidermolysis Bullosa Simplex effectively. Book your test now and receive comprehensive genetic insights from America’s leading genetic diagnostics provider.
