KRT14 Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Skin Fragility Disorders
The KRT14 Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited skin conditions. This advanced genetic analysis specifically targets mutations in the KRT14 gene, which encodes keratin 14 – a critical structural protein essential for maintaining skin integrity and resilience.
What This Test Measures and Detects
Our sophisticated Next-Generation Sequencing (NGS) technology provides comprehensive analysis of the entire KRT14 gene, identifying:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic variants associated with autosomal recessive inheritance
- Novel mutations not previously documented
The test specifically focuses on identifying mutations that disrupt the structural integrity of keratin intermediate filaments, leading to the characteristic skin fragility seen in epidermolysis bullosa simplex.
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals experiencing:
- Unexplained skin blistering following minor trauma or friction
- Family history of epidermolysis bullosa or similar skin conditions
- Recurrent skin erosions and healing difficulties
- Nail dystrophy or abnormal nail growth patterns
- Oral mucosal involvement with blistering
- Consanguineous parentage with skin fragility concerns
- Previous inconclusive skin biopsy results
Clinical Benefits of KRT14 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out KRT14-related epidermolysis bullosa simplex
- Family Planning Guidance: Identifies carrier status and recurrence risks
- Personalized Management: Informs appropriate wound care and preventive strategies
- Prognostic Information: Helps predict disease severity and progression
- Genetic Counseling: Provides basis for informed reproductive decisions
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your comprehensive genetic report will include detailed interpretation of findings:
- Positive Result: Identifies pathogenic mutations confirming diagnosis, with guidance on management and family implications
- Negative Result: No KRT14 mutations detected, suggesting alternative diagnoses may need consideration
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | KRT14 Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Accessibility
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, and San Jose. Our network of certified collection facilities ensures accessible genetic testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited skin conditions affect your quality of life. Our expert team of genetic counselors and dermatology specialists are ready to guide you through the testing process and help interpret your results. Early genetic diagnosis can significantly improve management strategies and provide clarity for future health decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your KRT14 gene test. Take the first step toward definitive diagnosis and personalized care management.
