KRT14 Gene Epidermolysis Bullosa Simplex Dowling-Meara Type NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Skin Blistering Disorders
The KRT14 Gene Epidermolysis Bullosa Simplex Dowling-Meara Type NGS Genetic DNA Test represents a breakthrough in dermatological genetic diagnostics. This advanced testing methodology provides precise identification of mutations in the keratin 14 (KRT14) gene, which plays a critical role in maintaining skin structural integrity and preventing blister formation.
What This Test Measures and Detects
Our specialized NGS genetic test specifically targets the KRT14 gene located on chromosome 17q21.2, which encodes keratin 14—a fundamental structural protein in basal keratinocytes. The test identifies:
- Point mutations affecting keratin filament assembly
- Missense mutations disrupting intermediate filament formation
- Frameshift mutations leading to abnormal protein structure
- Nonsense mutations causing premature termination of protein synthesis
- Specific hotspot mutations associated with Dowling-Meara subtype severity
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is particularly recommended for individuals presenting with:
- Recurrent skin blistering following minor mechanical trauma
- Herpetiform blister clusters characteristic of Dowling-Meara EB
- Nail dystrophy and mucosal membrane involvement
- Family history of epidermolysis bullosa simplex
- Unexplained neonatal blistering or skin fragility
- Heat-induced blistering episodes
- Progressive palmoplantar keratoderma
Clinical Benefits of Genetic Testing
Undergoing KRT14 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Dowling-Meara subtype differentiation from other EB forms
- Genetic Counseling: Enables informed family planning decisions
- Personalized Management: Guides appropriate wound care and preventive strategies
- Prognostic Information: Helps predict disease severity and progression
- Therapeutic Guidance: Informs potential targeted treatment approaches
- Prenatal Testing: Allows for early detection in subsequent pregnancies
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your KRT14 gene analysis:
- Positive Result: Identifies specific pathogenic mutation(s) confirming diagnosis
- Negative Result: No detected mutations in analyzed KRT14 regions
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance pattern and recurrence risks
All results include detailed clinical correlations and are reviewed by our board-certified genetic specialists to ensure accurate interpretation and appropriate follow-up recommendations.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic skin conditions affect your quality of life. Our KRT14 Gene Epidermolysis Bullosa Simplex Dowling-Meara Type NGS Genetic DNA Test provides the clarity and confidence you need for effective disease management and informed healthcare decisions.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are available to answer your questions and guide you through the testing process.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or simple blood spot cards, getting the answers you need has never been more convenient. Take the first step toward understanding your genetic makeup and optimizing your dermatological care today.
