KRT10 Gene Epidermolytic Hyperkeratosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Skin Disorders
The KRT10 Gene Epidermolytic Hyperkeratosis NGS Genetic DNA Test represents a breakthrough in dermatological genetic diagnostics, offering precise identification of mutations responsible for epidermolytic hyperkeratosis (EH), also known as bullous congenital ichthyosiform erythroderma. This rare autosomal dominant genetic disorder affects keratin formation in the skin, leading to significant dermatological manifestations that can impact quality of life and require specialized medical management.
What This Advanced Genetic Test Detects
Our state-of-the-art Next-Generation Sequencing (NGS) technology comprehensively analyzes the KRT10 gene to identify pathogenic variants that disrupt normal keratinocyte function. The test specifically detects:
- Point mutations in the KRT10 gene affecting keratin 10 protein structure
- Frameshift mutations leading to abnormal keratin filament assembly
- Nonsense and missense variants impacting epidermal integrity
- Genetic alterations responsible for disrupted skin barrier function
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Newborns with widespread blistering and skin fragility
- Progressive hyperkeratosis developing after infancy
- Family history of epidermolytic hyperkeratosis or similar skin conditions
- Palmoplantar keratoderma with associated skin manifestations
- Recurrent skin infections due to compromised barrier function
- Unexplained erythroderma with scaling and thickening
Significant Benefits of Genetic Testing
Undergoing the KRT10 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms clinical suspicions and differentiates from other ichthyosis types
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of keratin disorders and treatment development
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of findings:
- Positive Result: Identifies a pathogenic variant in KRT10 gene, confirming epidermolytic hyperkeratosis diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Important for family members and reproductive planning
All results are accompanied by detailed explanations and genetic counseling recommendations to ensure complete understanding and appropriate next steps.
Test Pricing and Sample Requirements
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | KRT10 Gene Epidermolytic Hyperkeratosis NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Rate | $700 |
| Turnaround Time | 3-4 Weeks | – |
| Sample Types | Blood, Extracted DNA, or Blood Spot on FTA Card | – |
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing procedures
- Detailed dermatological examination findings
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 network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our expert team of genetic counselors and dermatologists is ready to guide you through the testing process and provide comprehensive support for your genetic health journey.
Book your KRT10 Gene Epidermolytic Hyperkeratosis NGS Genetic DNA Test today by calling our dedicated genetic testing specialists at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with confidence and precision.
