KRT1 Gene Epidermolytic Hyperkeratosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Skin Disorders
The KRT1 Gene Epidermolytic Hyperkeratosis NGS Genetic DNA Test represents a breakthrough in dermatological genetic testing, offering precise identification of mutations responsible for epidermolytic hyperkeratosis. This rare genetic skin disorder, also known as bullous congenital ichthyosiform erythroderma, affects the skin’s structural integrity and requires specialized diagnostic approaches for accurate management.
What This Advanced Genetic Test Measures
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the KRT1 gene, which encodes keratin 1 – a crucial structural protein in the epidermis. This test specifically detects:
- Point mutations affecting keratin filament formation
- Insertion and deletion variants disrupting protein structure
- Missense mutations causing abnormal keratin aggregation
- Genetic variations affecting epidermal differentiation
- Inherited mutations passed through autosomal dominant patterns
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Newborns with widespread blistering and skin redness
- Progressive skin thickening and scaling developing after infancy
- Family history of epidermolytic hyperkeratosis or similar skin conditions
- Recurrent skin infections due to compromised skin barrier
- Unexplained palmoplantar keratoderma (thickening of palms and soles)
- Suspected genetic skin disorders unresponsive to conventional treatments
Significant Benefits of Genetic Testing
Undergoing the KRT1 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out epidermolytic hyperkeratosis with precision
- 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
- Early Intervention: Facilitates timely management strategies for better outcomes
- Research Contribution: Advances understanding of keratin-related disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates the presence of KRT1 gene mutation, confirming epidermolytic hyperkeratosis diagnosis
- Negative Result: Suggests absence of detectable KRT1 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical interpretation
- Carrier Status: Determines inheritance patterns and recurrence risks
All results include detailed explanations and recommendations for follow-up care with dermatology and genetics specialists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 centers ensures accessible genetic testing services nationwide.
Pre-Test Preparation Requirements
To ensure optimal testing accuracy, please provide:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Detailed information about affected family members
- Previous dermatological evaluations and treatments
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic skin conditions affect your quality of life. Our KRT1 Gene Epidermolytic Hyperkeratosis NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. With results available in just 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call us now at +1(267) 388-9828 to schedule your genetic testing appointment or book online through our secure patient portal. Our genetic counselors and dermatology specialists are ready to guide you through every step of the testing process.
