KRT9 Gene Epidermolytic Palmoplantar Keratoderma NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Skin Disorders
The KRT9 Gene Epidermolytic Palmoplantar Keratoderma NGS Genetic DNA Test represents a breakthrough in dermatological genetic testing, offering precise identification of mutations responsible for this inherited skin condition. Epidermolytic palmoplantar keratoderma is characterized by abnormal thickening of the skin on palms and soles, often causing significant discomfort and impacting daily activities. Our advanced testing methodology provides definitive answers for patients and families affected by this challenging condition.
What This Test Measures and Detects
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the KRT9 gene, which encodes keratin 9 – a structural protein essential for maintaining the integrity of skin cells in palms and soles. The test specifically identifies:
- Point mutations in the KRT9 gene coding regions
- Small insertions and deletions affecting protein structure
- Pathogenic variants known to cause epidermolytic palmoplantar keratoderma
- Novel genetic alterations with potential clinical significance
By examining the complete coding sequence and flanking regions of the KRT9 gene, our test provides comprehensive coverage with exceptional sensitivity and specificity, ensuring accurate detection of both known and novel mutations.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive thickening of skin on palms and soles beginning in infancy or childhood
- Yellowish, waxy appearance of skin on hands and feet
- Painful fissures and cracking in affected areas
- Family history of similar skin conditions
- Diagnostic uncertainty regarding palmoplantar skin abnormalities
- Planning for family and wanting to understand inheritance risks
Individuals with symptoms typically present with symmetrical involvement of both palms and soles, often accompanied by hyperhidrosis (excessive sweating) and secondary infections due to skin breakdown.
Significant Benefits of Genetic Testing
Undergoing the KRT9 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out epidermolytic palmoplantar keratoderma with molecular precision
- Personalized Treatment Planning: Enables targeted therapeutic approaches based on specific genetic findings
- Genetic Counseling: Provides essential information for family planning and inheritance risk assessment
- Early Intervention: Facilitates proactive management strategies to prevent complications
- Psychological Relief: Offers clarity and reduces diagnostic uncertainty for affected individuals
- Research Contribution: Advances understanding of keratin disorders and potential future treatments
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates the presence of a pathogenic mutation in the KRT9 gene, confirming the diagnosis of epidermolytic palmoplantar keratoderma. This information helps guide appropriate management and informs family members about potential risks.
- Negative Result: Suggests that no disease-causing mutations were detected in the KRT9 gene. However, clinical correlation with symptoms and family history remains important, as other genetic or environmental factors may contribute to similar presentations.
- Variant of Uncertain Significance: Occasionally, genetic changes of unknown clinical importance may be identified. These findings require careful interpretation in the context of clinical symptoms and family history.
All results are accompanied by detailed explanations and recommendations for next steps, including referral to genetic specialists when appropriate.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Informed consent for genetic testing
Nationwide 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 easy access to testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of epidermolytic palmoplantar keratoderma, don’t delay in seeking definitive answers. Our specialized genetic testing provides the clarity needed for informed healthcare decisions and personalized management strategies.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your KRT9 genetic test consultation and take control of your genetic health journey.
