KRT17 Gene Pachyonychia Congenita Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Skin and Nail Disorders
The KRT17 Gene Pachyonychia Congenita Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare dermatological conditions. This advanced genetic test specifically targets mutations in the KRT17 gene, which encodes keratin 17—a crucial structural protein essential for maintaining the integrity of skin, nails, and mucous membranes. When mutations occur in this gene, they disrupt normal cellular function, leading to the characteristic symptoms of Pachyonychia Congenita Type 2.
What This Test Measures and Detects
Our sophisticated Next-Generation Sequencing (NGS) technology comprehensively analyzes the entire KRT17 gene to identify pathogenic variants responsible for Pachyonychia Congenita Type 2. The test specifically detects:
- Point mutations affecting keratin 17 protein structure
- Insertion and deletion variants disrupting gene function
- Missense mutations altering amino acid sequences
- Frameshift mutations causing premature protein termination
- Specific genetic markers associated with disease severity
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with the following clinical symptoms:
- Painful Palmoplantar Keratoderma: Thickened skin on palms and soles causing significant discomfort
- Severe Nail Dystrophy: Abnormal nail growth, thickening, and discoloration
- Oral Leukokeratosis: White patches inside the mouth and on the tongue
- Follicular Keratosis: Rough, bumpy skin on elbows, knees, and buttocks
- Family History: Individuals with relatives diagnosed with Pachyonychia Congenita
- Unexplained Skin Conditions: Patients with treatment-resistant dermatological symptoms
Clinical Benefits of Genetic Testing
Undergoing the KRT17 genetic test provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and provides clear genetic confirmation
- Personalized Treatment: Enables targeted therapeutic approaches based on specific mutation type
- Genetic Counseling: Facilitates informed family planning decisions and risk assessment
- Early Intervention: Allows for proactive management of symptoms before they become severe
- Research Contribution: Helps advance scientific understanding of rare genetic disorders
- Psychological Relief: Provides answers and reduces the emotional burden of undiagnosed conditions
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies a pathogenic mutation in the KRT17 gene, confirming Pachyonychia Congenita Type 2 diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation with symptoms is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results include detailed interpretation by our board-certified genetic specialists, with specific recommendations for clinical management and follow-up care.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| KRT17 Gene Pachyonychia Congenita Type 2 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States, with convenient locations in 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 testing for patients nationwide.
Sample Collection and Processing
Our test requires minimal sample collection through one of the following methods:
- Blood sample drawn by certified phlebotomist
- Extracted DNA from previous genetic testing
- One drop of blood on FTA card for convenient at-home collection
Turnaround time for results is typically 3 to 4 weeks from sample receipt at our CLIA-certified laboratory.
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 understanding the benefits and limitations of genetic testing
Take Control of Your Genetic Health Today
Don’t let unexplained skin and nail symptoms affect your quality of life. Our KRT17 Gene Pachyonychia Congenita Type 2 NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With our discounted price of $500 USD and nationwide availability, comprehensive genetic testing has never been more accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized care.
