KRT6A Gene Pachyonychia Congenita Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Inherited Skin Disorders
The KRT6A Gene Pachyonychia Congenita Type 3 NGS Genetic DNA Test represents a significant advancement in genetic diagnostics for rare dermatological conditions. This specialized test utilizes state-of-the-art Next-Generation Sequencing (NGS) technology to analyze the KRT6A gene, which plays a critical role in keratin formation and skin integrity. Pachyonychia Congenita Type 3 is a rare autosomal dominant disorder characterized by distinctive nail and skin abnormalities, and accurate genetic diagnosis is essential for proper management and treatment planning.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically targets the KRT6A gene to identify pathogenic variants associated with Pachyonychia Congenita Type 3. The test examines:
- Complete coding regions of the KRT6A gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants and novel mutations
- Single nucleotide variants, insertions, and deletions
- Genetic markers specific to this rare dermatological condition
The test provides definitive molecular diagnosis by detecting mutations that disrupt normal keratin filament formation, leading to the characteristic clinical features of this disorder.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Thickened, discolored nails (pachyonychia) from birth or early childhood
- Painful palmoplantar keratoderma (thickened skin on palms and soles)
- Oral leukokeratosis (white patches in the mouth)
- Follicular keratosis and skin cysts
- Family history of similar nail and skin abnormalities
- Unexplained dermatological symptoms matching PC Type 3 characteristics
- Individuals planning pregnancy with family history of the condition
Key Benefits of KRT6A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Pachyonychia Congenita Type 3 with molecular precision
- Personalized Treatment: Enables targeted management strategies based on specific genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Symptom Management: Helps develop effective strategies for managing painful skin and nail symptoms
- Early Intervention: Allows for proactive management in affected family members
- Research Contribution: Contributes to ongoing understanding of rare genetic skin disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies a pathogenic variant in the KRT6A gene, confirming diagnosis of Pachyonychia Congenita Type 3
- Negative Result: No pathogenic variants detected in the KRT6A gene, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Important information for family members and reproductive planning
All results include detailed explanations and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| KRT6A Gene Pachyonychia Congenita Type 3 NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network ensures accessible genetic testing services for patients nationwide.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of Pachyonychia Congenita Type 3, don’t wait to get answers. Our specialized genetic testing provides the clarity needed for proper diagnosis and management of this rare condition.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your KRT6A genetic test or to speak with our genetic counseling team. Our experts 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 blood spots on FTA cards, we make genetic testing convenient and accessible. Take control of your genetic health today with our comprehensive KRT6A Gene Pachyonychia Congenita Type 3 NGS Genetic DNA Test.
