CTSC Gene Papillon-Lefevre Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skin and Bone Disorders
The CTSC Gene Papillon-Lefevre Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited conditions affecting multiple body systems. This advanced genetic analysis specifically targets the CTSC gene, which encodes cathepsin C, a crucial enzyme involved in immune system function and tissue maintenance. Papillon-Lefevre syndrome is a rare autosomal recessive disorder characterized by distinctive skin and dental abnormalities that significantly impact quality of life.
What Does This Test Measure and Detect?
Our comprehensive NGS-based genetic test precisely identifies mutations in the CTSC gene that cause Papillon-Lefevre syndrome. The test analyzes:
- Complete CTSC gene sequencing for point mutations
- Detection of small insertions and deletions
- Identification of splice site variants
- Assessment of copy number variations
- Comprehensive variant analysis and interpretation
Using state-of-the-art Next-Generation Sequencing technology, we achieve exceptional accuracy in detecting pathogenic variants that disrupt cathepsin C function, leading to the characteristic symptoms of this rare syndrome.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with:
- Skin Manifestations: Severe palmoplantar keratosis (thickening of palms and soles), erythematous plaques, and hyperkeratotic lesions
- Dental Abnormalities: Premature loss of primary and permanent teeth, severe periodontal disease, and gingival inflammation
- Family History: Individuals with family members diagnosed with Papillon-Lefevre syndrome
- Undiagnosed Symptoms: Patients with unexplained skin and dental abnormalities suggestive of genetic disorders
- Reproductive Planning: Couples with family history seeking genetic counseling
Key Benefits of CTSC Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Papillon-Lefevre syndrome with high precision
- Personalized Treatment: Enables targeted management strategies for skin and dental care
- Early Intervention: Facilitates proactive dental preservation and skin management
- Genetic Counseling: Provides accurate recurrence risk assessment for family planning
- Differential Diagnosis: Helps distinguish from other palmoplantar keratoderma conditions
- Research Contribution: Contributes to understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies pathogenic CTSC gene mutations confirming Papillon-Lefevre syndrome diagnosis
- Negative Result: No disease-causing mutations detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass the condition to offspring
All results include detailed interpretation by our board-certified genetic specialists and recommendations for next steps in management and family counseling.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | CTSC Gene Papillon-Lefevre Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Accessibility and Support
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 genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our CTSC Gene Papillon-Lefevre Syndrome NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Take control of your genetic health with confidence and precision.
