PTCH1 Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Cancer Risk
The PTCH1 Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test represents a cutting-edge approach to identifying individuals at risk for Gorlin syndrome, a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, and various developmental abnormalities. This advanced genetic analysis provides crucial insights into hereditary cancer predisposition, enabling proactive healthcare management and personalized prevention strategies.
What Does This Test Measure?
This comprehensive NGS-based test specifically analyzes the PTCH1 gene, which functions as a tumor suppressor in the hedgehog signaling pathway. The test detects:
- Pathogenic variants and mutations in the PTCH1 gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the PTCH1 locus
- Genetic markers associated with basal cell nevus syndrome
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Multiple basal cell carcinomas developing before age 30
- Family history of basal cell nevus syndrome
- Jaw cysts or odontogenic keratocysts
- Palmar or plantar pits
- Calcification of the falx cerebri
- Developmental abnormalities including macrocephaly
- Medulloblastoma or other childhood brain tumors
- Ovarian fibromas or cardiac fibromas
Clinical Benefits of Testing
Undergoing PTCH1 genetic testing provides numerous advantages:
- Early Risk Identification: Detect genetic predisposition before symptom onset
- Personalized Surveillance: Implement targeted screening protocols
- Family Planning Guidance: Inform reproductive decisions and genetic counseling
- Proactive Management: Enable early intervention and preventive measures
- Comprehensive Care Planning: Coordinate multidisciplinary healthcare approach
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Indicates the presence of a pathogenic PTCH1 variant, confirming Gorlin syndrome diagnosis and necessitating comprehensive surveillance
- Negative Result: No pathogenic variants detected, though clinical monitoring may still be recommended based on family history
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- No Mutation Detected: Does not completely rule out the condition in cases with strong clinical suspicion
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Oncologist and Genetics Department
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed pedigree chart documenting family members affected by PTCH1-related conditions
- Discussion of potential implications and limitations of testing
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures accessible genetic testing services with consistent quality standards nationwide.
Take Control of Your Genetic Health
Don’t wait to understand your genetic cancer risk. Our PTCH1 Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test provides the comprehensive genetic information needed for informed healthcare decisions. Early detection through genetic testing can significantly impact your long-term health outcomes and provide peace of mind for you and your family.
Book your genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take the first step toward personalized cancer risk management and comprehensive genetic health assessment.
