PTCH2 Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Cancer Risk
The PTCH2 Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test represents a breakthrough in cancer genetics, offering precise detection of germline mutations associated with Gorlin syndrome. This advanced diagnostic tool utilizes cutting-edge next-generation sequencing technology to identify pathogenic variants in the PTCH2 gene, providing crucial information for individuals and families at risk for hereditary cancer syndromes.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the PTCH2 gene, which plays a critical role in the hedgehog signaling pathway. When mutated, this gene disrupts normal cellular growth regulation, leading to increased susceptibility to:
- Multiple basal cell carcinomas developing at an early age
- Jaw keratocysts and odontogenic keratocysts
- Palmar and plantar pits
- Calcification of the falx cerebri
- Medulloblastoma and other tumor types
- Skeletal abnormalities including bifid ribs
Who Should Consider This Genetic Test
This test is particularly recommended for individuals exhibiting:
- Multiple basal cell carcinomas before age 30
- Family history of Gorlin syndrome or basal cell nevus syndrome
- Jaw cysts or keratocysts requiring multiple surgeries
- Characteristic facial features associated with the syndrome
- Early-onset medulloblastoma diagnosis
- Skeletal abnormalities suggestive of hereditary cancer predisposition
- Unexplained calcification of the falx cerebri
Clinical Benefits of Genetic Testing
Early detection through PTCH2 genetic testing provides numerous clinical advantages:
- Proactive Cancer Surveillance: Enables regular skin examinations and early intervention for basal cell carcinomas
- Family Risk Assessment: Identifies at-risk relatives who may benefit from genetic testing
- Personalized Prevention Strategies: Guides sun protection measures and avoidance of radiation therapy
- Reproductive Planning: Informs family planning decisions for individuals with hereditary mutations
- Comprehensive Medical Management: Facilitates multidisciplinary care coordination
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Indicates the presence of a pathogenic PTCH2 mutation, confirming Gorlin syndrome diagnosis and necessitating comprehensive medical follow-up
- Negative Result: No mutation detected, significantly reducing but not completely eliminating cancer risk
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical significance requiring ongoing research correlation
- Benign Variant: Common genetic variations not associated with increased cancer risk
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with specialized genetic testing centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to understand your hereditary cancer risk. Our genetic counseling team is available to discuss your testing options and provide comprehensive pre-test counseling. Early detection through PTCH2 genetic testing can significantly impact your long-term health outcomes and provide peace of mind for you and your family.
Call or WhatsApp our genetic specialists today at +1(267) 388-9828 to schedule your consultation and genetic testing appointment. Our team will guide you through the testing process, answer your questions, and ensure you receive the comprehensive care you deserve.
