PTCH1 Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Gorlin Syndrome Detection
The PTCH1 Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test represents a cutting-edge approach to diagnosing Gorlin syndrome, a rare genetic disorder characterized by multiple basal cell carcinomas, jaw cysts, and various skeletal abnormalities. This sophisticated genetic test utilizes next-generation sequencing technology to provide unparalleled accuracy in detecting mutations within the PTCH1 gene, which plays a critical role in the hedgehog signaling pathway essential for normal embryonic development and tissue regulation.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based analysis specifically targets the PTCH1 gene, examining it for pathogenic variants that disrupt normal protein function. The test identifies:
- Point mutations affecting single nucleotides
- Small insertions and deletions within the gene sequence
- Copy number variations that may impact gene dosage
- Splice site mutations affecting RNA processing
- Frameshift mutations leading to premature stop codons
Who Should Consider PTCH1 Genetic Testing
This test is particularly recommended for individuals presenting with:
- Multiple basal cell carcinomas developing before age 30
- Recurrent jaw keratocysts or odontogenic keratocysts
- Characteristic facial features including macrocephaly and frontal bossing
- Palmar or plantar pits on hands and feet
- Calcification of the falx cerebri visible on brain imaging
- Family history of Gorlin syndrome or related symptoms
- Skeletal abnormalities such as bifid ribs or vertebral anomalies
- Medulloblastoma or other childhood brain tumors
Significant Benefits of Early Genetic Detection
Undergoing PTCH1 genetic testing provides numerous advantages for patients and their families:
- Early Intervention Opportunities: Enables proactive surveillance and preventive measures before significant complications develop
- Personalized Management Strategies: Guides dermatological monitoring frequency and treatment approaches
- Family Planning Guidance: Provides crucial information about inheritance patterns and recurrence risks
- Comprehensive Risk Assessment: Identifies associated risks for other manifestations like medulloblastoma
- Psychological Relief: Reduces uncertainty and empowers informed healthcare decisions
- Multidisciplinary Care Coordination: Facilitates appropriate referrals to dermatology, dentistry, and other specialists
Understanding Your Genetic Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates a pathogenic mutation in the PTCH1 gene, confirming Gorlin syndrome diagnosis and guiding personalized management protocols
- Negative Result: Suggests absence of detectable PTCH1 mutations, though clinical follow-up may still be recommended based on symptoms
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and potential family studies
- Inconclusive Result: May necessitate additional testing or alternative diagnostic approaches
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States, with convenient 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 expert guidance regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks impact your health decisions. Our PTCH1 Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test provides the clarity you need for informed medical management and family planning. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or simple blood spot cards, accessing this vital genetic information has never been more convenient.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is prepared to answer your questions, discuss pre-test genetic counseling requirements, and guide you through the testing process with compassion and expertise.
