SUFU Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Gorlin Syndrome
The SUFU Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals at risk of Gorlin syndrome, also known as basal cell nevus syndrome. This sophisticated next-generation sequencing test provides definitive answers about genetic predisposition to this complex hereditary condition that affects multiple body systems and significantly increases cancer risks.
What Does This Test Measure?
This advanced genetic test specifically analyzes the SUFU gene (Suppressor of Fused Homolog) using cutting-edge NGS technology to identify pathogenic mutations associated with basal cell nevus syndrome. The test detects:
- Point mutations and small insertions/deletions in the SUFU gene
- Genetic variations that disrupt normal hedgehog signaling pathway function
- Inherited and de novo mutations responsible for Gorlin syndrome development
- Specific genetic markers linked to increased basal cell carcinoma susceptibility
Who Should Consider SUFU Gene Testing?
This genetic test is recommended for individuals presenting with clinical features suggestive of Gorlin syndrome, including:
- Multiple basal cell carcinomas appearing before age 30
- Jaw cysts (odontogenic keratocysts) requiring repeated surgical interventions
- Characteristic facial features including macrocephaly and frontal bossing
- Skeletal abnormalities such as bifid ribs or vertebral anomalies
- Palmar or plantar pits indicating abnormal skin development
- Family history of basal cell nevus syndrome or related conditions
- Medulloblastoma or other childhood brain tumors
- Developmental delays or intellectual disabilities of unknown origin
Clinical Benefits of SUFU Gene Testing
Early genetic identification through SUFU gene testing provides numerous clinical advantages:
- Proactive Cancer Surveillance: Enables regular skin cancer screening and early intervention
- Personalized Treatment Planning: Guides appropriate medical management and surgical approaches
- Family Risk Assessment: Identifies at-risk relatives for preventive monitoring
- Reproductive Planning: Informs family planning decisions and prenatal testing options
- Psychological Relief: Provides definitive answers and reduces diagnostic uncertainty
- Comprehensive Care Coordination: Facilitates multidisciplinary specialist involvement
Understanding Your Test Results
Your SUFU gene test results will fall into one of several categories, each with specific implications:
- Positive Result: Indicates a pathogenic mutation in the SUFU gene, confirming Gorlin syndrome diagnosis and necessitating comprehensive medical follow-up
- Negative Result: Suggests no detectable SUFU mutation, though clinical monitoring may still be recommended based on symptoms
- Variant of Uncertain Significance: Identifies a genetic change with unknown clinical impact, requiring ongoing research correlation
- Carrier Status: For family members, indicates inheritance pattern and reproductive risks
All results should be reviewed with a certified genetic counselor who can provide personalized interpretation and management recommendations.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| SUFU Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| SUFU Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Pediatrics and Genetics
- Department: Genetics
- Disease Classification: Dysmorphology
Pre-Test Requirements
Before undergoing SUFU gene testing, patients should provide:
- Complete clinical history documenting symptoms and family patterns
- Genetic counseling session to create detailed pedigree analysis
- Informed consent understanding test implications and potential outcomes
- Documentation of previous diagnostic evaluations and imaging studies
Nationwide Testing Availability
We provide 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 other cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks impact your health decisions. The SUFU Gene Basal Cell Nevus Syndrome NGS Genetic DNA Test provides the clarity needed for informed medical management and family planning. Our expert team is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic health and protecting your future.
