Find Clarity About Congenital Contractural Arachnodactyly
When you notice unusual physical features in your child or yourself – elongated fingers, joint stiffness, or skeletal concerns – it’s natural to feel worried and uncertain. Our FBN2 Gene Test provides the definitive answers you need to understand these symptoms and take control of your family’s health journey. For South African families seeking clarity about congenital contractural arachnodactyly, this test represents hope, understanding, and a path forward.
Understanding the FBN2 Gene Test
This specialised genetic test examines the FBN2 gene using Next-Generation Sequencing (NGS) technology, the most advanced method available for genetic analysis. The FBN2 gene provides instructions for making fibrillin-2, a protein essential for connective tissue formation. When mutations occur in this gene, it can lead to congenital contractural arachnodactyly – a condition characterised by joint contractures, elongated fingers and toes, and other skeletal abnormalities.
Our test doesn’t just identify if a mutation exists; it provides comprehensive information about the specific genetic changes, helping your healthcare team develop the most appropriate management plan for your unique situation.
Who Should Consider This Test?
This test is particularly important if you or your child experiences:
- Unusually long, slender fingers and toes (arachnodactyly)
- Joint stiffness or contractures present from birth
- Family history of similar skeletal features
- Curvature of the spine (scoliosis or kyphosis)
- Abnormally shaped chest or other skeletal concerns
- Delayed motor development due to joint limitations
Even if symptoms seem mild, early detection can prevent complications and ensure proper monitoring throughout development.
Why Early Detection Matters for Your Health
Getting a definitive diagnosis through our FBN2 gene test provides numerous life-changing benefits:
- Peace of Mind: End the uncertainty and anxiety about unexplained physical features
- Proactive Management: Develop targeted treatment plans before complications arise
- Family Planning Insights: Understand inheritance patterns for future family decisions
- Prevent Complications: Early intervention can prevent joint damage and mobility issues
- Personalised Care: Tailor medical monitoring to your specific genetic profile
Many South African families have found that knowing their genetic status empowered them to make informed healthcare decisions and access appropriate support services.
Understanding Your Test Results
We understand that waiting for genetic test results can be anxiety-provoking. That’s why we provide comprehensive support throughout the process:
Positive Result: If a mutation is detected, our genetic counsellor will explain what this means for your health, discuss management options, and help you understand inheritance patterns. You’ll receive a detailed report for your healthcare provider.
Negative Result: If no mutation is found, we’ll discuss what this means for your symptoms and whether additional testing might be appropriate.
Uncertain Result: In rare cases where the significance of a genetic change is unclear, we provide guidance on next steps and ongoing monitoring.
Remember: A genetic diagnosis doesn’t define you or your child – it provides information to help you live your healthiest life.
Transparent Pricing – No Hidden Costs
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| FBN2 Gene Test with Genetic Counselling | R9,350 | R6,700 | R2,650 |
| Turnaround Time | 3-4 Weeks | ||
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card | ||
Your investment includes the comprehensive genetic test, professional genetic counselling session, detailed results interpretation, and ongoing support. Compared to potential lifelong healthcare costs from undiagnosed conditions, this test represents exceptional value for your family’s health.
Why Trust Oracle Genomics?
As South Africa’s leading genetic testing provider, we combine medical excellence with compassionate care:
- Nationwide Coverage: Accessible testing across Johannesburg, Cape Town, Durban, Pretoria and throughout South Africa
- Expert Team: Specialist dermatologists and genetic counsellors with extensive experience
- Advanced Technology: State-of-the-art NGS testing for maximum accuracy
- Complete Support: From initial consultation through results interpretation
- Proven Track Record: Thousands of South African families trust us with their genetic health
Take the First Step Toward Clarity
Don’t let uncertainty about congenital contractural arachnodactyly control your family’s future. Our genetic counsellors are ready to help you understand your options and guide you through the testing process.
Book Your Test Today: Call 0861 123 456 or visit our website to schedule your genetic counselling session and testing.
Limited Time Offer: The special price of R6,700 won’t last forever. Secure your family’s health future while this significant saving is available.
Every day you wait is another day without answers. Take control of your genetic health journey today.
