Understanding Beare-Stevenson Cutis Gyrata Syndrome
If you’re worried about unusual skin characteristics or craniofacial features in your child, you’re not alone. Many South African parents seek answers when they notice deep skin folds, particularly around the scalp and face, combined with other developmental concerns. Our FGFR2 genetic test provides the clarity you need to understand these symptoms and plan appropriate care.
What This Test Detects
This advanced genetic test specifically identifies mutations in the FGFR2 gene, which is responsible for Beare-Stevenson Cutis Gyrata Syndrome – a rare congenital condition affecting skin and bone development. Using Next Generation Sequencing (NGS) technology, we examine the entire FGFR2 gene with exceptional accuracy, ensuring you receive reliable results for this complex condition.
Who Should Consider This Test
This test is particularly important if you or your child experience:
- Deep, furrowed skin folds (cutis gyrata) especially on the scalp
- Craniofacial abnormalities including craniosynostosis
- Developmental delays or intellectual concerns
- Family history of similar skin or skeletal conditions
- Unexplained acanthosis nigricans (dark, velvety skin patches)
Why Early Detection Matters
Early genetic diagnosis can significantly impact treatment outcomes and quality of life. Understanding your FGFR2 status helps:
- Guide appropriate medical interventions and specialist referrals
- Provide clarity for family planning decisions
- Enable early intervention for developmental concerns
- Reduce uncertainty and anxiety about your child’s health future
- Connect you with appropriate support networks and resources
Understanding Your Results
Our comprehensive approach includes genetic counselling to help you understand your results. Whether your test shows a positive or negative result, our specialists will explain what this means for your health and provide clear guidance on next steps. We’ll help you understand inheritance patterns and what your results mean for other family members.
Pricing and Value
| Regular Price | ZAR 9,350 |
| Special Price | ZAR 6,700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Accessibility
We provide testing services across South Africa, with convenient collection points in Johannesburg, Cape Town, Durban, Pretoria, and other major centres. Our network ensures you can access this specialised testing regardless of your location.
Take Action Today
Don’t let uncertainty about your child’s health continue. Early genetic testing can provide the answers you need to make informed healthcare decisions. Our experienced team, including dermatology specialists and genetic counsellors, is here to support you through every step of this journey.
Book your FGFR2 genetic test today and take the first step toward understanding your family’s genetic health. Call us now or complete our online booking form to schedule your test and genetic counselling session.
