FGFR2 Gene Scaphocephaly, Maxillary Retrusion and Mental Retardation NGS Genetic DNA Test

Understanding Your Child’s Health Concerns

As a parent, noticing unusual head shape, facial features, or developmental delays in your child can be deeply concerning. You want answers, clarity, and a clear path forward for your child’s health and wellbeing. Our FGFR2 genetic test is specifically designed to provide the definitive answers you need about craniosynostosis conditions that affect skull development and brain function.

What This Test Detects

This advanced Next Generation Sequencing (NGS) test examines the FGFR2 gene for mutations that cause conditions like scaphocephaly (long, narrow head shape), maxillary retrusion (underdeveloped upper jaw), and associated developmental delays. The FGFR2 gene plays a crucial role in bone development, particularly in skull formation during infancy. When mutations occur, they can lead to premature fusion of skull bones, affecting both physical appearance and brain development.

Who Should Consider This Test

This test is essential for families where:

• Your infant shows an unusually long, narrow head shape (scaphocephaly)
• Your child has underdeveloped facial features, particularly the upper jaw
• There are concerns about developmental milestones or potential mental retardation
• There’s a family history of craniosynostosis or similar conditions
• Your paediatrician has noted unusual skull development patterns

Why Early Detection Matters for Your Family

Getting definitive answers through genetic testing provides multiple life-changing benefits:

• Early Intervention: Identify conditions before they cause more serious complications
• Treatment Planning: Work with specialists to create the right treatment approach
• Family Planning: Understand inheritance patterns for future family decisions
• Peace of Mind: Replace uncertainty with clear, actionable information
• Medical Management: Coordinate care with neurosurgeons, plastic surgeons, and developmental specialists

Understanding Your Results with Compassion

We know waiting for genetic results can be stressful. That’s why every test includes comprehensive genetic counselling to help you understand your results in clear, compassionate terms. Our genetic counsellors will:

• Explain your results in simple, understandable language
• Discuss what the findings mean for your child’s health
• Provide guidance on next steps and specialist referrals
• Help you understand inheritance patterns and family implications
• Offer emotional support throughout the process

Transparent Pricing & Exceptional Value

Nationwide Trust & Accessibility

Oracle Genomics brings world-class genetic testing to families across South Africa. With collection centres in Johannesburg, Cape Town, Durban, Pretoria and nationwide, we make advanced genetic testing accessible to every South African family. Our laboratory maintains 99.9% accuracy rates and follows international quality standards.

Take the First Step Toward Clarity

Don’t let uncertainty about your child’s development cause unnecessary stress and anxiety. Our FGFR2 genetic test provides the definitive answers you need to make informed decisions about your child’s health future.