Understanding Your Family’s Eye Health: PITX2 Gene Testing for Axenfeld-Rieger Syndrome
When eye conditions run in your family, the uncertainty can be overwhelming. You worry about your children’s vision, wonder about inheritance patterns, and seek clarity about future health risks. Our PITX2 gene test provides the definitive answers South African families need to protect their vision and plan for healthy futures.
What This Test Reveals About Your Genetic Health
The PITX2 gene test uses advanced Next-Generation Sequencing (NGS) technology to identify specific mutations in the PITX2 gene that cause Axenfeld-Rieger syndrome type 1. This isn’t just another genetic test – it’s a precise diagnostic tool that examines your DNA at the molecular level, providing accurate information about this inherited condition that affects eye development and can lead to glaucoma.
Who Should Consider This Genetic Test?
This test is particularly important if you or your family members experience:
- Family history of Axenfeld-Rieger syndrome or childhood glaucoma
- Abnormalities in the front part of the eye (anterior segment dysgenesis)
- Dental abnormalities or extra teeth
- Facial features associated with the syndrome
- Umbilical abnormalities
- Early-onset vision problems in multiple family members
If you’re planning a family and have concerns about genetic inheritance, this test provides crucial information for informed family planning decisions.
Why Early Detection Matters for Your Family’s Vision
Getting tested for the PITX2 gene mutation offers life-changing benefits:
- Prevent Vision Loss: Early detection allows for proactive monitoring and treatment to prevent glaucoma-related vision loss
- Family Planning Confidence: Understand inheritance patterns to make informed decisions about starting a family
- Personalised Care: Receive tailored medical management based on your specific genetic profile
- Peace of Mind: Eliminate uncertainty and anxiety about genetic risks
- Comprehensive Understanding: Our genetic counselling session helps map your family’s health history
Understanding Your Test Results with Compassion
We know waiting for genetic results can be stressful. That’s why we provide clear, compassionate explanations of your findings:
- Positive Result: If a PITX2 mutation is detected, our genetic counsellors will explain what this means for your health and connect you with appropriate specialists for ongoing care
- Negative Result: If no mutation is found, you’ll receive reassurance and guidance about other potential causes of symptoms
- Uncertain Variants: For any unclear findings, we provide thorough explanations and recommendations for additional testing if needed
Your results come with dedicated support to ensure you fully understand the implications for your health and family.
Transparent Pricing – Exceptional Value for Your Health
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PITX2 Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Includes genetic counselling session and comprehensive results analysis | |||
Test Details:
- Turnaround Time: 3-4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Method: Advanced NGS Technology
- Specialty: Pediatric Genetics
Why South African Families Trust Oracle Genomics
We understand that genetic testing requires absolute confidence in your provider. That’s why we’ve built our reputation on:
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Specialist pediatric genetic testing with clinical accuracy
- Patient-Centred Care: Empathetic support throughout your testing journey
- Advanced Technology: State-of-the-art NGS methodology for reliable results
- Genetic Counselling: Comprehensive family history assessment and result interpretation
Take Control of Your Family’s Eye Health Today
Don’t let uncertainty about genetic risks cloud your family’s future. Early detection through PITX2 gene testing can prevent vision loss and provide the clarity you need for informed health decisions.
Limited Time Special: Save ZAR 2,650 on this essential genetic test – book now while this special pricing is available!
Convenient Nationwide Access: Testing available throughout South Africa with results delivered within 3-4 weeks.

