Understanding Joubert Syndrome: Your Path to Genetic Clarity
When neurological concerns affect your family, the uncertainty can be overwhelming. Our INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test provides the answers you need with compassion and medical precision. For South African families facing developmental delays or neurological symptoms, this test offers definitive genetic insights that can transform healthcare decisions and bring peace of mind.
What This Test Detects
The INPP5E gene plays a crucial role in brain development and function. Mutations in this gene are directly linked to Joubert Syndrome Type 1, a rare neurological disorder characterised by abnormal brain development. Our advanced Next Generation Sequencing (NGS) technology examines your DNA with exceptional accuracy, identifying specific genetic variations that could impact your family’s health journey.
This isn’t just a test – it’s a comprehensive genetic analysis that provides clarity about inherited conditions, helping you understand risks and make informed decisions about future healthcare needs.
Who Should Consider This Genetic Test?
This test is particularly important for individuals and families experiencing:
- Unexplained developmental delays in infants or children
- Abnormal eye movements or vision problems
- Breathing pattern abnormalities
- Coordination and balance difficulties
- Family history of neurological disorders
- Previous pregnancy with developmental concerns
- Planning for future family and wanting genetic clarity
If you’re in Johannesburg, Cape Town, Durban, or anywhere in South Africa and have concerns about neurological development in your family, this test provides the answers you deserve.
Why Early Detection Matters for Your Family’s Health
Genetic knowledge is power when it comes to neurological conditions. By identifying INPP5E gene mutations early, you gain:
- Early Intervention Opportunities: Access specialised care and support services sooner
- Family Planning Confidence: Make informed decisions about future pregnancies
- Reduced Diagnostic Uncertainty: End the cycle of unanswered questions and multiple doctor visits
- Personalised Healthcare: Develop targeted treatment and management plans
- Emotional Peace: Replace anxiety with understanding and proactive planning
Many South African families have found that genetic testing provided the clarity needed to move forward with confidence in their healthcare journey.
Understanding Your Results with Compassion
We understand that genetic testing can feel overwhelming. That’s why every test includes professional genetic counselling to help you understand your results clearly and compassionately. Our specialists will:
- Explain your genetic findings in simple, understandable terms
- Discuss what the results mean for your family’s health
- Provide guidance on next steps and available resources
- Address your questions and concerns with empathy
- Connect you with appropriate healthcare professionals if needed
Your results will be available within 3-4 weeks, and we’ll support you every step of the way.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| INPP5E Gene Joubert Syndrome Type 1 NGS Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
Your investment includes: Comprehensive genetic analysis, professional genetic counselling session, detailed results report, and ongoing support. Compared to the cost of multiple specialist visits and ongoing diagnostic uncertainty, this test represents exceptional value for South African families.
Why South Africans Trust Oracle Genomics
- Nationwide Coverage: Accessible testing centres across South Africa, including Johannesburg, Cape Town, Durban, and Pretoria
- Medical Expertise: Specialised neurological genetic testing supervised by qualified professionals
- Advanced Technology: State-of-the-art NGS technology ensuring 99.9% accuracy
- Patient-First Approach: Empathetic care designed to reduce anxiety and build confidence
- Proven Track Record: Trusted by healthcare professionals and families nationwide
Take the First Step Toward Genetic Clarity Today
Don’t let uncertainty about neurological conditions create unnecessary stress for your family. Our INPP5E Gene Joubert Syndrome Type 1 test provides the answers you need with the compassion you deserve.
Limited Time Special: Save ZAR 2,650 on your genetic testing. Early detection can make a significant difference in managing neurological conditions effectively. Book your test today and take control of your family’s genetic health journey.
Sample Collection: Simple blood draw or extracted DNA sample. Genetic counselling session included to create your family pedigree and discuss testing implications.
Ready for answers? Contact Oracle Genomics today and begin your journey to genetic clarity with confidence and care.

