Find Clarity About Joubert Syndrome in Your Family
When neurological conditions run in families, the uncertainty can be overwhelming. Our CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test provides the answers you need to make informed decisions about your family’s health journey. Using cutting-edge Next Generation Sequencing technology, we offer precise detection of CPLANE1 gene mutations with the compassion and expertise South African families deserve.
Understanding the CPLANE1 Gene Joubert Syndrome Test
Joubert Syndrome Type 17 is a rare neurological disorder that affects brain development, particularly the cerebellum and brainstem. The CPLANE1 gene plays a crucial role in proper brain formation, and mutations in this gene can lead to the characteristic symptoms of Joubert Syndrome. Our advanced NGS (Next Generation Sequencing) technology examines your DNA with unprecedented accuracy, identifying even the smallest genetic variations that could impact your family’s neurological health.
Who Should Consider This Genetic Test?
This test is particularly important for families experiencing:
- Infants or children with abnormal eye movements or breathing patterns
- Developmental delays in motor skills and coordination
- Family history of neurological disorders or brain malformations
- Unusual muscle tone or movement difficulties
- Speech and language development concerns
- Previous pregnancies with brain development abnormalities
If you’re planning a family and have concerns about genetic inheritance, this test can provide valuable insights for your future.
Why Early Detection Matters for Your Family’s Health
Getting answers about Joubert Syndrome can transform your family’s healthcare journey:
- Peace of Mind: Eliminate uncertainty and reduce the stress of not knowing
- Early Intervention: Access appropriate therapies and support services sooner
- Family Planning: Make informed decisions about future pregnancies
- Personalised Care: Develop targeted treatment plans based on genetic findings
- Reduced Healthcare Costs: Prevent unnecessary tests and treatments through accurate diagnosis
Understanding Your Test Results
We know waiting for genetic test results can be anxiety-provoking. That’s why we provide:
- Clear Explanations: Your results will be explained in simple, understandable language
- Genetic Counselling: Professional guidance to help you understand what the results mean for your family
- Next Steps: Practical recommendations for follow-up care and management
- Ongoing Support: Access to resources and specialists who understand Joubert Syndrome
Remember: A positive result doesn’t define your child’s potential – it provides the roadmap for the best possible support and care.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| CPLANE1 Gene Joubert Syndrome Type 17 NGS Test | ZAR 6,700 | ZAR 2,650 |
What’s Included: Comprehensive genetic analysis, genetic counselling session, detailed results report, and professional interpretation.
Turnaround Time: 3-4 weeks
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Specialised neurologists and genetic counsellors overseeing every test
- Advanced Technology: State-of-the-art NGS technology for unparalleled accuracy
- Patient-Centred Care: Compassionate support throughout your testing journey
- Proven Reliability: Trusted by healthcare professionals across South Africa
Take the First Step Toward Clarity Today
Don’t let uncertainty about Joubert Syndrome control your family’s future. With our special pricing of ZAR 6,700, now is the perfect time to get the answers you deserve.
Limited Time Offer: This special pricing of ZAR 6,700 (regularly ZAR 9,350) won’t last forever. Secure your family’s peace of mind while you can save ZAR 2,650.
“The clarity we gained from this test helped us provide the right support for our daughter from the very beginning. The genetic counselling made all the difference.” – Johannesburg Family
