Understanding Joubert Syndrome Type 21: Your Path to Genetic Clarity
When neurological conditions run in families, the uncertainty can be overwhelming. If you’re concerned about Joubert Syndrome Type 21 affecting your loved ones, our CSPP1 gene test provides the clarity and answers you deserve. At Oracle Genomics, we understand the emotional weight of genetic testing and provide compassionate, professional care throughout your journey.
What Does the CSPP1 Gene Test Detect?
The CSPP1 gene plays a crucial role in brain development and function. Mutations in this gene can lead to Joubert Syndrome Type 21, a rare neurological disorder that affects coordination, breathing patterns, and eye movements. Our advanced Next-Generation Sequencing (NGS) technology examines your CSPP1 gene with exceptional accuracy, identifying even the smallest genetic variations that could impact your family’s health.
This isn’t just a test – it’s a comprehensive genetic assessment that includes professional genetic counselling to help you understand your results in the context of your family history.
Who Should Consider This Genetic Test?
This test is particularly important if you or your family members experience:
- Unexplained developmental delays in infants or children
- Abnormal eye movements or vision problems
- Breathing pattern abnormalities, especially during sleep
- Poor muscle coordination or balance issues
- Family history of neurological conditions
- Previous pregnancy losses with suspected genetic causes
If you’re planning a family and have concerns about genetic inheritance, this test can provide valuable insights for your future children’s health.
Why Early Detection Matters for Your Family’s Health
Getting tested for CSPP1 gene mutations offers significant benefits:
- Early Intervention: Identify conditions early when management strategies are most effective
- Family Planning: Make informed decisions about starting or expanding your family
- Peace of Mind: Reduce uncertainty and anxiety about genetic risks
- Personalised Care: Work with healthcare providers to create targeted treatment plans
- Genetic Counselling: Understand inheritance patterns and family risk assessment
Understanding Your Test Results
We know waiting for genetic test results can be stressful. Our process is designed to provide clarity and support:
- Clear Reporting: Results are presented in easy-to-understand language
- Professional Interpretation: Our genetic specialists explain what your results mean for you and your family
- Follow-up Support: We provide guidance on next steps and connect you with appropriate specialists
- Family Pedigree Analysis: Your genetic counselling session includes creating a detailed family history chart
Whether your results are positive or negative, you’ll leave with a clear understanding of your genetic profile and what it means for your health journey.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| CSPP1 Gene Joubert Syndrome Type 21 Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Includes genetic counselling session and family pedigree analysis | |||
Test Details:
- Turnaround Time: 3-4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Preparation: Clinical history and genetic counselling session required
- Method: Advanced NGS Technology
Why Trust Oracle Genomics?
We’re committed to providing South Africans with accessible, reliable genetic testing:
- Nationwide Coverage: Available in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Specialised neurological genetic testing interpreted by experts
- Accuracy Guarantee: Advanced NGS technology ensures precise results
- Patient-Centred Care: We prioritise your comfort and understanding throughout the process
- Genetic Counselling: Professional guidance to help you make informed decisions
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions hold you back. Early detection through our CSPP1 gene test can provide the answers you need to make informed healthcare decisions for yourself and your family.
Book your test today and receive:
- Comprehensive CSPP1 gene analysis
- Professional genetic counselling session
- Family pedigree chart creation
- Clear, understandable results in 3-4 weeks
- Ongoing support and guidance
Contact Oracle Genomics now to schedule your appointment at one of our conveniently located centres across South Africa. Your journey to genetic clarity starts here.
