Understanding Joubert Syndrome Type 20: Your Path to Clarity and Peace of Mind
When your child shows signs of developmental challenges or unusual neurological symptoms, the uncertainty can be overwhelming. Joubert Syndrome Type 20 is a rare genetic condition that affects brain development, and understanding your family’s genetic risk can provide the clarity you need to make informed healthcare decisions. Our TMEM231 Gene test offers the definitive answers you’ve been searching for.
What Does This Test Detect?
This advanced genetic test specifically analyses the TMEM231 gene using Next-Generation Sequencing (NGS) technology. The TMEM231 gene plays a crucial role in brain development, and mutations in this gene are directly linked to Joubert Syndrome Type 20. Our test identifies these genetic variations with exceptional accuracy, providing you with clear, reliable results that can guide your family’s healthcare journey.
Who Should Consider This Test?
This test is particularly important if your child or family member experiences:
- Developmental delays in motor skills or speech
- Abnormal eye movements or vision problems
- Breathing pattern irregularities
- Poor muscle coordination or balance issues
- Family history of neurological conditions
- Unexplained intellectual disability
Early detection through genetic testing can significantly improve outcomes by enabling timely interventions and specialised care.
Why This Matters for Your Family’s Health
Understanding your genetic status provides more than just answers – it offers empowerment. With clear test results, you can:
- Make informed decisions about treatment and care plans
- Access appropriate early intervention services
- Understand recurrence risks for future pregnancies
- Connect with specialised healthcare providers
- Reduce uncertainty and anxiety about your child’s health
Understanding Your Results with Compassion
We know that waiting for genetic test results can be stressful. That’s why we provide comprehensive support throughout the process. Your results will be clearly explained by our genetic counselling team, who will help you understand what they mean for your family’s health. Whether the results are positive or negative, you’ll receive personalised guidance and next-step recommendations.
Transparent Pricing and Exceptional Value
| Service | Regular Price | Special Price |
|---|---|---|
| TMEM231 Gene Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling Session | Included | |
| Family Pedigree Analysis | Included | |
| Results Interpretation | Included | |
This comprehensive package represents exceptional value, providing not just testing but complete genetic healthcare support.
Nationwide Accessibility Across South Africa
We’re proud to serve families across South Africa with convenient testing locations in Johannesburg, Cape Town, Durban, Pretoria, and nationwide. Our sample collection is simple and minimally invasive – requiring only blood or a small blood spot on an FTA card. With a turnaround time of 3-4 weeks, you won’t have to wait long for the answers that could transform your family’s healthcare journey.
Take the Next Step Towards Clarity
Don’t let uncertainty about genetic conditions cloud your family’s future. Early detection through genetic testing provides the knowledge you need to access the right care and support. Our team of neurological genetics specialists and genetic counsellors are here to guide you every step of the way.
Book your TMEM231 Gene test today and take control of your family’s genetic health. Contact us now to schedule your genetic counselling session and testing appointment. Your journey to clarity and peace of mind starts with one simple decision.
