Understanding TSEN54 Pontocerebellar Hypoplasia Type 5: Your Path to Answers
When you’re worried about your child’s neurological development, every day brings new questions and concerns. The TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test provides the clarity South African families need to make informed healthcare decisions. We understand the emotional journey you’re on, and we’re here to walk alongside you with professional expertise and compassionate care.
What This Test Reveals About Neurological Health
Pontocerebellar hypoplasia type 5 (PCH5) is a rare genetic condition affecting brain development, specifically targeting the cerebellum and brainstem. Our advanced NGS (Next Generation Sequencing) technology examines the TSEN54 gene for mutations that could impact your child’s neurological function. This isn’t just a test – it’s a comprehensive assessment that provides definitive answers about genetic factors influencing brain development.
Who Should Consider This Genetic Test?
This test is particularly important for families experiencing:
- Delayed motor development milestones in infants and children
- Progressive microcephaly (small head size)
- Muscle weakness or poor muscle tone
- Feeding difficulties and swallowing problems
- Abnormal eye movements or vision concerns
- Family history of neurological conditions
- Unexplained developmental regression
If you’ve noticed any of these signs in your child, or if there’s a family history of neurological disorders, this test can provide the answers you need to plan appropriate care and interventions.
Why Early Detection Matters for Your Family’s Health
Getting answers through genetic testing provides multiple life-changing benefits:
- Peace of Mind: Reduce uncertainty and anxiety about your child’s condition
- Early Intervention: Access appropriate therapies and treatments sooner
- Family Planning: Make informed decisions about future pregnancies
- Personalised Care: Develop targeted healthcare strategies based on genetic findings
- Medical Guidance: Work with neurologists and specialists who understand your child’s specific needs
Understanding Your Test Results with Confidence
We know waiting for genetic test results can be stressful. That’s why we provide:
- Clear Explanations: Easy-to-understand reports with professional interpretation
- Genetic Counselling: Pre- and post-test sessions to help you understand the implications
- Family Support: Guidance on what results mean for your entire family
- Next Steps: Clear recommendations for follow-up care and specialist referrals
- Ongoing Support: Access to our team for any questions after receiving results
Your results will be available within 3-4 weeks, and we’ll guide you through every step of understanding what they mean for your family’s health journey.
Affordable Genetic Testing for South African Families
| Service | Regular Price | Special Price | Turnaround Time |
|---|---|---|---|
| TSEN54 PCH5 NGS Genetic Test | ZAR 6,700 | 3-4 Weeks |
Sample Collection: Blood, Extracted DNA, or One Drop Blood on FTA Card
Preparation Required: Clinical history and genetic counselling session to create family pedigree chart
Considering the lifelong impact of neurological conditions, this investment in your child’s health provides invaluable information that can guide years of medical care and support.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing across Johannesburg, Cape Town, Durban, Pretoria and throughout South Africa
- Medical Expertise: Specialised neurological genetic testing interpreted by qualified professionals
- Advanced Technology: State-of-the-art NGS methodology for maximum accuracy
- Comprehensive Support: Genetic counselling included to ensure you understand your results
- Proven Reliability: Trusted by healthcare providers and families nationwide
- Patient-First Approach: We prioritise your emotional wellbeing throughout the testing process
Take the First Step Toward Understanding Your Child’s Neurological Health
Don’t let uncertainty about neurological development create unnecessary stress for your family. The answers you need are within reach, and early detection can make a significant difference in your child’s quality of life.
Limited Time Offer: Special pricing of ZAR 6,700 available for a limited period. Regular price ZAR 9,350. Don’t delay getting the answers your family deserves.
Nationwide Access Across South Africa
We make advanced genetic testing accessible to families throughout South Africa with collection centres in:
- Gauteng: Johannesburg, Pretoria, Centurion
- Western Cape: Cape Town, Stellenbosch, Paarl
- KwaZulu-Natal: Durban, Pietermaritzburg, Ballito
- Eastern Cape: Port Elizabeth, East London
- Free State: Bloemfontein
- And many more locations nationwide
Wherever you are in South Africa, we’re here to support your family’s neurological health journey with professional, compassionate care.
