Find Clarity for Neurological Development Concerns
When you’re worried about your child’s neurological development or have a family history of brain development disorders, the uncertainty can be overwhelming. Our TSEN54 Gene Pontocerebellar Hypoplasia Type 2A test provides the definitive answers you need to make informed decisions about your family’s health journey.
Understanding Your TSEN54 Genetic Test
This specialised test examines the TSEN54 gene using advanced Next Generation Sequencing (NGS) technology. The TSEN54 gene plays a critical role in brain development, particularly in the cerebellum and pons regions. When mutations occur in this gene, it can lead to Pontocerebellar Hypoplasia Type 2A – a rare neurological condition affecting brain development from infancy.
Our test provides comprehensive analysis of this specific gene, giving you and your healthcare provider clear, actionable information about potential genetic risks.
Who Should Consider This Genetic Test?
This test is particularly important if you or your child experience:
- Delayed motor development or difficulty with coordination
- Progressive microcephaly (small head size)
- Muscle weakness or movement disorders
- Family history of neurological development conditions
- Unexplained developmental delays in infancy or childhood
- Previous children with similar neurological symptoms
If you’re planning a family and have concerns about genetic risks, this test can provide valuable insights for future family planning decisions.
Why Early Detection Matters for Your Family’s Health
Getting tested provides more than just answers – it offers peace of mind and the opportunity for early intervention. Benefits include:
- Early Intervention Planning: Knowing the genetic basis allows for targeted therapies and support services
- Family Planning Guidance: Understand recurrence risks for future pregnancies
- Reduced Diagnostic Uncertainty: End the cycle of multiple tests and specialist visits
- Personalised Care Strategies: Work with neurologists to develop individualised treatment plans
- Emotional Relief: Replace uncertainty with clear understanding and actionable information
Understanding Your Test Results
We understand that waiting for genetic test results can be anxiety-provoking. That’s why we provide:
- Comprehensive Genetic Counselling: Before testing, you’ll meet with our genetic counsellor to create a family pedigree and discuss what to expect
- Clear Result Interpretation: Your results will be explained in understandable language
- Professional Support: We’ll connect you with appropriate specialists based on your results
- Ongoing Guidance: Our team remains available to answer questions about your results
Results are typically available within 3-4 weeks, and we’ll guide you through every step of understanding what they mean for your family.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| TSEN54 Gene PCH2A NGS Test | ZAR 6,700 | ZAR 2,650 | |
| Includes genetic counselling session and comprehensive result interpretation | |||
Consider this investment in your family’s health: early detection can save thousands in unnecessary medical tests and provide direction for appropriate care.
Why Trust Oracle Genomics?
- Nationwide Coverage: Convenient testing locations in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Specialised neurological genetic testing interpreted by experienced professionals
- Advanced Technology: State-of-the-art NGS technology for maximum accuracy
- Comprehensive Support: Genetic counselling included with every test
- Confidential Service: Your privacy and data security are our top priorities
- Multiple Sample Options: Blood, extracted DNA, or simple blood spot on FTA card
Take the First Step Toward Clarity Today
Don’t let uncertainty about neurological development concerns continue to weigh on your mind. Our TSEN54 genetic test provides the answers you need to move forward with confidence.
Limited Time Special: Book now to secure your test at the special price of ZAR 6,700 – saving you ZAR 2,650 off the regular price. This offer includes your comprehensive genetic counselling session and detailed result interpretation.
Take control of your family’s neurological health today. Contact Oracle Genomics to schedule your TSEN54 Gene Pontocerebellar Hypoplasia Type 2A test and start your journey toward clarity and peace of mind.

