Find Clarity for Your Child’s Neurological Health
When you notice developmental delays or neurological symptoms in your child, the uncertainty can be overwhelming. Our EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test provides the answers South African families need to make informed healthcare decisions. Using cutting-edge Next Generation Sequencing technology, we deliver accurate, reliable results that can guide treatment and care planning.
Understanding the EXOSC3 Gene Test
Pontocerebellar Hypoplasia Type 1B is a rare neurological disorder that affects brain development, particularly in the cerebellum and brainstem. Our test specifically examines the EXOSC3 gene for mutations that cause this condition. Unlike basic genetic tests, our NGS technology provides comprehensive analysis of the entire gene sequence, ensuring no potential mutations are missed.
The test is performed using a simple blood sample or extracted DNA, making it accessible for patients of all ages across South Africa. Our laboratory processes are validated to international standards, giving you confidence in every result.
Who Should Consider This Test?
This test is particularly important for families who have noticed:
- Delayed motor development in infants and young children
- Muscle weakness or poor muscle tone (hypotonia)
- Feeding difficulties and breathing problems
- Abnormal eye movements or vision issues
- Family history of similar neurological conditions
- Unexplained developmental regression
If your child is showing any of these symptoms, or if there’s a family history of neurological disorders, early testing can provide crucial information for their care team.
Why Early Detection Matters for Your Family
Getting a definitive diagnosis through genetic testing offers multiple benefits:
- Accurate Diagnosis: Eliminate uncertainty and get clear answers about your child’s condition
- Personalised Care Planning: Work with healthcare providers to develop targeted treatment strategies
- Family Planning Guidance: Understand inheritance patterns for future family planning decisions
- Early Intervention: Access appropriate therapies and support services sooner
- Peace of Mind: Reduce the stress of not knowing and focus on providing the best care
Understanding Your Test Results
We understand that waiting for genetic test results can be anxiety-provoking. That’s why we provide comprehensive support throughout the process:
- Clear Result Interpretation: Our reports are written in easy-to-understand language with clear explanations
- Genetic Counselling: Every test includes a session with our qualified genetic counsellors
- Family Pedigree Analysis: We help map your family history to understand inheritance patterns
- Healthcare Provider Coordination: We work directly with your neurologist or paediatrician
Our turnaround time of 3-4 weeks ensures you get answers as quickly as possible without compromising accuracy.
Transparent Pricing – No Hidden Costs
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| EXOSC3 Gene PCH1B NGS Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling Session | Included at no extra cost | ||
| Family Pedigree Analysis | Included at no extra cost | ||
| Result Interpretation | Included at no extra cost | ||
All prices include VAT and there are no hidden laboratory fees. Payment plans available upon request.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Serving patients in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Tests supervised by qualified neurologists and genetic specialists
- Technology Leadership: Latest NGS technology ensuring 99.9% accuracy rates
- Patient-Centred Care: Empathetic support throughout your testing journey
- International Standards: Laboratory accredited to global quality standards
Take the First Step Toward Answers Today
Don’t let uncertainty about your child’s neurological health continue. Our EXOSC3 Gene test provides the clarity you need to make the best decisions for your family’s future.
Limited Time Offer: Save ZAR 2,650 on your genetic testing. Early detection can make a significant difference in management outcomes. Book your test today and take control of your family’s neurological health journey.
Ready to Get Started? Contact our genetic counselling team today at [Phone Number] or visit our website to schedule your consultation. We’re here to support you every step of the way.

