Find Clarity for Central Hypoventilation and Hirschsprung Disease Concerns
When breathing difficulties and digestive issues affect your family, the uncertainty can be overwhelming. Our PHOX2B gene test provides the definitive answers South African families need to move forward with confidence and proper medical care.
Understanding Your PHOX2B Genetic Test
The PHOX2B gene plays a crucial role in the development of your nervous system, particularly controlling automatic functions like breathing and digestion. When mutations occur in this gene, it can lead to central hypoventilation syndrome (CCHS) – where your brain doesn’t properly control breathing – and sometimes Hirschsprung disease, affecting bowel function.
Our advanced Next Generation Sequencing (NGS) technology examines your PHOX2B gene with exceptional accuracy, identifying even the smallest genetic variations that could impact your health.
Who Should Consider This Genetic Test?
This test is particularly important if you or your child experience:
- Unexplained breathing difficulties, especially during sleep
- Episodes of shallow breathing or breath-holding
- Chronic constipation from birth or early childhood
- Family history of central hypoventilation or Hirschsprung disease
- Unexplained blueish skin colour (cyanosis) in infants
- Difficulty with bowel movements requiring medical intervention
Early detection through genetic testing can significantly improve management and quality of life.
Why Early Detection Matters for Your Health
Getting tested provides life-changing benefits:
- Peace of Mind: Eliminate uncertainty about your genetic status
- Proper Management: Enable targeted medical care and monitoring
- Family Planning: Understand inheritance risks for future children
- Early Intervention: Prevent complications through timely treatment
- Reduced Anxiety: Replace fear with knowledge and control
Understanding Your Test Results
We make understanding your results straightforward and reassuring:
- Clear Reporting: Easy-to-understand results with medical guidance
- Genetic Counselling: Professional interpretation of what your results mean
- Family Implications: Guidance on what this means for relatives
- Next Steps: Clear recommendations for medical follow-up
- Ongoing Support: Access to our genetic specialists for questions
Remember: A positive result means we can create the right care plan, while a negative result provides valuable reassurance.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PHOX2B Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling Session | INCLUDED | ||
| Family Pedigree Analysis | INCLUDED | ||
Turnaround time: 3-4 weeks | Sample: Blood, Extracted DNA, or Blood on FTA Card
Why South Africans Trust Oracle Genomics
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and nationwide
- Medical Expertise: Specialised cardiology and genetic testing experience
- Advanced Technology: Latest NGS technology for maximum accuracy
- Patient-Centred Care: Empathetic support throughout your testing journey
- Proven Reliability: Trusted by healthcare professionals across South Africa
Take Control of Your Health Journey Today
Don’t let uncertainty about central hypoventilation or Hirschsprung disease control your life. With our special pricing of ZAR 6,700 and comprehensive genetic counselling included, there’s never been a better time to get the answers you need.
Limited Time Offer: Special pricing of ZAR 6,700 available for immediate bookings. Regular price ZAR 9,350.
Convenient Nationwide Access: Testing available throughout South Africa with results delivered securely to you and your healthcare provider.
