Find Answers for Your Child’s Breathing and Digestive Health Concerns
When your child experiences unexplained breathing difficulties or digestive problems, the uncertainty can be overwhelming. Our PHOX2B Gene Test provides the clarity you need to understand and address central hypoventilation syndrome and Hirschsprung disease – two conditions that often occur together and require specialised genetic diagnosis.
Understanding the PHOX2B Genetic Test
This advanced genetic test examines the PHOX2B gene, which plays a crucial role in the development of the autonomic nervous system – the system that controls automatic body functions like breathing and digestion. Using Next-Generation Sequencing (NGS) technology, we can identify mutations that may cause:
- Central hypoventilation syndrome (breathing control issues)
- Hirschsprung disease (digestive tract development problems)
- Combined conditions affecting both systems
Our testing process is designed to be comprehensive yet straightforward, requiring only a simple blood sample or DNA extraction.
Who Should Consider This Genetic Test?
This test is particularly important for children and families experiencing:
- Breathing concerns: Unexplained pauses in breathing during sleep, difficulty breathing while awake, or requiring breathing support
- Digestive issues: Chronic constipation from birth, difficulty passing stool, or abdominal swelling
- Family history: Known cases of central hypoventilation syndrome or Hirschsprung disease in the family
- Unexplained symptoms: When standard medical tests haven’t provided clear answers
Early detection through genetic testing can significantly improve treatment outcomes and quality of life.
Why Early Genetic Testing Matters for Your Child’s Health
Getting the right diagnosis early can transform your child’s health journey by:
- Enabling targeted treatment: Knowing the specific genetic cause allows for personalised medical management
- Preventing complications: Early intervention can reduce the risk of serious health issues
- Providing family clarity: Understanding genetic risks helps with family planning and screening other children
- Reducing uncertainty: Ending the diagnostic odyssey and providing clear answers
- Improving quality of life: Proper management leads to better developmental outcomes
Understanding Your Test Results
We understand that waiting for genetic test results can be stressful. Our process is designed to provide clarity and support:
- Clear reporting: Results are presented in easy-to-understand language with medical interpretation
- Genetic counselling: Included with your test to help understand results and implications
- Family guidance: We help create a pedigree chart to understand family patterns
- Next steps: Clear recommendations for management and specialist referrals if needed
- Ongoing support: Access to our team for questions about your results
Remember: A positive result provides answers and direction, while a negative result offers peace of mind.
Affordable Genetic Testing for South African Families
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PHOX2B Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling | Included at no extra cost | ||
| Family Pedigree Analysis | Included at no extra cost | ||
Your investment in genetic testing today can prevent years of uncertainty and potentially save thousands in unnecessary medical costs.
Why Trust Oracle Genomics for Your Genetic Testing?
- Nationwide Coverage: Available throughout South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Advanced Technology: State-of-the-art NGS testing for maximum accuracy
- Paediatric Specialists: Expertise in childhood genetic conditions
- Comprehensive Support: Genetic counselling and family guidance included
- Proven Accuracy: Reliable results you can trust for important health decisions
- Timely Results: 3-4 week turnaround with clear communication throughout
Take the First Step Toward Answers Today
Don’t let uncertainty about your child’s health continue. Early genetic testing provides the clarity needed for proper management and peace of mind.
Limited Time Offer: Save ZAR 2,650 on this essential genetic test
Convenient Testing: Simple blood sample collection available nationwide
Comprehensive Care: Genetic counselling and family analysis included
Your child’s health deserves answers. Contact Oracle Genomics today and take control of their genetic health journey.

