Understanding Your Child’s Breathing Challenges: EDN3 Gene Testing for South African Families
When your newborn or child experiences unexplained breathing difficulties, the uncertainty can be overwhelming. As parents in South Africa, you deserve clear answers and expert guidance. The EDN3 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test provides the definitive diagnosis you need to understand and manage your child’s breathing challenges with confidence.
What This Test Reveals About Your Child’s Health
This advanced genetic test specifically examines the EDN3 gene, which plays a crucial role in regulating breathing patterns during sleep. When mutations occur in this gene, it can lead to congenital central hypoventilation syndrome (CCHS) – a serious condition where the brain doesn’t properly control breathing, especially during sleep.
Using cutting-edge Next Generation Sequencing (NGS) technology, our test provides the most accurate analysis available, giving you reliable results you can trust for your child’s healthcare decisions.
Is This Test Right for Your Child?
This test is essential for South African families when their child shows:
- Unexplained breathing pauses during sleep
- Bluish skin colour (cyanosis) during sleep
- Difficulty breathing that improves when awake
- Family history of breathing disorders
- Unexplained breathing emergencies in infancy
- Concerns about sudden infant death syndrome (SIDS) risk
Early detection through genetic testing can be life-saving for children with CCHS, allowing for proper monitoring and intervention.
Why Early Detection Matters for Your Child’s Future
Getting a definitive diagnosis through EDN3 gene testing provides:
- Peace of Mind: End the uncertainty about your child’s breathing challenges
- Proper Management: Develop targeted care plans with your paediatrician
- Family Planning: Understand inheritance patterns for future children
- Emergency Preparedness: Equip caregivers with life-saving information
- School Support: Ensure proper accommodations for your child’s needs
Understanding Your Results with Compassion
Our genetic counsellors provide clear, compassionate explanations of your results:
- Positive Result: Confirms CCHS diagnosis, allowing for immediate intervention and management planning
- Negative Result: Rules out EDN3-related CCHS, helping focus on other potential causes
- Variant of Uncertain Significance: Rare findings that require ongoing monitoring and research
Every result includes detailed guidance from our expert genetic team, ensuring you have the support needed for next steps.
Affordable Genetic Testing for South African Families
| Test Option | Regular Price | Special Price | Savings |
|---|---|---|---|
| EDN3 Gene CCHS Test | ZAR 6,700 | ZAR 2,650 |
Turnaround Time: 3-4 weeks
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
This investment in your child’s health provides lifelong benefits and potentially prevents serious health complications.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Available in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Expert Genetic Counselling: Comprehensive family history assessment and pedigree analysis
- Advanced NGS Technology: Most accurate genetic testing available
- Pediatric Specialization: Expertise in children’s genetic conditions
- South African Focus: Understanding local healthcare needs and concerns
Take the First Step Toward Understanding Your Child’s Health
Don’t let uncertainty about your child’s breathing challenges continue. Early detection through EDN3 gene testing can provide the answers you need for proper management and peace of mind.
Book your genetic counselling session today and take control of your child’s health journey.
Our compassionate team is ready to support your family through this important health decision. Contact us now to schedule your appointment and begin the journey to clarity.

