Understanding Your Child’s Breathing Concerns: GFRA1 Gene Testing for Congenital Central Hypoventilation Syndrome
As a parent, watching your infant struggle with breathing can be terrifying. When your baby experiences unexplained breathing pauses, especially during sleep, it’s natural to feel anxious and seek answers. Our GFRA1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test provides the clarity South African families need to understand these concerning symptoms and take proactive steps for their child’s health.
What This Test Reveals About Your Child’s Health
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder that affects the automatic control of breathing. The GFRA1 gene plays a crucial role in the development of nerve cells that regulate breathing, particularly during sleep. When mutations occur in this gene, the brain’s ability to automatically control breathing becomes compromised, leading to potentially life-threatening breathing pauses.
Our advanced NGS (Next Generation Sequencing) technology examines the GFRA1 gene with exceptional precision, identifying even the smallest genetic variations that could indicate CCHS. This isn’t just another test – it’s a comprehensive genetic investigation that provides definitive answers about your child’s respiratory health.
Is This Test Right for Your Child?
This genetic screening is particularly important if your infant or child shows:
- Unexplained breathing pauses, especially during sleep
- Bluish skin colour (cyanosis) during sleep
- Difficulty breathing that improves when awake
- Family history of sudden infant death syndrome (SIDS)
- Previous siblings with breathing disorders
- Unexplained episodes of low oxygen levels
If you’ve noticed these symptoms or have concerns about your child’s breathing patterns, this test can provide the answers you need for proper management and treatment.
Why Early Detection Matters for Your Child’s Future
Identifying congenital central hypoventilation syndrome early can be life-saving. With accurate GFRA1 gene testing, you can:
- Receive definitive diagnosis for proper treatment planning
- Implement appropriate monitoring and ventilation support
- Reduce anxiety through clear understanding of the condition
- Access specialised care and support services
- Make informed decisions about your child’s healthcare needs
- Provide peace of mind through genetic counselling and family planning guidance
Early detection means early intervention, which significantly improves quality of life and reduces health risks for affected children.
Understanding Your Test Results: Clear Guidance Every Step
We understand that waiting for genetic test results can be stressful. That’s why we provide comprehensive support throughout the process:
- Genetic Counselling Session: Before testing, you’ll meet with our genetic counsellor to discuss family history and create a pedigree chart
- Clear Result Interpretation: Your results will be explained in simple, understandable terms
- Personalised Guidance: We provide specific recommendations based on your child’s genetic profile
- Ongoing Support: Access to resources and specialist referrals if needed
Whether the results confirm CCHS or rule it out, you’ll have the information and support needed to make the best decisions for your child’s health.
Transparent Pricing – Investing in Your Child’s Health
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| GFRA1 Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling | Included at no extra cost | ||
| Result Interpretation | Included with comprehensive support | ||
Turnaround Time: 3-4 weeks
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing across South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Advanced Technology: State-of-the-art NGS genetic testing for maximum accuracy
- Expert Team: Qualified genetic counsellors and medical professionals
- Proven Accuracy: Reliable results you can trust for critical health decisions
- Compassionate Care: Understanding support for families facing genetic health concerns
Take the First Step Toward Answers Today
Don’t let uncertainty about your child’s breathing keep you awake at night. Our GFRA1 gene testing provides the clarity and peace of mind your family deserves.
Book Your Test Now: Call 0861 123 456 or visit our website to schedule your genetic counselling session and testing.
Limited Time Offer: Secure your special pricing of ZAR 6,700 before this offer ends. Early detection could make all the difference for your child’s health and future.
Available at our centres in Johannesburg, Cape Town, Durban, Pretoria and nationwide through our partner network.

