Understanding Your Baby’s Breathing: ASCL1 Gene Testing for Central Hypoventilation Syndrome
When your newborn struggles to breathe properly, the worry can be overwhelming. Congenital Central Hypoventilation Syndrome (CCHS) is a rare but serious condition where babies don’t breathe adequately, especially during sleep. Our ASCL1 gene test provides the clarity and answers you need to protect your child’s health and give you peace of mind.
What Does This Test Detect?
The ASCL1 gene test uses Next Generation Sequencing (NGS) technology to identify mutations in the ASCL1 gene that cause congenital central hypoventilation syndrome. This condition affects the automatic control of breathing, meaning affected individuals may stop breathing during sleep or may not breathe deeply enough to maintain normal oxygen levels.
Our advanced genetic analysis provides comprehensive screening for this rare disorder, helping families understand their genetic risks and make informed healthcare decisions.
Who Should Consider This Test?
This test is particularly important for:
- Newborns with unexplained breathing difficulties, especially during sleep
- Infants who appear to “forget” to breathe or have irregular breathing patterns
- Children with bluish skin colour (cyanosis) due to low oxygen levels
- Families with a history of sudden infant death or breathing-related disorders
- Parents planning future pregnancies who have concerns about genetic conditions
- Individuals diagnosed with CCHS who want genetic confirmation
Early detection through genetic testing can be life-saving for affected infants.
Why Early Detection Matters for Your Family’s Health
Identifying CCHS early through ASCL1 gene testing provides crucial benefits:
- Life-saving interventions: Early diagnosis allows for proper respiratory support and monitoring
- Treatment planning: Helps healthcare providers develop appropriate care strategies
- Family planning guidance: Understand recurrence risks for future pregnancies
- Peace of mind: Reduces uncertainty and provides clear answers
- Prevent complications: Early management can prevent serious health consequences
Knowing your genetic status empowers you to take proactive steps for your child’s health.
Understanding Your Test Results
We make understanding your genetic results simple and reassuring:
- Positive Result: Indicates an ASCL1 gene mutation associated with CCHS. Our genetic counsellors will explain what this means for your child’s care and management.
- Negative Result: No mutation detected, significantly reducing the likelihood of CCHS.
- Uncertain Variant: Rarely, we may find a genetic change of uncertain significance. Our experts will guide you through next steps.
Every test includes genetic counselling to ensure you fully understand your results and their implications.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Turnaround Time |
|---|---|---|---|
| ASCL1 Gene CCHS NGS Test | ZAR 6,700 | 3-4 Weeks |
What’s Included: Comprehensive NGS analysis, genetic counselling session, detailed results report, and professional interpretation.
Sample Collection: Simple blood draw, extracted DNA, or one drop of blood on FTA card
Why Trust Oracle Genomics?
- Nationwide Coverage: Available in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Specialised cardiology and genetic testing services
- Advanced Technology: State-of-the-art NGS genetic sequencing
- Professional Support: Genetic counselling included with every test
- Accuracy Guarantee: Rigorous quality control and validation processes
- Patient-Focused Care: Compassionate support throughout your testing journey
Take the First Step Toward Answers Today
Don’t let uncertainty about your child’s breathing keep you awake at night. Our ASCL1 gene test provides the clarity you need to make informed healthcare decisions.
Limited Time Offer: Special pricing of ZAR 6,700 available for a limited period. Regular price ZAR 9,350.
Convenient Nationwide Access: Testing available throughout South Africa with easy sample collection options.
Test Preparation Requirements
To ensure the most accurate results, please bring:
- Complete clinical history of the patient
- Information about family members affected by breathing disorders
- Be prepared for a genetic counselling session to create a family pedigree chart
Our team will guide you through every step of the process with compassion and professionalism.
