Understanding Your Child’s Neurological Health: ERCC1 Gene Testing for COFS Syndrome
When you notice developmental delays or neurological concerns in your child, the uncertainty can be overwhelming. Our ERCC1 Gene Test provides the clarity South African families need to understand Cerebrooculofacioskeletal Syndrome Type 4 – a rare genetic condition that affects brain development, vision, and physical growth. With advanced genetic technology and compassionate care, we’re here to guide you through this journey with confidence and understanding.
What This Test Reveals About Your Child’s Health
The ERCC1 gene plays a crucial role in DNA repair and neurological development. When mutations occur in this gene, it can lead to Cerebrooculofacioskeletal Syndrome Type 4 (COFS4), a condition characterised by progressive brain abnormalities, eye problems, and skeletal issues. Our Next-Generation Sequencing (NGS) technology examines the ERCC1 gene with exceptional precision, identifying even the smallest genetic variations that could impact your child’s development.
This isn’t just a test – it’s a comprehensive health assessment that includes professional genetic counselling to help you understand inheritance patterns and family implications. We believe knowledge empowers better healthcare decisions.
Is This Test Right for Your Family?
Consider ERCC1 gene testing if your child shows:
- Unexplained developmental delays or regression
- Microcephaly (small head size) or brain abnormalities
- Vision problems or eye abnormalities
- Joint contractures or skeletal issues
- Poor growth or failure to thrive
- Family history of similar neurological conditions
Many South African families find peace of mind through early genetic testing, allowing for proactive healthcare planning and appropriate interventions.
Why Early Detection Matters for Your Child’s Future
Genetic testing for COFS Syndrome provides more than just answers – it offers direction. Early identification enables:
- Targeted Medical Management: Guide appropriate treatments and therapies
- Family Planning Insights: Understand inheritance risks for future pregnancies
- Reduced Diagnostic Uncertainty: End the cycle of inconclusive medical tests
- Proactive Healthcare: Plan for potential developmental challenges
- Emotional Peace: Replace uncertainty with understanding and control
For South African families, this knowledge can be life-changing, helping you navigate healthcare systems with confidence.
Understanding Your Results with Compassion
We know waiting for genetic results can be anxiety-provoking. That’s why we provide:
- Clear, Understandable Reports: Written in plain language with medical guidance
- Genetic Counselling Support: Professional interpretation of your results
- Family Implications: Understanding what results mean for relatives
- Next Steps Guidance: Clear recommendations for medical follow-up
- Ongoing Support: Access to our genetic specialists for questions
Your results will be delivered within 3-4 weeks, accompanied by comprehensive support to ensure you feel confident and informed.
Transparent Pricing for South African Families
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| ERCC1 Gene Test with Genetic Counselling | ZAR 6,700 | ZAR 2,650 | |
| Includes: NGS testing, genetic counselling session, comprehensive report, and professional interpretation | |||
This investment in your child’s health provides lifelong clarity and can prevent costly, unnecessary medical investigations.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing from Johannesburg to Cape Town, Durban to Pretoria
- Medical Expertise: Specialists in pediatric genetics with South African healthcare experience
- Advanced Technology: State-of-the-art NGS testing with 99.9% accuracy
- Compassionate Care: Understanding the emotional journey of genetic testing
- Local Support: Dedicated to serving South African families with cultural sensitivity
Take the First Step Toward Clarity Today
Don’t let uncertainty about your child’s development continue. Early genetic testing provides the answers you need to make informed healthcare decisions.
Limited Time Offer: Save ZAR 2,650 on comprehensive ERCC1 gene testing. Results in 3-4 weeks with included genetic counselling.
“The clarity we gained from genetic testing changed everything for our family. We finally had answers and a path forward.” – Johannesburg Parent
Test Information
- Turnaround Time: 3-4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Preparation: Clinical history and genetic counselling session included
- Method: Next-Generation Sequencing (NGS) Technology
- Specialty: Pediatric Genetics
