Understanding Cornelia de Lange Syndrome: Your Path to Clarity and Peace of Mind
When you’re concerned about developmental delays, distinctive facial features, or growth challenges in your child or family member, the uncertainty can be overwhelming. Our NIPBL Gene Cornelia de Lange Syndrome Type 1 test provides the definitive answers you need through cutting-edge genetic technology. We understand the emotional journey you’re on, and we’re here to walk with you every step of the way.
What This Test Detects: Building Your Understanding
The NIPBL Gene test specifically examines the NIPBL gene, which plays a crucial role in proper development. When mutations occur in this gene, it can lead to Cornelia de Lange Syndrome Type 1 – a condition affecting multiple body systems. Our advanced Next-Generation Sequencing (NGS) technology provides the most accurate analysis available, giving you confidence in your results.
This isn’t just a test – it’s a comprehensive health assessment that includes genetic counselling to help you understand your family’s genetic landscape and make informed decisions about your health journey.
Who Should Consider This Test: Creating Relevance for Your Situation
This test is particularly important if you or your child experience:
- Developmental delays or intellectual disability
- Distinctive facial features (arched eyebrows, long eyelashes, thin lips)
- Growth restrictions or failure to thrive
- Upper limb abnormalities or small hands and feet
- Gastrointestinal issues or feeding difficulties
- Family history of similar symptoms or confirmed CdLS diagnosis
If you’re planning a family and have concerns about genetic inheritance, this test can provide valuable insights for your future.
Why This Matters for Your Health: Building Value and Peace of Mind
Early detection through genetic testing offers profound benefits for your family’s wellbeing:
- Clear Diagnosis: Move from uncertainty to understanding with definitive results
- Personalised Care: Enable targeted medical management and interventions
- Family Planning: Make informed decisions about future pregnancies
- Reduced Anxiety: Replace worry with knowledge and actionable information
- Early Intervention: Access appropriate therapies and support services sooner
Many families find that receiving a clear diagnosis brings relief and opens doors to specialised support networks and resources.
Understanding Your Results: Reducing Anxiety Through Clear Guidance
We know waiting for genetic test results can be stressful. That’s why we provide comprehensive support throughout the process:
- Clear Interpretation: Your results will be explained in understandable language
- Genetic Counselling: Professional guidance to help you understand implications
- Next Steps: Practical recommendations based on your specific results
- Ongoing Support: Access to resources and specialist referrals if needed
Whether your results confirm a diagnosis or provide reassurance, you’ll have the professional support you need to move forward confidently.
Transparent Pricing: Showing Value for Your Health Investment
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| NIPBL Gene Cornelia de Lange Syndrome Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
Turnaround Time: 3 to 4 weeks
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
Includes: Genetic counselling session and pedigree analysis
Consider this investment in your family’s health against the cost of ongoing uncertainty and delayed interventions. Early detection can lead to better outcomes and potentially reduce long-term healthcare costs.
Why Trust Oracle Genomics: Building Confidence in Our Expertise
We’ve built our reputation on accuracy, compassion, and professional excellence:
- Nationwide Coverage: Accessible testing across South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Advanced Technology: State-of-the-art NGS testing for maximum accuracy
- Medical Expertise: Collaboration with dermatologists and genetic specialists
- Patient-Centred Care: Empathetic support throughout your testing journey
- Confidential Service: Your privacy and data security are our priority
Thousands of South African families have trusted us with their genetic health concerns – join them in taking control of your health story.
Take the Next Step: Your Health Journey Starts Here
Don’t let uncertainty dictate your family’s future. With our special pricing of ZAR 6,700, there’s never been a better time to get the answers you deserve.
Limited Time Offer: This special pricing won’t last forever. Secure your family’s health clarity while you can still save ZAR 2,650.
Ready to transform uncertainty into understanding? Contact us now to begin your journey toward clarity and peace of mind.

