Understanding Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis
If you’re worried about your child’s development or have concerns about inherited blood disorders in your family, you’re not alone. Many South African families face uncertainty when symptoms suggest Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis. This rare genetic condition affects both blood cell production and facial bone development, creating unique challenges for affected children and their families.
What This Test Detects
Our advanced NGS genetic test specifically examines the TSR2 gene for mutations that cause Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis. This comprehensive analysis identifies genetic variations that disrupt normal red blood cell production and affect facial bone formation, providing crucial information for accurate diagnosis and treatment planning.
Who Should Consider This Test
This test is particularly important for:
- Children showing symptoms of anemia, fatigue, or pale skin
- Infants with unusual facial features or bone development concerns
- Families with a history of Diamond-Blackfan anemia or similar blood disorders
- Parents planning future pregnancies who want genetic clarity
- Children with delayed growth or developmental concerns
Why Early Detection Matters for Your Family’s Health
Early genetic testing provides life-changing benefits:
- Accurate Diagnosis: Eliminate uncertainty and get definitive answers
- Personalised Treatment: Enable targeted medical interventions
- Family Planning: Make informed decisions about future pregnancies
- Peace of Mind: Reduce anxiety through clear understanding
- Improved Outcomes: Early intervention leads to better health results
Understanding Your Test Results
Our genetic counsellors provide clear, compassionate explanations of your results. You’ll receive:
- Detailed analysis of TSR2 gene mutations
- Clear interpretation of what results mean for your family
- Personalised recommendations for next steps
- Ongoing support and guidance
- Connection to specialist healthcare providers if needed
Comprehensive Pricing and Value
| Service | Regular Price | Special Price |
|---|---|---|
| TSR2 Gene Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling Session | Included | |
| Family Pedigree Analysis | Included | |
| Results Interpretation | Included | |
Test Details:
- Turnaround Time: 3-4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Method: Advanced NGS Technology
- Accuracy: 99.9% reliability
Why Trust Oracle Genomics?
We’re committed to providing South African families with:
- Nationwide Coverage: Accessible testing across Johannesburg, Cape Town, Durban, Pretoria and beyond
- Expert Genetic Counsellors: Professional guidance throughout your journey
- Advanced Technology: State-of-the-art NGS testing for maximum accuracy
- Patient-First Approach: Compassionate care that puts your family first
- Proven Track Record: Trusted by healthcare providers nationwide
Take Action for Your Family’s Health Today
Don’t let uncertainty about genetic conditions create unnecessary stress. Early detection through our TSR2 gene test can provide the clarity and direction your family needs. Our special ZAR 6,700 pricing makes this life-changing information more accessible than ever.
Book your test today and take the first step toward genetic clarity and peace of mind.
Contact us now to schedule your genetic counselling session and testing. Our team is ready to support you through every step of this important health journey.
