Understanding TSR2 Gene Testing for Diamond-Blackfan Anemia Type 14
When you’re concerned about rare blood disorders or facial development conditions in your family, the uncertainty can feel overwhelming. We understand that waiting for answers about genetic conditions like Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis creates significant anxiety. At Oracle Genomics, we’re here to provide the clarity and confidence you need through our specialised TSR2 gene testing service.
Many South African families face the challenge of understanding complex genetic conditions, often feeling isolated in their search for answers. Our comprehensive testing approach combines medical expertise with compassionate care, ensuring you receive not just results, but meaningful guidance for your health journey.
What This Test Detects
The TSR2 gene test specifically identifies mutations in the TSR2 gene that cause Diamond-Blackfan anemia type 14, a rare inherited blood disorder often accompanied by mandibulofacial dysostosis (facial and jaw development abnormalities). Using Next-Generation Sequencing (NGS) technology, we analyse your DNA with exceptional precision to detect even the smallest genetic variations.
This isn’t just another genetic test – it’s a comprehensive analysis that provides definitive answers about your genetic makeup related to these specific conditions. Our advanced technology ensures 99.9% accuracy, giving you the reliable information needed for informed healthcare decisions.
Who Should Consider This Test?
This test is particularly important if you or your family members experience:
- Unexplained anemia that doesn’t respond to typical treatments
- Facial abnormalities including underdeveloped cheekbones or jaw
- Family history of Diamond-Blackfan anemia or similar blood disorders
- Planning pregnancy with known family genetic risks
- Children showing developmental delays with facial features
- Unexplained fatigue and pale skin in combination with facial characteristics
Many patients from Johannesburg to Cape Town have found life-changing answers through early genetic testing, allowing for proactive health management and family planning decisions.
Why Early Detection Matters for Your Health
Getting tested for TSR2 gene mutations provides more than just answers – it offers peace of mind and proactive health management opportunities. Early detection through our genetic testing can:
- Enable early intervention and appropriate treatment planning
- Provide clarity for family planning decisions
- Reduce anxiety through definitive diagnosis
- Guide appropriate specialist care with hematologists
- Help understand inheritance patterns for future generations
- Prevent unnecessary medical investigations and treatments
Patients across Durban and Pretoria have reported significant relief after receiving clear genetic information, allowing them to move forward with confidence in their healthcare journey.
Understanding Your Test Results
We know that waiting for genetic test results can be stressful. That’s why we provide comprehensive support throughout the process. Your results will clearly indicate:
- Presence or absence of TSR2 gene mutations
- Specific type of mutation detected (if any)
- Interpretation of what the results mean for your health
- Recommendations for next steps and specialist care
- Genetic counselling to understand family implications
Our team of genetic specialists ensures you understand your results completely, providing guidance and support every step of the way. No medical jargon – just clear, compassionate explanations.
Transparent Pricing – No Hidden Costs
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| TSR2 Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling Session | Included at no extra cost | ||
| Family Pedigree Analysis | Included in package | ||
Test Details:
- 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
- Specialty: Hematologist supervised
- Method: Advanced NGS Technology
Why Trust Oracle Genomics?
As South Africa’s leading genetic testing provider, we’ve helped thousands of patients across the country find answers to their health concerns. Our commitment includes:
- Nationwide Coverage: Accessible testing from Johannesburg to Cape Town, Durban to Pretoria
- Medical Expertise: Specialist hematologists and genetic counsellors
- Advanced Technology: State-of-the-art NGS testing for maximum accuracy
- Complete Support: From initial consultation to results explanation
- Proven Track Record: Trusted by healthcare professionals nationwide
We understand that genetic testing is more than just science – it’s about people, families, and peace of mind.
Take Control of Your Health Journey Today
Don’t let uncertainty about genetic conditions control your life. Early detection through our TSR2 gene testing can provide the answers you need to move forward with confidence.
Limited Time Special: Book your test at the special ZAR 6,700 price (save ZAR 2,650)
Every day you wait is another day without answers. Take the first step toward clarity and peace of mind by booking your TSR2 gene test today. Our compassionate team is ready to support you through this important health decision.
“The relief of knowing gave our family the direction we needed for proper care and planning.” – Recent Oracle Genomics Patient
