Find Answers for Diamond Blackfan Anemia Type 15
When you’re concerned about symptoms of anemia or facial abnormalities in your child, getting clear answers becomes your top priority. Our RPS28 gene test provides the definitive diagnosis you need to move forward with confidence and appropriate medical care.
Understanding the RPS28 Gene Test
This advanced genetic test uses Next-Generation Sequencing (NGS) technology to examine the RPS28 gene for mutations that cause Diamond Blackfan anemia type 15 with mandibulofacial dysostosis. Diamond Blackfan anemia is a rare inherited bone marrow failure syndrome that affects red blood cell production, while mandibulofacial dysostosis involves distinctive facial features including underdeveloped cheekbones and jaw.
The test provides comprehensive analysis of the RPS28 gene, which plays a crucial role in ribosome formation and protein synthesis. When this gene contains mutations, it disrupts normal blood cell development and can cause the characteristic symptoms of this condition.
Who Should Consider This Genetic Test?
This test is particularly important if you or your child experience:
- Persistent anemia that doesn’t respond to typical treatments
- Physical signs of mandibulofacial dysostosis (underdeveloped facial bones)
- Family history of Diamond Blackfan anemia or similar blood disorders
- Unexplained fatigue, pale skin, or shortness of breath in infants or children
- Multiple miscarriages or pregnancy complications with similar symptoms
Early genetic testing can provide crucial information for treatment planning and help prevent complications associated with delayed diagnosis.
Why Early Detection Matters for Your Health
Getting an accurate diagnosis through genetic testing offers significant benefits:
- Personalised Treatment: Guide steroid therapy, blood transfusions, or bone marrow transplant decisions
- Family Planning: Understand inheritance patterns and risks for future children
- Prevent Complications: Early intervention can prevent growth delays and other health issues
- Peace of Mind: Replace uncertainty with clear understanding and appropriate medical management
- Genetic Counselling: Professional guidance to help your family understand and cope with the diagnosis
Understanding Your Test Results
Our comprehensive reporting makes your results easy to understand:
- Clear Interpretation: Detailed explanation of any RPS28 gene mutations found
- Clinical Significance: What the results mean for your health and treatment options
- Inheritance Patterns: How the condition may affect other family members
- Genetic Counselling Session: Personal consultation to discuss results and next steps
- Medical Referral: Connection to hematology specialists if needed
Our team ensures you have all the support and information needed to make informed healthcare decisions.
Transparent Pricing – No Hidden Costs
| Service | Regular Price | Special Price |
|---|---|---|
| RPS28 Gene Test with Genetic Counselling | ZAR 6,700 |
Your investment includes: Comprehensive NGS analysis, genetic counselling session, detailed results report, and professional medical interpretation.
Turnaround Time: 3-4 weeks from sample receipt
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
Why Trust Oracle Genomics?
- Nationwide Coverage: Available throughout South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Medical Expertise: Specialised hematology focus with genetic counselling integration
- Advanced Technology: State-of-the-art NGS testing for maximum accuracy
- Patient-Centred Care: Empathetic support throughout your testing journey
- Professional Standards: Highest quality laboratory practices and reporting
Take the First Step Toward Answers Today
Don’t let uncertainty about Diamond Blackfan anemia type 15 delay your family’s health decisions. Our genetic test provides the clarity you need to move forward with confidence.
Book your test now and receive:
- Comprehensive RPS28 gene analysis
- Professional genetic counselling session
- Detailed results interpretation
- Nationwide accessibility
Early detection through genetic testing can significantly improve treatment outcomes and quality of life. Take control of your family’s health journey today.
