Understanding Shwachman-Diamond Syndrome Genetic Testing
When your child experiences persistent health challenges like recurrent infections, growth delays, or digestive issues, the uncertainty can be overwhelming. Our SBDS Gene Shwachman-Diamond Syndrome NGS Genetic DNA Test provides the clarity and answers you need to move forward with confidence. This comprehensive genetic analysis helps identify the underlying cause of symptoms that may point to Shwachman-Diamond syndrome, a rare inherited condition affecting bone marrow function and pancreatic health.
What This Test Detects
This advanced genetic test specifically examines the SBDS gene for mutations that cause Shwachman-Diamond syndrome. Using cutting-edge Next-Generation Sequencing (NGS) technology, we can identify even the most subtle genetic variations with exceptional accuracy. The test analyses the entire SBDS gene sequence, providing a complete picture of your genetic profile related to this condition.
Who Should Consider This Test
This test is particularly important for individuals showing symptoms that may indicate Shwachman-Diamond syndrome, including:
- Infants or children with failure to thrive and growth delays
- Recurrent infections due to low white blood cell counts
- Digestive problems and pancreatic insufficiency
- Abnormal bone development or skeletal abnormalities
- Family history of bone marrow disorders or pancreatic issues
- Unexplained anaemia or bleeding tendencies
Why Early Detection Matters for Your Family’s Health
Early diagnosis of Shwachman-Diamond syndrome can significantly improve long-term health outcomes. With proper identification, healthcare providers can implement targeted treatments to manage symptoms, prevent complications, and enhance quality of life. Knowing your genetic status empowers you to make informed decisions about family planning and provides valuable information for managing your child’s healthcare journey.
Understanding Your Test Results
Our comprehensive approach includes genetic counselling to help you understand your results in the context of your family’s health history. We’ll explain what positive, negative, or variant of uncertain significance results mean for your health management. Our team provides clear guidance on next steps and connects you with appropriate specialists if needed.
Comprehensive Pricing & Value
| Service | Regular Price | Special Price |
|---|---|---|
| SBDS Gene Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling | Included | |
| Family Pedigree Analysis | Included | |
| Result Interpretation | Included | |
Trust & Professional Excellence
At Oracle Genomics, we combine medical expertise with compassionate care. Our NGS technology ensures 99.9% accuracy, and our turnaround time of 3-4 weeks provides timely answers when you need them most. We work closely with hematologists and genetic specialists across South Africa to ensure comprehensive care coordination.
Nationwide Accessibility
We’re proud to serve patients across South Africa with convenient testing locations in Johannesburg, Cape Town, Durban, Pretoria, and nationwide. Sample collection is simple and can be done through blood draw or FTA card blood spot, making the process accessible even in remote areas.
Take the Next Step Toward Clarity
Don’t let uncertainty about your child’s health create unnecessary stress. Our SBDS Gene Test provides the definitive answers you need to make informed healthcare decisions. With our special pricing of ZAR 6,700 and comprehensive support services, you’re investing in peace of mind and proactive health management.
Book your consultation today and take the first step toward understanding your genetic health. Our team is ready to provide the compassionate guidance and expert care your family deserves.
