Finding Answers for Your Infant’s Neurological Health
When your infant shows signs of developmental delays or unexplained seizures, the uncertainty can be overwhelming. The STXBP1 Gene Test provides the clarity South African families need to understand early infantile epileptic encephalopathy type 4. We understand the emotional journey you’re facing and provide compassionate, accurate genetic testing to guide your family’s healthcare decisions.
Understanding the STXBP1 Genetic Test
The STXBP1 gene plays a crucial role in brain development and function. When mutations occur in this gene, it can lead to early infantile epileptic encephalopathy type 4 – a serious neurological condition that affects infants in their first months of life. Our Next Generation Sequencing (NGS) technology examines the STXBP1 gene with exceptional precision, identifying even the smallest genetic variations that could be causing your infant’s symptoms.
This isn’t just another test – it’s a comprehensive diagnostic approach that combines advanced genetic analysis with professional genetic counselling. We help you understand the inheritance patterns and what the results mean for your child’s future development and treatment options.
Is This Test Right for Your Infant?
This genetic test is specifically designed for infants and families experiencing:
- Unexplained seizures in the first months of life
- Developmental delays or regression
- Abnormal muscle tone or movement disorders
- Feeding difficulties and poor weight gain
- Family history of similar neurological conditions
- Unresponsive epilepsy that doesn’t improve with standard treatments
If your infant has been diagnosed with epileptic encephalopathy or shows concerning neurological symptoms, this test can provide the answers you need to pursue targeted treatments and interventions.
Why Early Detection Matters for Your Child’s Future
Getting a definitive diagnosis through STXBP1 testing offers multiple life-changing benefits:
- Personalised Treatment Plans: Knowing the specific genetic cause allows neurologists to create targeted treatment strategies that may be more effective than general approaches
- Early Intervention Opportunities: Early diagnosis enables prompt access to developmental therapies and support services that can significantly improve outcomes
- Family Planning Guidance: Understanding the inheritance pattern helps families make informed decisions about future pregnancies
- Reduced Diagnostic Uncertainty: End the cycle of multiple tests and specialist visits with one definitive answer
- Connection to Support Networks: Join communities of families facing similar challenges and access specialised resources
Understanding Your Test Results
We know waiting for genetic test results can be anxiety-provoking. That’s why we provide comprehensive support throughout the process:
- Clear, Understandable Reports: Your results will be explained in plain language, with detailed explanations of what any findings mean
- Genetic Counselling Session: Included with your test, our genetic counsellors help you understand the implications for your child and family
- Clinical Correlation: We connect genetic findings with your infant’s specific symptoms and medical history
- Follow-up Recommendations: Receive clear guidance on next steps, including specialist referrals and treatment options
- Ongoing Support: Our team remains available to answer questions as you navigate treatment decisions
Remember: A positive result provides clarity and direction, while a negative result can help rule out STXBP1-related conditions and guide further investigation.
Transparent Pricing for South African Families
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| STXBP1 Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling | INCLUDED | ||
| Results Interpretation | INCLUDED | ||
| Sample Collection | INCLUDED | ||
Turnaround Time: 3-4 weeks
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Tests supervised by qualified neurologists and genetic specialists
- Advanced Technology: State-of-the-art NGS technology ensuring 99.9% accuracy
- Comprehensive Support: From initial consultation through to results explanation and follow-up care
- Proven Track Record: Thousands of South African families served with compassionate, reliable genetic testing
- Insurance Guidance: Assistance with medical aid claims and payment options
Take the First Step Toward Clarity Today
Don’t let uncertainty about your infant’s neurological health continue. Early diagnosis can make a significant difference in treatment outcomes and quality of life.
Limited Time Offer: Special pricing of ZAR 6,700 available for the next 30 days. Regular price ZAR 9,350.
“The clarity we gained from the STXBP1 test changed everything for our family. Finally, we had answers and a path forward.” – Johannesburg Parent
