Finding Answers for Your Baby’s Neurological Health
When your infant experiences unexplained seizures and developmental delays, the uncertainty can be overwhelming. As parents, you deserve clear answers and a path forward. Our EEF1A2 Gene Test provides the definitive genetic diagnosis needed to understand early infantile epileptic encephalopathy type 33, giving South African families the clarity and direction they desperately need.
Understanding the EEF1A2 Genetic Test
This advanced Next-Generation Sequencing (NGS) test examines the EEF1A2 gene, which plays a crucial role in brain development and function. When mutations occur in this gene, they can cause severe epilepsy syndromes that appear in early infancy. Our test doesn’t just identify if there’s a problem – it pinpoints the exact genetic variation, providing the specific information neurologists need to develop targeted treatment strategies.
Using state-of-the-art technology, we analyse your baby’s DNA with exceptional accuracy, ensuring you receive reliable results that can guide critical healthcare decisions during this vulnerable developmental period.
Who Should Consider This Test?
This test is essential for infants showing concerning neurological symptoms, particularly if you’ve noticed:
- Unexplained seizures starting in the first months of life
- Developmental delays or regression in motor skills
- Abnormal muscle tone or movement patterns
- Feeding difficulties or poor weight gain
- Family history of similar neurological conditions
- Lack of response to standard epilepsy medications
If your paediatrician or neurologist has mentioned concerns about epileptic encephalopathy, this test provides the genetic confirmation needed for accurate diagnosis and treatment planning.
Why Early Detection Matters for Your Child’s Future
Receiving a definitive genetic diagnosis transforms your approach to your child’s care. With clear EEF1A2 gene results, you can:
- Access targeted treatments specifically designed for genetic epilepsy syndromes
- Work with neurologists to develop personalised management plans
- Understand the prognosis and potential developmental trajectory
- Make informed decisions about future family planning
- Connect with support networks for families facing similar challenges
- Reduce the diagnostic odyssey and multiple hospital visits
Early genetic diagnosis means earlier intervention, which can significantly improve developmental outcomes and quality of life for children with epileptic encephalopathy.
Understanding Your Test Results
We know waiting for genetic test results can be anxiety-provoking. Our team provides clear, compassionate explanations of your findings:
- Positive Result: Identifies a specific EEF1A2 gene mutation, confirming the diagnosis and enabling targeted treatment approaches
- Negative Result: Rules out EEF1A2-related encephalopathy, allowing your medical team to explore other potential causes
- Variant of Uncertain Significance: Identifies a genetic change where more research is needed, with guidance on next steps
Every result includes a comprehensive report and access to genetic counselling to ensure you fully understand the implications for your child’s care and your family’s health.
Transparent Pricing for South African Families
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| EEF1A2 Gene Test | R6,700 | R2,650 | |
| Genetic Counselling Session | Included at no extra cost | ||
| Family Pedigree Analysis | Included in comprehensive service | ||
Turnaround Time: 3-4 weeks
Sample Type: Blood, Extracted DNA, or Blood on FTA Card
Why South African Families Trust Oracle Genomics
We understand the unique healthcare needs of South African families and have built our service around your trust and peace of mind:
- Nationwide Coverage: Accessible testing across Johannesburg, Cape Town, Durban, Pretoria and throughout South Africa
- Medical Expertise: Collaboration with leading neurologists and genetic specialists
- Accuracy Guarantee: State-of-the-art NGS technology ensuring reliable results
- Comprehensive Support: Genetic counselling included to help you understand results and next steps
- Local Understanding: Designed specifically for South African healthcare contexts and family needs
Take the First Step Toward Answers Today
Don’t let uncertainty about your infant’s neurological health continue. Early genetic testing can provide the clarity needed to pursue the most effective treatments and support your child’s development.
Book your EEF1A2 Gene Test now and receive:
- Special pricing of R6,700 (save R2,650)
- Comprehensive genetic counselling session
- Family pedigree analysis
- Clear, actionable results in 3-4 weeks
- Nationwide accessibility across South Africa
Contact us today to schedule your test and begin the journey toward understanding your child’s neurological health. Our compassionate team is ready to support your family through this important process.
