Finding Answers for Your Baby’s Seizures: AARS1 Gene Epilepsy Testing
When your infant experiences unexplained seizures, the uncertainty can be overwhelming. Every parent’s worst fear becomes reality as you watch your baby struggle with episodes that traditional treatments may not control. At Oracle Genomics, we understand the emotional journey South African families face when dealing with infantile epilepsy. Our AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 test provides the clarity you need to make informed decisions about your child’s care.
Understanding the AARS1 Gene Epilepsy Test
This specialised genetic test examines the AARS1 gene using advanced Next-Generation Sequencing (NGS) technology. The AARS1 gene provides instructions for making an enzyme essential for protein production in nerve cells. When mutations occur in this gene, it can lead to Early Infantile Epileptic Encephalopathy Type 29 – a severe form of epilepsy that typically begins in the first months of life.
Our test doesn’t just identify the presence of a mutation; it provides specific information about the exact genetic change, helping neurologists develop targeted treatment strategies that address the root cause rather than just managing symptoms.
Who Should Consider This Test?
This test is crucial for infants and young children experiencing:
- Unexplained seizures beginning in early infancy
- Seizures that don’t respond well to standard anti-epileptic medications
- Developmental delays or regression following seizure onset
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of early-onset epilepsy or developmental disorders
If your baby has been diagnosed with treatment-resistant epilepsy or shows developmental concerns alongside seizures, this test could provide the answers that change their treatment trajectory.
Why Early Detection Matters for Your Child’s Health
Early genetic diagnosis transforms epilepsy management by:
- Guiding Targeted Treatment: Specific genetic findings can direct neurologists toward more effective medication choices
- Preventing Developmental Damage: Early intervention may help protect cognitive development
- Family Planning Insights: Understanding the genetic basis helps families make informed reproductive decisions
- Reducing Diagnostic Uncertainty: Ending the exhausting cycle of inconclusive tests and treatments
- Connecting with Support: Genetic diagnosis often opens doors to specialised support networks and resources
Understanding Your Test Results
We know waiting for genetic test results can be anxiety-provoking. Our genetic counsellors will walk you through your results with compassion and clarity:
- Positive Result: Identifies a mutation in the AARS1 gene. Our team will explain what this means for your child’s treatment and connect you with appropriate specialists
- Negative Result: No AARS1 mutation detected. This helps narrow down potential causes and directs further investigation
- Uncertain Variant: Sometimes we find genetic changes of unknown significance. We’ll explain what this means and recommend next steps
Regardless of your results, you’ll leave with a clearer understanding of your child’s condition and a path forward.
Transparent Pricing – Investing in Your Child’s Future
| Service | Regular Price | Special Price |
|---|---|---|
| AARS1 Gene Epilepsy Test | ZAR 6,700 | |
| Genetic Counselling Session | Included | |
| Family Pedigree Analysis | Included | |
Consider this: The cost of ongoing specialist visits, multiple medications, and developmental therapies without a clear diagnosis can far exceed the investment in this definitive genetic test.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and throughout South Africa
- Medical Expertise: Tests supervised by qualified neurologists and genetic specialists
- Advanced Technology: State-of-the-art NGS technology ensuring 99.9% accuracy
- Rapid Turnaround: Results typically within 3-4 weeks
- Comprehensive Support: Pre-test genetic counselling and detailed result explanation included
- Local Understanding: We understand the unique healthcare challenges facing South African families
Take the First Step Toward Answers Today
Every day without a clear diagnosis means another day of uncertainty for your child. Don’t let another seizure episode leave you wondering what’s happening to your baby.
Book your test now and get:
- Same-day appointment scheduling at your nearest centre
- Comprehensive genetic counselling before testing
- Clear, compassionate result explanation
- Referrals to appropriate specialists if needed
Limited special pricing available. Early detection could change your child’s developmental trajectory.
Test Information
- Turnaround Time: 3-4 weeks
- Sample Type: Blood
- Preparation Required: Clinical history and genetic counselling session to create family pedigree
- Specialty: Neurology
- Technology: Next-Generation Sequencing (NGS)
