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Opinion|Videos|November 14, 2024

Key Considerations for Genetic Testing Selection in Pediatric Patients with Epilepsy

Key Takeaways

  • Genetic testing is vital for diagnosing epilepsy with a suspected genetic basis, especially in early-onset or treatment-resistant cases.
  • Pediatric genetic test selection considers age, clinical presentation, and family history, ensuring appropriate test choice.
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John Michael Schreiber, MD, expands on the role of genetic testing in identifying and diagnosing epilepsy, discussing when it is clinically indicated and who should receive it, while also addressing key considerations for selecting tests for pediatric patients based on individual presentations and clinical factors, and outlining how to choose the best testing options while recognizing potential barriers and expectations for health care providers, caregivers, and patients before and after testing.

Episodes in this series
  1. Please expand on the role of genetic testing in epilepsy identification and diagnosis.
    1. When is genetic testing clinically indicated, and who is best suited to receive genetic testing?
  2. Please discuss key considerations when selecting genetic tests for pediatric patients with epilepsy.
    1. How does a patient’s presentation and other clinical factors influence your decision-making?
  3. Please outline how you choose the best testing option for patients. What, if any, barriers exist?
    1. What should HCPs, caregivers, and patients expect before and after the test?

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