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.
Clinical factors like seizure type and comorbidities guide decision-making in genetic testing for epilepsy.
Barriers to genetic testing include limited access and challenges in interpreting complex results.
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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.