NYU Langone Health Comprehensive Epilepsy Center with specialized Neuro genetics Experts
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It sounds like a really challenging journey, and it's completely understandable to have questions about genetic testing. When seizures are hard to control despite trying multiple medications, genetic testing can be a really valuable next step.
Genetic testing can help in several important ways:
- Pinpoint the cause of your Show Full Answer
It sounds like a really challenging journey, and it's completely understandable to have questions about genetic testing. When seizures are hard to control despite trying multiple medications, genetic testing can be a really valuable next step.
Genetic testing can help in several important ways:
- Pinpoint the cause of your son's epilepsy, which can guide better treatment decisions
- Help doctors choose the right medications — some medications may actually make certain genetic forms of epilepsy worse
- Give insight into outlook — for some genetic epilepsies, doctors can better predict what to expect over time
- Open doors to specialists and resources, especially for harder-to-treat cases There isn't one single test that covers all genetic epilepsies, so your son's doctor may recommend one or more of the following:
- Epilepsy gene panel
- Whole-exome sequencing (WES)
- Whole-genome sequencing (WGS)
- Chromosome microarray (used in specific cases)
Most of these tests only require a blood or saliva sample, so they're not invasive. A genetic counselor can walk you through the results in plain language and help make sense of what they mean for your son's treatment. Asking your son's neurologist for a referral to a genetic counselor alongside the testing is a great idea.
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