Latest / The KCNA2 & Rare Epilepsy’s Podcast
Genetic Testing in Rare Epilepsy: What Families Need to Know with Gillian Prinzing & Nancy Musarra
In this episode of the KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Msara speaks with licensed genetic counselor Gillian Prinzing from Boston Children’s Hospital about genetic testing in epilepsy.
They talk through what genetic testing is, why it may be recommended, the different types of testing families may hear about, and what results like a diagnosis or a variant of uncertain significance (VUS) can mean in real life. They also discuss retesting, reanalysis, family testing, and why genetic results are meant to inform care, not define a person.
This episode is for families looking for answers…
The skinny
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