When standard testing isn’t enough: finding answers through exome sequencing

Turning uncertainty into informed clinical decision-making

Clarifying the cause of cerebral palsy with genetic testing

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“My youngest child, Estella, was diagnosed at eight months old with an ultra-rare neurological disease called alternating hemiplegia of childhood. The power of a genetic diagnosis brought more than answers to my family; it brought a sliver of hope and potential for the future.”—Lacey

Hannah’s seizures began in infancy and persisted into adulthood, despite getting an epilepsy diagnosis. Exome sequencing at 25 years old revealed a de novo pathogenic loss-of-function variant that made her medications contraindicated. Earlier testing could have changed her treatment path—and potentially prevented years of ineffective care.^†

Ethan experienced his first grand mal seizure and was admitted to the hospital at 15 months old. It was the start of a diagnostic odyssey that continued into adulthood, until he finally received an exome test at 19 years old that provided clarity to guide his care.^†