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June 5, 2024

Stamford’s GeneDx launches program to expand genetic testing for pediatric epilepsy patients

Contributed GeneDx CEO Katherine Stueland.

GeneDx, a Stamford-based genomic testing firm formerly known as Sema4, said Wednesday it is launching a new program intended to increase access to exome sequencing for pediatric epilepsy patients.

Exome sequencing is a type of genetic sequencing used to understand what may cause symptoms or a disease.

GeneDx said the access program was developed in partnership with leading biopharma companies.

Exome testing is recommended by the National Society of Genetic Counselors as a first-line test for people with unexplained epilepsy, and the guidelines are endorsed by the American Epilepsy Society, the company said.

Research shows that a genetic diagnosis can further guide clinical decisions, with patients experiencing up to 90% seizure reduction in some cases, and up to 80% of cases having implications for treatment and management, GeneDx said.

However, access to testing is sparse, and genetic diagnosis for rare disorders, including epilepsy, can take up to five years, the company said.

To be eligible for the program: epilepsy patients must meet certain criteria, including:

They must reside in the United States.

  • A patient’s provider must be authorized under applicable law to order genetic testing in the United States.
  • A patient must have experienced their first unprovoked seizure under 8 years of age.
  • A patient must not have had prior genetic testing performed by a clinical laboratory that confirmed a diagnosis of a neurodevelopmental disorder (NDD), and
  • A patient must be less than 18 years old.

The new patient access program is rolling out to select ordering providers as of Wednesday, with a complete availability in July, the company said. For information, visit

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