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Join us: Panel discussion & refreshments at the 2023 American Epilepsy Society meeting

The Clinical and Personal Value of a Genetic Diagnosis for Epilepsy: Patient and Caregiver Perspectives

Saturday, December 2, 2023 | 6:00 – 7:30pm ET

1-hour panel discussion followed by an interactive Q&A session

Dr. Mefford will review the current guidelines, which recommend genomic sequencing for patients with epilepsy1,2 and the clinical utility of genomic sequencing for patient care and management.

Panelists will discuss: 

  • the impact that genomic sequencing had on their children’s journeys with various forms of epilepsy. 
  • their lived experiences with genomic sequencing including key benefits and gaps in the current process from a caregiver’s perspective.

Moderator:

Heather Mefford, MD, PhD, FACMG, Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital

 

Panelists: 

  • Melissa Hioco, STXBP1 Foundation, Parent of an individual with STXBP1-related disorder 
  • Cathy Rapsas, HNRNP Family Foundation, Parent of an individual with HNRNPU-related disorder 
  • Shawn Egan, FamileSCN2A Foundation, Parent of an individual with SCN2A-related disorder 

Disclaimer: Opinions presented during this industry-sponsored satellite educational activity are those of the speakers and/or the sponsor and are not a reflection of American Epilepsy Society opinions, nor are they supported, sponsored or endorsed by the American Epilepsy Society. 

References: 

  1. Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2022 Oct 24. doi.org/10.1002/jgc4.1646 
  2. Sheidley BR, Malinowski J, Bergner AL, et al. Genetic testing for the epilepsies: A systematic review. Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. Epub 2021 Dec 10.