Genetic Testing Patterns in SLC6A1-related Disorders

Patients with rare genetic neurodevelopmental and epilepsy conditions such as SLC6A1-related disorders often undergo lengthy diagnostic journeys, which may include multiple genetic tests. However, little is known about the genetic testing patterns that culminate in diagnosis. Using AllStripes’ real-world data (RWD) platform we collected medical records from patients with SLC6A1-related disorders and assessed their genetic testing and clinical history, including age at seizure onset. Our results underscore a need for further discourse surrounding diagnostic approaches including increased access to genetic testing. This poster was presented at the American Epilepsy Society’s Annual Meeting in December 2021.