One of CTNNB1 Connect and Cure’s goals is to find more patients. CTNNB1 variants are surprisingly common, with the incidence reported as 3 per 100,000.
CTNNB1 Connect and Cure has partnered with Probably Genetic to increase access to genetic testing within our community. Probably Genetic’s no-cost genetic testing program for pediatric epilepsy disorders and cerebral palsy is patient-initiated and includes genetic counseling to explain any questions or findings. If you or a loved one are experiencing symptoms associated with pediatric epilepsy or developmental disorders, you can apply to the program by completing a short quiz using the link below. Eligible individuals receive a sample collection kit mailed directly to their home, with a return pickup service included. Results are delivered 6-8 weeks after samples are received at the lab, with genetic counseling conducted virtually or over the phone.
CTNNB1 Connect and Cure’s partner COMBINEDBrain has launched Project FIND-OUT, a new program to help facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders in infants between the ages of 3-12 months in the United States.