Resources for Undiagnosed

One of SynGAP Research Fund’s goals is to find more patients. SYNGAP1 variants are surprisingly common, with the incidence reported as 6 per 100,000 or 1 per 16,000 individuals. This comprises approximately 1-2% of all Intellectual Disability (ID) cases, making it one of the most common genetic causes of ID.

Probably Genetic Symptom Checker

SynGAP Research Fund 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 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 the short quiz at 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.

>>Fill out the quiz here.

Project FIND-OUT

SynGAP Research Fund’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.

Learn more at the Project FIND-OUT website.