Diagnosis and Testing
What is the test for SYNGAP1?
Testing for SYNGAP1 can happen through a number of genetic tests that either look for changes in multiple genes at once or just look for changes in the single SYNGAP1 gene. These tests include the chromosomal microarray (also called an array Comparative genomic hybridization), whole exome sequencing, whole genome sequencing, or a sequencing of the SYNGAP1 gene. Additionally, there are some epilepsy panels from companies like Courtagen's Episeek that can also find gene changes or mutations in the SYNGAP1 gene.
All of these tests are performed with blood work but can be diagnosed in pregnancy using cells from the placenta or the amniotic fluid. Testing for SYNGAP1 is most often ordered by a medical geneticist or genetic counselor. To find a medical professional nearby who can discuss information and testing, a listing of medical geneticists can be found at the American College of Medical Geneticists website. To find a genetic counselor in an specific area, use the NSGC find a genetic counselor webpage.
Excellent information on SYNGAP1 can also be found on the NORD rare disease entry on NORD SYNGAP1 webpage as well as the main SYNGAP1 support group website: Bridge the Gap: Syngap Educational and Research Foundation.