SYNGAP1 Sequencing

Test Background

Intellectual disability affects approximately 1-3% of the general population. Most individuals with intellectual disability have a nonsyndromic form. A study by Hamdan F et al. identified mutations in the SYNGAP1 gene in individuals with intellectual disability. No pathogenic mutations were identified in normal controls or in individuals with autism or schizophrenia. Additionally, the parents of the patients with a SYNGAP1 mutation were not found to have the same mutation suggesting that they were de novo. Disruption of the SYNGAP1 gene is associated with moderate to severe intellectual disability as well as severe language impairment. It is inherited in an autosomal dominant manner.

This laboratory performs Sanger sequencing of the SYNGAP1 gene.



About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

Leave a Comment