Study Demonstrates the Utility of Exome Sequencing for Diagnosing Autism Spectrum Disorders
STAMFORD, Conn., Oct. 13, 2022 (GLOBE NEWSWIRE) -- Sema4 (Nasdaq: SMFR), a health insights company, is presenting research today on autism spectrum disorders (ASD) at the Child Neurology Society (CNS) Annual Meeting. The research underscores the positive outcomes of exome analysis for individuals with ASD, supporting the use of a broader genetic testing approach to reach a faster diagnosis. This study of almost 19,000 individuals is one of the few to examine the genetic basis of autism and current guidelines around screening and testing.
- This study of almost 19,000 individuals is one of the few to examine the genetic basis of autism and current guidelines around screening and testing.
- The study evaluated exome analysis for individuals with ASD against current testing methods and provided proof points that exome sequencing should be a first-tier test for ASD.
- The median ages at testing in this analysis were 6.4 and 8.4 years for both isolated and syndromic ASD; exome sequencing provided higher diagnostic rates of 7.9-21%.
- Additionally, this study revealed a high number of emerging genes not previously connected to autism.