CHOP-led Study Inspires Research on Use of Blood Tests to Diagnose Autism

Published on in CHOP News

Research spearheaded by Hakon Hakonarson, MD, PhD, from The Children’s Hospital of Philadelphia’s Research Institute, led to the discovery of genetic variants that could be helpful in diagnosing autism spectrum disorder (ASD) through blood tests. Lineagen Incorporated followed with a 9,000-person study that confirmed the gene’s association with ASD.

Today, researchers around the world continue to look for ways to diagnose children with ASD earlier. Late diagnosis makes kindergarten difficult for children with ASD due to social delays and sensory issues. Early intervention is proven to be the most effective, and earlier diagnosis would allow children to receive specialized services at a younger age.

Read more about these research efforts.