Autism belongs to the neurodevelopmental disorders and is characterized by difficulties in social interaction and communication as well as stereotyped behavior. The first symptoms are observed before the age of 3 years, but the progression shows great clinical variability. It is a multifactorial disorder, for which genetic, neuroanatomical and environmental factors and coexisting pathological conditions contribute to its development. The main diagnostic criteria continue to be clinical using specifically designed behavioural tests. The last decade has seen significant advances internationally in the investigation of the genetic basis of autism.

Autism and autism spectrum disorders are a familial disorder, with heritability estimated at 80%-90%, and the empirical risk of recurrence in a family with an already affected child is estimated at 3-7%.

The genetic causes of autism include both deficiencies and additions of parts of the genetic material and point mutations in a variety of genes. However, due to the high genetic heterogeneity, a significant part of the genetic background of the disorder has remained unclear even today.

Currently, with AutismScreen® , an expanded genetic screen for autism and related disorders, 101 genes are being sequenced using next-generation sequencing (NGS).