Figure 3.
Recommendations for clinical genetic testing in children with ASD. Genetic screening in autism should be undertaken in stepwise fashion to integrate clinical history with state-of-the-art testing in the most efficient manner. In all children with ASD, chromosomal microarray analysis should be conducted, as well as detailed family history and clinical examination for signs of known or cryptic genetic syndromes. At this stage, other testing can recommended depending on other phenotypic features, such as the sex of the child or presence of macrocephaly. Genetic counselling is a key component of any clinical genetic analyses. Abbreviations: ASD, autism spectrum disorder; HC, head circumference.