U.S. Department of Health and Human Services

Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - Technical Brief Number 23 U.S. Department of Health and Human Services

This Technical Brief collects and summarizes information on genetic tests clinically available in the United States to detect genetic markers that predispose to DDs. It also identifies, but does not systematically review, existing evidence addressing the tests' clinical utility. This Brief primarily focuses on patients with idiopathic or unexplained DDs, particularly intellectual disability, global developmental delay, and autism spectrum disorder. Several better-defined DD syndromes, including Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, velocardiofacial syndrome, and Williams syndrome are also included. Patient-centered health outcomes (e.g., functional or symptomatic improvement) and intermediate outcomes (e.g., changes in clinical decisions or family reproductive decisions, the tests' diagnostic accuracy and analytic validity) are examined.