Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - Technical Brief Number 23

Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - Technical Brief Number 23

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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 syndro...