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Chromosomal Microarray More Effective at Detecting Autism Than Current Tests ELK GROVE VILLAGE, Ill -- March 17, 2010 -- Genetic factors increase the risk of developing autism spectrum disorder (ASD), but the specific genetic cause for an individual patient can be elusive. Genetic testing is crucial to identifying a cause for ASD in many children who do not have an easily recognisable genetic syndrome. Current guidelines exist for 2 types of genetic testing -- G-banded karyotype and fragile X DNA testing. In the study, “Clinical Genetic Testing for Patients with Autism Spectrum Disorders,” published in the April issue of Pediatrics, Yiping Shen, PhD, Autism Consortium, Boston, Massachusetts, and colleagues compared these 2 methods of genetic testing with a third method: chromosomal microarray (CMA). In a cohort of 933 patients with ASD, karyotype testing found 19 of 852 patients (2.2%) had abnormal genetic results, and fragile X testing was abnormal in 4 of 861 patients (0.4%). In comparison, CMA identified abnormal results in 59 of 848 patients (7%), yielding the highest detection rate of the 3 tests. Interpretation of microarray data is complicated by the presence of both novel and recurrent copy-number variants of unknown significance. Despite these limitations, CMA should be considered as part of the initial diagnostic evaluation of patients with ASD. Establishing a clear genetic diagnosis may lead to earlier services for children with autism, and thus improved outcomes. SOURCE: American Academy of Pediatrics E-mail this page to a friend or colleague! To print, use this version