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 recognizable genetic syndrome.
Current guidelines exist for two 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 (released online March 15), researchers compared these two 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 percent) had abnormal genetic results, and fragile X testing was abnormal in 4 of 861 patients (0.4 percent). CMA identified abnormal results in 59 of 848 patients (7 percent), yielding the highest detection rate of the three tests.
Study authors conclude that CMA testing should be a first-tier test in 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
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