Incidence and Clinical Significance of Small Copy Number Variants Detected by Chromosomal Microarray Testing

Objective: Chromosomal microarray (CMA) is a first-tier clinical test in the evaluation of individuals with autism spectrum disorders, developmental delay, intellectual disability, and multiple congenital anomalies. Testing for our tertiary-care pediatric institution is currently performed at a reference laboratory via high-resolution CMA designed to detect and report changes down to 100 base pairs. In 2014, the first commercial CMA platform received premarket approval from the United States Food and Drug Administration. The approval required the system to filter out results for losses smaller than 25 kilobases (kb) …