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Chromosomal microarray (CMA) testing provides diagnostic information for children with developmental delays, autism spectrum disorder, and congenital anomalies. CMA interpretation relies on clinical correlation, but there are no standards for what clinical information should be provided by ordering clinicians. These authors assessed whether access to detailed clinical information from the electronic medical record (EMR) beyond that provided to the reference laboratory affects interpretation of CMA test results.
A team of four pathologists, one genetic counselor, and one medical geneticist retrospectively reinterpreted 998 cases. Based on the reference lab's descriptive report, the team classified the original CMA findings as pathogenic/likel…