Abstract
Purpose: Unlike whole exome/genome sequencing, chromosomal microarray (CMA) testing is complicated by the fact that a copy number variant (CNV) may harbor genes associated with the patient's phenotype as well as genes associated with a secondary finding. CMA is now the “first-tier” diagnostic test for individuals with developmental disabilities or congenital anomalies; however, the prevalence and significance of CNVs that encompass or disrupt one of the 56 American College of Medical Genetics and Genomics (ACMGG) secondary finding genes has not been systematically ascertained in a clinical pediatric population referred for routine diagnostic chromosomal SNP array analysis.
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