Exon level array utility in follow up to identification of copy number variants on expanded carrier screening

Many of the clinically available expanded carrier screening panels include copy number variant (CNV) analysis through next-generation sequencing (NGS) and/or other methodologies. Identified CNVs may be restricted to the gene in question or represent a larger gain or loss of genetic material that can only be partially detected by the technology utilized for traditional carrier screening. When a CNV extends beyond the gene identified on carrier screening, additional disease genes may be involved, and this can have significant clinical implications.