Purpose/Principle

The CHCO Custom Panel utilizes next-generation sequencing technology to detect germline variants in the requested selection of genes. The assay interrogates the coding regions and flanking intronic bases of the cited genes, with the capacity to detect sequence variants and copy number variants (CNVs). The CNV resolution threshold is approximately 1 Mb, although smaller events may be detected depending on regional complexity and data quality. This test is not intended to detect variants that are somatic in nature