Purpose/Principle

The CHCO Custom Panel utilizes next-generation sequencing technology to detect germline variants in the requested selection of genes. The assay evaluates the coding regions and adjacent intronic bases of the specified genes for DNA variants. Copy number events are assessed by supplementing the exonic regions of interest with uniformly placed genomic hybridization probes. The assay is designed to detect SNV and small indel events with >99% accuracy and CNV events with a >1 MB resolution. This test is not intended to detect variants that are somatic in nature