Color uses Next Generation Sequencing (NGS) technology. NGS libraries compatible with the Illumina platform are enriched for the targeted genes via a custom Agilent SureSelect bait library, a commonly used platform for clinical targeted sequencing.
The test detects DNA substitutions, small insertions and deletions, and copy number variations located in the coding sequences, nearby flanking regions (+/- 20bp) and known splice regions of the targeted genes on the Color panel.
All clinically actionable variants (i.e. likely pathogenic and pathogenic) as well as all reported copy number variations, insertions and inversions are confirmed using an alternative technology.