The clinical Exome Sequencing (CES) Expanded Panel has overcome the limitations of analysing clinical diseases with whole exome sequencing. By selectively targeting the clinically significant genes, the panel enables comprehensive analysis with the most effective sequencing throughput.
A comprehensive NGS panel that enables the screening of the Clinical human exome corresponding to 7513 clinically relevant genes (coding regions of the genome) of diseases associated with genetic mutations as well as mitochondrial genome. This panel supports the identification of all major clinically actionable SNVs, Indels and CNVs across the 7513 genes covering the CDS, hotspots and mitochondrial genome as well as adding up to a target size of 19.5Mb for sequencing. Assay is effectively able to run with ≥ 50 ng of Blood sample isolated DNA.