Focused exome sequencing is a targeted technology which allows the analysis of all the genes that have disease association. The Focused exome also has a baited backbone to detect genomic deletions and duplications. Exon-level copy number variant (CNV) calling with reliable detection of CNVs >3 exons as well as the use of custom breakpoint capture baits to ensure inclusion of additional common deletion events is also available. It also includes coverage of curated deep intronic and promoter pathogenic variants, and breakpoint baits spanning common deletion events (eg Krabbe disease 30kb deletion).
PerkinElmer Genomics’ Focused Exome Sequencing comes with the following features:
- 98% of the Exome covered at > 20x coverage
- Average read depth of 100X
- Enhanced coverage of known disease associated genes and regions (covers ~5300 genes)
- Exon-level deletion duplication coverage included on all tests Reliable detection of CNVs >3 exons in size. Single exon CNVs can also be predicted, but follow-up confirmation is strongly recommended for any events reported less than 3 exons.
- Unique and Flexible Test Menu: Choose the options that make sense for your patients
- Multiple Sample Types: Acceptance of multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.
- Increased Accessibility to Testing: PerkinElmer’s position as an industry leader in Next-Generation Sequencing (NGS) testing solutions allow us to introduce unmatched automation and efficiencies in our clinical laboratory, and we are happy to pass on those cost savings to our patients in the form of industry-leading pricing for Focused Exome Sequencing.