- Validated next-generation sequencing (NGS) cancer gene panel for analysis of key tumour-associated mutations in 728 protein-coding genes, selected promoter regions, miRNAs, and 282 extra-exonic variants (introns, regulatory regions, untranslated regions (UTRs) and intergenic regions)
- Reproducible detection of single nucleotide polymorphisms (SNPs), insertions and deletions (InDels)
- Determination of tumour mutational burden (TMB) based on all coding synonymous and non-synonymous eligible somatic mutations with in silico filtering of known and predicted germline variants
- Highly efficient target enrichment with latest Agilent SureSelect technology
- Target enrichment approach outcompetes common PCR-based enrichment with very uniform coverage and all exons of the genes covered
- Industry-leading sequence coverage and uniformity
- Detection of variants with sensitivity levels down to 1%#
- Optimised protocols for low-input DNA library preparation from FFPE or fresh-frozen tissue samples
- Analysis of copy number variations (CNVs) possible*
*CNV analysis should be performed in paired analysis of tumour versus matched normal tissue which is used as reference. In the case of tumour FFPE samples, we strongly recommend sending a healthy tissue FFPE sample from the same patient. Alternatively, tumour FFPE samples from at least seven other patients can be sent.
#Depending on the input DNA quality and genomic region LOD might be >1%
For fresh frozen tissue, we strongly advise that blood or healthy tissue from the same patient is sent. Alternatively, fresh frozen tissue from at least seven other patients or controls is recommended.