Reliable detection of cancer-associated mutations in 591 genes from liquid biopsy samples
INVIEW Liquid Biopsy Oncoprofiling (591 genes) offers the most comprehensive cancer gene panel testing of liquid biopsy samples in the world.
The service fully covers the exons of about 600 cancer-relevant genomic regions, including protein-coding genes, selected promoter regions and fusion gene events. The service is the first of its kind to enable the detection of structural variants, including copy number variations and fusion events from circulating tumour DNA (ctDNA). The broad coverage of oncogenic alterations enables the non-invasive investigation for nearly any kind of tumour type.
Typical applications for INVIEW Liquid Biopsy Oncoprofiling (591 genes) include
- Non-invasive screening for clinically relevant tumour-associated mutations
- Comparison of matched samples from tumour biopsies and liquid biopsies
- Research on mechanisms of cancer progression
- Selection of the most-relevant mutation for follow-up studies with INVIEW Oncotarget
Highlights INVIEW Liquid Biopsy Oncoprofiling (591 genes)
- Screening of ctDNA isolated from blood plasma for 591 key cancer-associated genes
- Efficient capture of all exons of the targeted genes
- Analysis of structural and copy number variants (see “Product Details”)
- Industry leading sequence coverage and uniformity
- Limit of quantification (LOQ) down to an allele frequency of 1%#
Full service package offered by INVIEW Liquid Biopsy Oncoprofiling (591 genes) including
- Reproducible cell-free DNA (cfDNA) analysis of key tumour-associated mutations in 591 protein-coding genes, selected promoter regions, miRNAs, and 285 extra-exonic variants (introns, regulatory regions, untranslated regions (UTRs) and intergenic regions)
- Accurate characterisation of single nucleotide polymorphisms (SNPs) and insertions and deletions (InDels)
- Reliable detection of gene fusions between the covered genes plus 22 additional cancer-specific gene fusions
- Proprietary protocols for cfDNA extraction and library preparation from plasma samples
- Superior target enrichment efficiency using optimised hybridisation techniques with latest Agilent SureSelect chemistry
- Highly sensitive assay with a lower detection limit down to 1% tumor allele frequency#
- Professional bioinformatical analysis complemented with QIAGEN’s QCI Interpret Translational platform
- Analysis of copy number variations (CNV)s possible*
*CNV analysis using INVIEW Liquid Biopsy Oncoprofiling (591 genes) has to be performed with the appropriate control group. Please send us plasma samples from at least seven other patients/individuals in order to correctly identify somatic CNVs in a given sample.
#Depending on the input DNA quality and genomic region LOD might be >1%
Accepted starting material for INVIEW Liquid Biopsy Oncoprofiling (591 genes)
- 10 ml blood
- 4 ml plasma*
- 15 ng already isolated cell-free DNA (up to 30 µl / concentration > 0,5 ng/µl)
* If possible, please provide an additional aliquot. Prepare plasma according to provided protocol (See Files). Ship plasma on dry ice. Thawing of the plasma will lead to degradation of the cell-free DNA (cfDNA).
- Hybridisation-based target capture using proprietary protocols and latest Agilent SureSelect technology
- Next-generation sequencing on Illumina platform
- FastQ Files (sequences and quality scores)
- Alignment file (bam)
- SNP and InDel tables including annotated variants and effects (vcf, tsv)
- Tables of copy gain and copy loss events (tsv)
- Table of gene fusion events (tsv)
- Comprehensive Data Analysis Report (pdf)
The product is available for research use only (RUO).
INVIEW Liquid Biopsy Oncoprofiling (591 genes) offers the most in-depth approach for tumour mutation profiling from plasma cell-free (cfDNA) via a targeted cancer gene panel. As a powerful non-invasive tool, this tumour panel enables monitoring of cancer specific mutations with high fidelity and sensitivity. The analysed material, ctDNA, is described as a specific and sensitive biomarker in multiple human cancers, which allows for comprehensive molecular profiling of the tumour. This cancer panel enables the detection of about 600 clinically actionable genomic regions, including frequently mutated genes, such as BRAF, KRAS, EGFR, PIK3CA, HER2 and TP53. The scope of this mutation panel makes the product perfectly suitable for the investigation of nearly any type of cancer, including melanoma, bladder cancer, ovarian cancer, breast cancer, colorectal cancer, prostate cancer, thyroid cancer, kidney cancer, liver cancer and lung cancer.