INVIEW Liquid Biopsy Oncoprofiling (728 genes )

INVIEW Liquid Biopsy Oncoexome

Reliable detection of cancer-associated mutations in 728 genes from liquid biopsy samples

INVIEW Liquid Biopsy Oncoprofiling (728 genes) offers the most comprehensive cancer gene panel testing of liquid biopsy samples in the world.

The service fully covers the exons of 728 cancer-relevant genomic regions, including protein-coding genes, selected promoter regions. 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.

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Applications

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

Highlights

Screening of ctDNA isolated from blood plasma for 728 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 Details

Reproducible cell-free DNA (cfDNA) 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)
Accurate characterisation of single nucleotide polymorphisms (SNPs) and insertions and deletions (InDels)
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^#
Analysis of copy number variations (CNV)s possible*

*CNV analysis using INVIEW Liquid Biopsy Oncoprofiling (728 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%

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Product Specifications & Ordering

Accepted starting material

Accepted starting material for INVIEW Liquid Biopsy Oncoprofiling (728 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).

Technology

Hybridisation-based target capture using proprietary protocols and latest Agilent SureSelect technology
Next-generation sequencing on Illumina platform

Deliverables

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

Additional Information

INVIEW Liquid Biopsy Oncoprofiling (728 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 728 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.