Comprehensive profile of all mutations present in the exome
GATCLiquid Oncoexome is the first non-invasive service to provide researchers and clinicians an overview of all protein- coding regions in the genome of a suspected cancer patient.
The cancer exome sequencing tool offers the opportunity to discover novel variants, recurrent or frequent somatic mutations in circulating tumor DNA (ctDNA) in cases where limited information on tumor-associated genome instability exists.
Applications
- Tumour exome analysis of plasma ctDNA from a non-invasive blood test, where tissue biopsy is not feasible or recommended
- Examination of all mutations in the coding regions of a suspected cancer patient
- Cancer profiling in cases where limited information on tumor-associated mutations is available
- Discovery of structural variants, novel and common genomic alterations
- Comparison of exomes from tissue biopsy and liquid biopsy samples
- Selection of mutations for further analysis
Highlights of GATCLiquid Oncoexome
- Analysis of novel and known tumor mutations in ctDNA based on next-generation sequencing (NGS)
- Optimized protocols for low-input ctDNA extraction from plasma
- Proprietary workflows for obtaining libraries of high complexity
- Expert data processing with QIAGEN Ingenuity Variant Analysis
For an individual quote or additional information, contact us.
Full-service package offered by GATCLiquid Oncoexome includes the following:
- Cancer exome sequencing of circulating tumour DNA (ctDNA)
- Optimised protocols for library preparation with low duplicate rates
- Exome enrichment of more than 23,000 genes with the Agilent SureSelect V6 platform
- Mutation detection with sensitivity as low as 5% depending on gene loci
- NGS data analysis performed with industry-leading QIAGEN Ingenuity Variant Analysis application
- Entire process carried out according to ISO 17025
Accepted starting material
- 4 mL plasma sample
- 15 ng already isolated cell-free DNA (up to 30 µl / concentration > 0,5 ng/µl)
Specifications
Sequencing technology
- Illumina 150 bp paired-end sequencing
Bioinformatics analysis
- Faster identification of relevant variants based on curated biological content from the Ingenuity Knowledge Base
- Prioritisation of most promising variants for further analysis
Deliverables
- Alignment file (bam)
- SNP and InDel tables including annotated variants and effects (vcf, tsv, bed)
- Comprehensive Data Analysis Report (pdf)
For an individual quote or additional information, contact us.
Additional Information
Our one-stop Diagnostic Solution for tumor exome sequencing of ctDNA isolated from liquid biopsies offers clinicians and researchers stringent quality assurance throughout the entire process. The product includes a range of pre-sequencing services, starting from ctDNA isolation from low-input samples, to library preparation with reduced duplicate rates, as well as superior exon enrichment and uniform coverage with Agilent’s SureSelect latest chemistry.
The next-generation sequencing is carried out under diagnostic conditions and the bioinformatics analysis is performed with the industry’s leading tool, QIAGEN Ingenuity Variant Analysis.
For an individual quote or additional information, contact us.