Hereditary Cancer Panel
A research-focused testing service targeting 129 genes associated with a predisposition for hereditary cancer in a single test
The NGS panel has been specifically designed to identify key hereditary cancer copy number variations (CNVs), such as single exon BRCA1 and BRCA2 alterations and those associated with Lynch syndrome.
It also includes genes associated with uterine, prostate and gastrointestinal cancers as well as rarer hereditary cancers, such as Phaeochromocytoma and paediatric cancers like Wilms tumour, to enable comprehensive hereditary testing.
We are a UKAS accredited, ISO15189 approved, company with our laboratories based in Birmingham, UK, focused on providing a premium genomics service, with competitive turn around times.
Hereditary Cancer Detection for Research
|Type of test||
DNA genetic test – panel of 129 genes associated with an increased risk of developing hereditary cancer
|Flexibility||Full service flexibility – contact us to find the best solution for you|
Secure cloud-based data transfer:
|Ordering information||Contact via the Informed Genomics contact form|
|Quality assurance||UKAS accredited, and ISO15189 approved laboratories|
How can Informed Genomics help your research into hereditary cancers?
We support research in this area by providing an accessible, accurate, flexible hereditary pan-cancer testing service with the following benefits:
Range of sample input options, including non-invasive saliva collection, enabling ease of patient participation into your studies
Streamlined workflow – validate and run one workflow for all hereditary cancers regardless of cancer type and sample input amount or type
Increase in diagnostic yield from a single test for individuals:
- with a personal, or family, history of mixed cancers affecting multiple organ systems
- or those with an unknown family history
Call SNVs, indels and CNVs with high recall and precision
Full flexibility to suit your research requirements – send us the blood/plasma/saliva sample, or extract the gDNA/cfDNA in your laboratory
Bioinformatics support available
Lower sequencing costs
- 98% of targets are detected with only >30× coverage (78.1 Mb required for mean 100× coverage) due to efficient hybridisation and capture technology. This means we can sequence 50% more samples per flow cell, or generate more sequencing data per sample, than leading competitors pan-cancer NGS panels.2
Comprehensive gene panel information
The Cell3™ Target Hereditary Cancer Panel is a hybridisation and capture NGS panel designed to target germline mutations in 129 genes associated with an increased risk of developing hereditary cancer.
The hereditary cancer panel showed excellent recall for SNVs (Figure 1), and indels (Figure 2), with both higher than either of the competitors’ products.2
Figure 1: Cell3™ Target Hereditary Cancer Panel delivers a mean SNV recall of 99.78% across four replicates outperforming Company I and Company P.
Figure 2: The Nonacus Hereditary Cancer Panel delivers the highest average indel recall outperforming Company I and Company P.
CNV sensitivity validation
Table 1: shows the precision and recall for a range of CNVs in the MLH1/MSH2 Exon Copy Number Reference Panel (NIBSC) detected with the Cell3™ Target Hereditary Cancer panel, and Nonacus analysis pipeline. All CNVs were detected with 100% recall and precision.
|CNV||Genotypic Sex||CNV Type||Detected||Recall||Position|
|Copy normal||male||copy neutral||YES||100%||100%|
|MSH2 deletion exons 1-6, heterozygous||male||multi-exon deletion||YES||100%||100%|
|MSH2 deletion exon 7, heterozygous||male||single exon deletion||YES||100%||100%|
|MSH2 deletion exons 1-2, heterozygous||female||multi-exon deletion||YES||100%||100%|
|MSH2 deletion exon 1, heterozygous||male||single exon deletion||YES||100%||100%|
|MLH1 exon 13 amplification (3 or more copies)||female||multi-exon deletion||YES||100%||100%|
1. Ngeow J, Eng C. Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet. NPJ genomic medicine. 2016 Jan 13;1(1):1-3.
2. Nonacus. Nonacus Cell3 Target Hereditary Cancer Panel Datasheet_v1 https://nonacus.com/download/cell3-target-hereditary-cancer-panel-datasheet-v1/Published 2022. Accessed September 18, 2023.