Overview
Celemics’ Oncorisk Sequencing Service is specifically designed to
analyze hereditary cancer associated genes.
compared to whole-genome sequencing or whole-exome sequencing. In addition, if the gene of interest does not exist in the panel, it can be added separately
through our gene add-on service. This flexible panel design provides cost-effective sequencing results to every customers.
Features &
Benefits
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- Comprehensive analysis of oncogenes
- Analyze 31 oncogenes associated with inherited cancer and precisely selected
from Contract Research Organizations and numerous research studies
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- Robust BI system for large deletion analysis
- Receive BI results for large deletion analysis provided by Celemics
proprietary BI analysis system
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- Used for Homologous Recombination Deficiency (HRD) testing
- Provides information for HRD grade computation to aid precision
medicine for tumor treatment
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- Market leading performance with sensitivity and specificity
- Detect all types of mutations with over 95% of sensitivity at 5% VAF
- 99.9% and 99.5% of specificity for SNV and Indel, respectively
Performance
User-Friendly BI analysis report in both variants and CNV Example of variants and CNV analysis results
| Gene | Mutation Type | Amino Acid Change | Total Depth | REF Depth | ALT Depth | Variant Allele Frequency |
|---|---|---|---|---|---|---|
| APC | SYN | p.S1738S | 1008 | 590 | 415 | 41.17% |
| ATM | Non-SYN | p.D1853N | 417 | 200 | 217 | 52.04% |
| BARD1 | Non-SYN | p.R658C | 829 | 435 | 394 | 47.53% |
| BMPR1A | Non-SYN | p.P2T | 621 | 309 | 311 | 50.08% |
| BRCA1 | SYN | p.S1389S | 802 | 460 | 342 | 42.64% |
| BRCA2 | SYN | p.V2171V | 1026 | 0 | 1026 | 100% |
| BRIP1 | SYN | p.Y1137Y | 844 | 3 | 840 | 99.53% |
| PMS2 | Non-SYN | K541E | 686 | 0 | 646 | 100% |
| PRSS1 | SYN | p.N246N | 921 | 0 | 921 | 100% |
| PRSS1 | Non-SYN | p.R53Q | 971 | 0 | 971 | 100% |
The example of variant analysis results including AA change, mutation type, total sequencing depth, Allele frequency etc.
- The example of CNV analysis result (CDKN2A gene) among target regions
- Higher sequencing depths in the target regions, enabling accurate CNV analysis
Various target genes to comprehensive cancer research
| OncoRisk Panel |
APC | ATM | BARD1 | BLM | BMPR1A | BRCA1 | BRCA2 | BRIP1 | CDH1 | CDK4 | CDKN2A | CHEK2 | EPCAM |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MLH1 | MRE11A | MSH2 | MSH6 | MUTYH | NBN | PALB2 | PMS2 | PRSS1 | PTEN | RAD50 | RAD51C | RAD51D | |
| SLX4 | SMAD4 | STK11 | TP53 | VHL |
Applications
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Germline-related cancer research