Circulating Tumor DNA Panel – Colorectal / Lung / Breast
Discover the accelerated NGS with Reliable result for variant with ultra low VAF
Overview
Circulating Tumor DNA Panel for Colorectal / Lung / Breast Cancer
The detection sensitivity for low-frequency variants from sample with limited yield is of great importance to a ctDNA analysis kit.
Celemics has developed NGS ctDNA-based kits for colon, breast, and lung cancer assays through collaborative research with Seoul National University Hospital since 2017. We have integrated our market-leading proprietary technologies including hybridization probe design algorithms, noise removal techniques, and reagent optimization. The panel is thoroughly validated and ready-to-use for clinical diagnostics.
Features & Benefits
Highly Optimized Panel for Clinical Testing with Exceptional Accuracy
This is a complete performance validated panel, conducted with actual clinical patient samples through collaborative research with Seoul National University Hospital. Through the extensive validation studies, Celemics’ ctDNA panel verified assessment of 16 key genes for colorectal cancer, 14 for breast cancer,15 for lung cancer.
| Colorectal Cancer | ||
|---|---|---|
| Sensitivity | Freq. 0.5% | 100% |
| Freq. 1.0% | 100% | |
| Specificity | 97.9% | |
| Breast Cancer | ||
|---|---|---|
| Sensitivity | Freq. 0.5% | 94.4% |
| Freq. 1.0% | 100% | |
| Specificity | 96.3% | |
| Lung Cancer | ||
|---|---|---|
| Sensitivity | Freq. 0.5% | 100% |
| Freq. 1.0% | 100% | |
| Specificity | 100% | |
Robust BI with Unique Molecular Identifiers(UMI) for ultra-low VAF detection
Receive high-quality data supported by Celemics proprietary
UMI algorithms and Bioinformatics software, enabling effective detection of ultra-low VAF by efficiently removing duplicates and generating consensus read, which will result in increased sequencing efficiency
Along with exclusive barcodes, Celemics also provides
our own-designed modular software allows seamless integration of Bioinformatics solution, from FASTQ to clinical report.
Proven variant detection performance even with low-yield challenging clinical sample
Detection sensitivity and specificity of ctDNA panels have been tested and verified with various actual clinical specimen.
Even with the template DNA amount as low as 10 ng, the panel demonstrated market-leading performance with superior sensitivity and specificity and these panels been supported by numerous peer review publications.
Exclusive Bioinformatics algorithms for accurate analysis
Celemics applies algorithms for eliminating the sequencing error and reducing noise to increase the detection sensitivity and specificity. By applying these exclusive pipeline features, we can provide accurate and reliable sequencing results to our customers.
We continuously monitor and improve of the noise removal technology by data accumulation
Workflow
Simple workflow of circulating tumor DNA panel
- Able to assess ctDNA with ultra-low variant allele frequency (VAF)
- Simple workflow and easy-to-follow protocol
- Modular algorithm to be applied in the existing pipeline.
- Retrieves more unique reads than that from conventional duplication removal algorithms, reducing sequencing costs
- Noise removal and accurate calls due to proprietary consensus sequence generation algorithm
Bioinformatics SW for Noise Reduction and Duplicate Read Recovery
- Minimizes the noise for accurate analysis of variants with ultra-low VAF from ctDNA
- Generates consensus read to support noise suppression
- Continuous improvement of the noise removal technology by data accumulation
Specification
| Colorectal Cancer | Breast Cancer | Lung Cancer | |
|---|---|---|---|
| Gene count* | 16 genes | 27 genes | 28 genes |
| Covered region | Whole CDS | ||
| Target size | 18 kb | 99 kb | 47 kb |
| Mutation type | SNV, Indel | ||
| Sample type (amount) | Plasma (>20 ng of cfDNA) | ||
| Platform | All sequencers from illumina and MGI | ||
| Bioinformatics pipeline |
1. Primary and Secondary analysis result (FASTQ to VCF) 2. Secondary Analysis: CNV, Large InDel 3. Tertiary Analysis: Clinical interpretation * Linux-based consensus read generation software |
||
Specification - Gene List
- 16 genes | Gene count
- 18 kb | Target Size
- Whole CDS | Target Region
| ctDNA Colorectal Cancer Panel | APC | BRAF | EGFR | ERBB2 | ERBB3 | FGFR1 | HRAS | IRS1 |
|---|---|---|---|---|---|---|---|---|
| KRAS | MAP2K1 | MET | NRAS | PDGFRB | PIK3CA | PTEN | TP53 |
- 27 genes | Gene count
- 99 kb | Target Size
- Whole CDS | Target Region
| ctDNA Breast Cancer Panel |
AKT1 | APC | AR | BRCA1 | BRCA2 | CCND1 | CDH1 | EGFR |
|---|---|---|---|---|---|---|---|---|
| ERBB2 | ESR1 | FGFR1 | FGFR2 | GATA3 | IGF1R | KIT | KRAS | |
| MAP2K4 | MAP3K1 | MDM2 | MYC | NF1 | PIK3CA | PIK3R1 | PTEN | |
| RB1 | TOP2A | TP53 |
- 28 genes | Gene count
- 47 kb | Target Size
- Whole CDS, 3 Intronic regions | Target Region
| ctDNA Lung Cancer Panel |
AKT1 | ALK | ARAF | ARID1A | BRAF | CBL | CDKN2A | EGFR |
|---|---|---|---|---|---|---|---|---|
| ERBB2 | HRAS | KEAP1 | KRAS | MAP2K1 | MET | MTOR | NF1 | |
| NRAS | NTRK1 | NTRK2 | PIK3CA | PTEN | RB1 | RIT1 | ROS1 | |
| SETD2 | STK11 | TP53 | U2AF1 |
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Resources
Technical Resources
Safety Data Sheets
References
Epigenomics
Identification of tissue of origin in cancer of unknown primary using a targeted bisulfite sequencing panel
Bae JM, Ahn JY, Lee H, Jang H, Han H, Jeong J, et al. Identification of tissue of origin in cancer of unknown primary using a targeted bisulfite sequencing panel. Epigenomics. 2022 May;14(10):615–28.
10.2217/epi-2021-0477
Investig Clin Urol
Germline pathogenic variants in unselected Korean men with prostate cancer
So MK, Ahn HK, Huh J, Kim KH. Germline pathogenic variants in unselected Korean men with prostate cancer. Investig Clin Urol. 2022 May;63(3):294–300.
DOI 10.4111/icu.20220044
Scientific Reports
Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers
Lee J, Ham JY, Park HY, Jung JH, Kim WW, Kang B, et al. Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers. Sci Rep. 2022 Feb 3;12(1):1842.
DOI 10.1038/s41598-022-05931-3
BMC Medical Genomics
A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report
Shin WY, Yoon SY, Park R, Kim JA, Song HH, Bang HI, et al. A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report. BMC Med Genomics. 2022 Mar 4;15(1):46.
DOI 10.1186/s12920-022-01191-2