BRCA 1/2
The Most Comprehensive BRCA Coverage with All Types of Variants
Overview
Don't Miss a Single Mutation with Celemics BRCA 1, 2 Panel
Celemics’ BRCA 1,2 target enrichment panel is designed to enrich whole coding sequences (CDS) with about 40 bases before and after the whole CDS region of the BRCA1 and BRCA2 genes, and also include UTR, promoter regions to detect the variants in the splicing site. Using Celemics‘ BRCA 1,2 panel customers can obtain information on all types of variants including large indel and CNV.
High performance of the hybridization probes guarantees reliable and consistent sequencing results to customers even if using DNA from low-quality clinical samples or FFPE. Additionally, Celemics provides clinical-grade reports from our proprietary bioinformatics pipeline and in conjunction with Strand Life Sciences.
Features & Benefits
The Most Comprehensive Coverage of BRCA 1, 2
Celemics’ BRCA 1,2 NGS target enrichment panel is designed to enrich whole coding sequences (CDS) of the BRCA1 and BRCA2 genes including UTR, promoter, and +/- 40 bases of CDS to detect the variants in the splicing site. With the most comprehensive target region, Celemics BRCA 1, 2 panel shows actual 100% coverage of protein coding regions of BRCA 1, 2 with market-leading uniformity.
Comparison data with competitors' products
- The extremely low standard deviation of uniformity enables consistent and reliable sequencing results
- In-house test of the panel shows 100% of coverage for all target regions including whole CDS (+/- 40 bp), UTR, and promoter region
Uniformity
Coverage
Unlock the Full Potential of BRCA Testing by Analyzing All Types of Variants
Our panel offers comprehensive analysis of SNV, short InDel, deletion, duplication, and large rearrangement variants,
providing researchers and clinicians with the most complete picture of BRCA status. Our proprietary probe design technology, with spiking-in probes between exons, ensures accurate analysis of CNVs and improves NGS data processing. Plus, our unique probe design and reagent optimization know-how result in the best-in-class uniformity across all target regions, increasing the accuracy and reliability of the test
- The extremely low standard deviation of uniformity enables consistent and reliable sequencing results
- In-house testing of the panel indicated 100% coverage for all target regions including whole CDS (±40 bp), UTR, and promoter region
Example of variants data and result of CNV analysis
NM_007297
Simple and Fast Workflow;
One-day NGS Library Protocol
Celemics provides simple and fast workflow for hybridization-based target enrichment method without the need for heavy instruments, such as tapestation or sonicator.
Incorporating enzymatic library preparation methodology with fast hybridization of multiplexed libraries enables NGS ready library in a single day.
Workflow of our panel offers comprehensive analysis of SNV, short InDel, deletion, duplication, and large rearrangement variants with much simplified workflow yet with outstanding capture performance.
Newly Developed Same-Day Workflow
The figure demonstrates that Celemics has significantly reduced the time for performing Whole Exome Sequencing from the conventional 20 hours to 5 hour minimum workflow.
Newly Developed Same-Day Workflow
The figure demonstrates that Celemics has significantly reduced the time for performing Whole Exome Sequencing from the conventional 20 hours to 5 hour minimum workflow.
Conventional
workflow
» 20 hours
Library Prep
Target Capture
Same-day
workflow
» 5-8 hours
Library Prep
Target Capture
Other Features
Applicable to Variety of Sample Types
Superior panel performance regardless of specimen types, even such as FFPE, ctDNA or other low-quality clinical specimen
CE-IVD Certified Target Enrichment Panel
Clinical grade performance with greater than 95% sensitivity and 99.5% specificity for all types of mutations (SNV, Indel,and more)
Provision of Bioinformatics SW
Provide full Bioinformatics support, from FASTQ to annotated VCF; clinical report service also available. Complies to EU-GDPR through usage of Europe-based server
Specification
| Gene count* | BRCA 1/2 genes |
|---|---|
| Covered region | Whole CDS (+/- 40 bp), UTR, Promoter |
| Target size | 23 kb |
| Mutation type | SNV, Indel, CNV |
| Sample type(amount) | Blood (> 50 ng of fragmented DNA), FFPE |
| Platform | All sequencers from Illumina, Thermo Fisher, MGI, PacBio, and Oxford Nanopore |
| Sensitivity | > 95% for all variant types at 5% VAF |
| Specificity | 99.9%(SNV), 99.5%(Indel) |
| Bioinformatics Support | ① Primary Analysis: FASTQ to annotated VCF ② Secondary Analysis: CNV, Large InDel ③ Tertiary Analysis: Clinical interpretation |
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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