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
If you require the latest MSDS file, please contact us via ‘Contact Us‘.
MSDS_BRCA 1/2 Panel_Illumina
MSDS_BRCA 1/2 Panel_Thermo Fisher
MSDS_BRCA 1/2 Panel_MGI
References
Cancer Research and Treatment
Varlitinib and Paclitaxel for EGFR/HER2 Co-Expressing Advanced Gastric Cancer: A Multicenter Phase Ib/II Study (K-MASTER-13)
Koo DH, Jung M, Kim YH, Jeung HC, Zang DY, Bae WK, Kim H, Kim HS, Lee CK, Kwon WS, Chung HC. Varlitinib and Paclitaxel for EGFR/HER2 Co-Expressing Advanced Gastric Cancer: a Multicenter Phase Ib/II Study (K-MASTER-13). Cancer Research and Treatment. 2024 Apr 29.
10.4143/crt.2023.1324
Summary | celemics publications
#Oncology
#ctDNA Sample
# AlphaLiquid® 100 Panel
Purpose
Varlitinib is a pan-human epidermal growth factor receptor (HER) inhibitor targeting epidermal growth factor receptor (EGFR), HER2, and HER4. We present a phase Ib/II study of a combination of varlitinib and weekly paclitaxel as a second-line treatment for patients with EGFR/HER2 co-expressing advanced gastric cancer (AGC).
Result
Genomic alteration landscape in circulating tumor DNA analysis according to the progression-free survival (PFS), overall survival (OS), and EGFR/HER2 immunohistochemical expression (n=15).
Conclusion
A combination of varlitinib and paclitaxel displayed manageable toxicity and modest antitumor activity in patients with EGFR/HER2 co-expressing AGC who progressed after first-line chemotherapy.
Method
The circulating tumor DNA (ctDNA) was extracted from the patient’s plasma (10 mL) at two time points (before treatment and at the first response evaluation or end of the treatment). The DNA NGS library and solution-based target enrichment were performed at IMBdx, Inc. (Seoul, Korea), using AlphaLiquid100. The captured DNA libraries were sequenced using the Illumina NovaSeq 6000 platform (Illumina, San Diego, CA) in the 2×150 bp paired-end mode.
Related Product
Circulating Tumor DNA Panel for
Colorectal / Lung / Breast Cancer
The circulating tumor DNA (ctDNA) was extracted from the patient’s plasma (10 mL) at two time points (before treatment and at the first response evaluation or end of the treatment). The DNA NGS library and solution-based target enrichment were performed at IMBdx, Inc. (Seoul, Korea), using AlphaLiquid100. The captured DNA libraries were sequenced using the Illumina NovaSeq 6000 platform (Illumina, San Diego, CA) in the 2×150 bp paired-end mode.
| 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% | |
Cancers
Discovery and Validation of Survival-Specific Genes in Papillary Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel
Hwang J, Bang S, Choi MH, Hong SH, Kim SW, Lee HE, Yang JH, Park US, Choi YJ. Discovery and Validation of Survival-Specific Genes in Papillary Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel. Cancers. 2024 Jan;16(11):2006.
10.3390/cancers16112006
Frontiers in Neurology
Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia
Ammous-Boukhris N, Abdelmaksoud-Dammak R, Ben Ayed-Guerfali D, Guidara S, Jallouli O, Kamoun H, Charfi Triki C, Mokdad-Gargouri R. Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia. Frontiers in Neurology. 2024 May 31;15:1344018.
10.3389/fneur.2024.1344018
Scientific Reports
Sex-specific survival gene mutations are discovered as clinical predictors of clear cell renal cell carcinoma
Hwang J, Lee HE, Han JS, Choi MH, Hong SH, Kim SW, Yang JH, Park U, Jung ES, Choi YJ. Sex-specific survival gene mutations are discovered as clinical predictors of clear cell renal cell carcinoma. Scientific Reports. 2024 Jul 9;14(1):15800.
10.1038/s41598-024-66525-9