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.

BRCA 1/2 image
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

Comparison data with competitors' products - Coverage

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

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

Newly Developed Same-Day Workflow

Same-day
workflow
» 5-8 hours

Library Prep

Target Capture

Other Features

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Applicable to Variety of Sample Types

Superior panel performance regardless of specimen types, even such as FFPE, ctDNA or other low-quality clinical specimen

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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)

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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 Add-On Service: Genes can be added by customer’s request.
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

[Product Overview] BRCA 1,2 Panel

[Product Overview] Celemics Target Enrichment Panel Overview

[Catalogue] Celemics Products & Service Catalogue_All Products & Service

Safety Data Sheets

MSDS_BRCA 1/2 Panel_Illumina_Enzymeplus

MSDS_BRCA 1/2 Panel_Illumina

MSDS_BRCA 1/2 Panel_Thermo Fisher

MSDS_BRCA 1/2 Panel_MGI_EnzymePlus

MSDS_BRCA 1/2 Panel_MGI

References

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


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Scientific Reports

Human epidermal growth factor receptor-2 expression and subsequent dynamic changes in patients with ovarian cancer

Kim Y-N, Chung YS, Park E, Lee ST, Lee J-Y. Human epidermal growth factor receptor-2 expression and subsequent dynamic changes in patients with ovarian cancer. Sci Rep. 2024;14(1).

 

10.1038/s41598-024-57515-y


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Translational Lung Cancer Research

Predicting disease recurrence in limited disease small cell lung cancer using cell-free DNA-based mutation and fragmentome analyses

Park S, Kang J-K, Lee N, Lee S-H, Kim H-P, Kim SY, et al. Predicting disease recurrence in limited disease small cell lung cancer using cell-free DNA-based mutation and fragmentome analyses. Transl Lung Cancer Res. 2024;13(2):280–91.

 

10.21037/tlcr-23-479


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Turk J Gastroenterol

Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome

Aslan PG, Çağlayan AO, Bora E, Koç A, Yucel H, Ülgenalp A, et al. Clinical and molecular analysis in patients with peutz-jeghers syndrome. Gastrointestinal Endoscopy. 2024

 

10.5152/tjg.2024.23262


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