产品名称 | Seraseq® FFPE BRCA1/2 LGR Reference Material (SeraCare) |
---|---|
目录号 | 0730-0564 |
别名 | N/A |
外观 | N/A |
分子量 | N/A |
CAS | N/A |
溶解度 | N/A |
存储条件 | N/A |
保存时间 | N/A |
备注1 | N/A |
备注2 | N/A |
目录号 | 规格 | 价格 | 库存状态 | |
0730-0564 | 1 x 10 µm | 咨询客服 | 咨询客服 |
品名:Seraseq® FFPE BRCA1/2 LGR Reference Material
货号:0730-0564
品牌:SeraCare
Product Specifications
FFPE BRCA1/2 LGR
Number of genes:2(BRCA1and BRCA2)
Number of variants:20 pathogenic BRCA1/2 variants(11 LGRs, 9 deletions, 5 SNVs4 indels, and 2 insertions).
Format:FFPE
Size:1 curl of 10 um
DNA Yield*:>100ng
Expected Variant Allele Frequencies(VAF):~15%
List of BRCA Variants:Product Sheet(MKT 00818),The TechnicalProduct Report (TPR) or the TechnicalSpreadsheet
MKT-00821 available in theResource tab.
*From 1x10 um FFPE curl using QIAGEN OAOMp FFPE DNA Tissue Kit/Qubit DNA HS quant
Details
Genetic testing of the tumor suppressor genes BRCA1 and BRCA2 allows for the identification of DNA variants
whichare associated with a significantly elevated lifetime risk of breast, ovarian, pancreatic and prostate cancer.
Large genomic rearrangements (LGRs) include deletions, duplications and/or insertions often involving whole
exons. Usually pathogenic, they have been reported to account for up to 27% of the overall BRCA11 and 5% of
BRCA2 disease-causing mutations2 with a strong founder effect accounting for about 1/3rd of all disease
diagnosis. Accurate detection of a BRCA1 or BRCA2 pathogenic variant has immense impact on clinical
management of disease including patient’s eligibility for new PARP inhibitors. Thus, it is crucial to determine
germline as wellas somatic BRCA1/2 mutations in those patients3 and screening for large genomic
rearrangements in both BRCA1 and BRCA2 is strongly recommended4. However, these LGRs are frequently
missed by PCR-based methods and targeted NGS assays that do not detect partial or complete exon losses
or gains. Given the difficulty in detecting LGRs, there is a need for a comprehensive BRCA1/2 testing algorithm
including reference materials that incorporate pathogenic LGRs to support NGS assays that analyze for these
mutations at both germline and somatic levels.
To help clinical labs performing NGS-based BRCA testing better, develop, characterize, validate, and routinely
assess amplicon and hybrid capture-based targeted NGS assays, LGC Clinical Diagnostics has designed novel
reference materials containing 20 pathogenic variants in a well-characterized genomic background (GM24385)
at clinically relevant allele frequencies, precisely quantitated by digital PCR assays and analyzed by NGS.
These include 10 variants in BRCA1 and 10 variants in BRCA2 ranging in size from SNVs to insertions and/or
deletions over 500 bp (11 exon-level large rearrangements), resulting in a variety of phenotypic alterations at
the amino acid level, including missense, nonsense, frameshift, stop-gain/loss, splice-site, and insertion/
deletion of partial or up to two exons (See Product Sheet).
维百奥生物代理SeraCare对照及参比物质。
维百奥(北京)生物科技有限公司,自2018年与SeraCare(现隶属于LGC Clinical Diagnostics)合作以来,长期为中国客户
提供包括SeraSeq系列参比物质,领域包括肿瘤、生殖健康和遗传病。SeraCare研发和生产一系列临床参比物质,可以用于任何
研发阶段,以确保临床基因组学检测结果的准确性。
SeraCare参比物质涵盖的范围:
1)Next Generation Sequencing
2)Sanger Sequencing
3)Real-time PCR and digital PCR (dPCR)
4)Microarray
主要特点
1)Ready-to-use reference materials covering clinically-relevant variants and all variant types - SNVs, INDELS, CNVs,
and RNA fusions
2)Highly multiplexed - provide significantly more data per NGS run, saving sequencing costs
3)Available in multiple formats to suite different workflow needs - purified DNA & RNA, ctDNA, encapsulated ctDNA
in plasma, and FFPE
4)Manufactured in cGMP-compliant, ISO 13485-certified facilities
5)Stringent product release testing - all variants qualified by dPCR for allele frequencies or copy numbers