LGC Clinical Genomics launches industry-first Seraseq® BRCA1/2 Large Genomic Rearrangements Reference Materials
Gaithersburg, Maryland, USA – 1 March, 2023 – LGC Clinical Diagnostics, announces the release of its Seraseq® BRCA1/2 Large Genomic Rearrangements Reference Materials, designed to meet the needs of clinical laboratories testing for BRCA1/2 gene variants at both somatic and germline levels.
Genetic testing of the tumor suppressor genes BRCA1 and BRCA2 allows for identifying DNA variants associated with a significantly elevated lifetime risk of breast, ovarian, pancreatic, and prostate cancers. Large genomic rearrangements (LGRs), which include deletions, duplications and insertions often involving whole exons, account for up to 27% of BRCA1[1] and 5% of BRCA2[2] disease-causing mutations for populations with a strong founder effect[3]. Usually pathogenic, LGRs are challenging to detect and frequently missed by PCR-based and targeted NGS assays that do not detect partial or complete exon losses or gains[4]. However, accurate detection of BRCA1 or BRCA2 pathogenic variants is immensely important in the clinical management of disease, especially for patients’ eligibility to receive PARP inhibitor treatments.
To help clinical laboratories develop, characterize, validate, and routinely assess NGS assays, LGC Clinical Diagnostics created novel reference materials containing 20 pathogenic BRCA1 and BRCA2 variants, including 11 exon-level large rearrangements, with 10 variants in BRCA1 and 10 variants in BRCA2. Variants range in size from SNVs to insertions and/or deletions over 500 bp, and cover missense, nonsense, frameshift, stop-gain/loss, splice-site, and insertion/deletion of partial or up to two exons, resulting in a variety of alterations at the amino acid level.
These products, developed using LGC Clinical Diagnostics well-established, innovative technology and expertise, blend BRCA variants in the well-characterized GM24385 genomic background at clinically relevant allele frequencies which have been precisely quantitated by digital PCR and further analyzed by NGS. They are available in either FFPE (for somatic testing) or purified gDNA (for germline or somatic testing) formats.
|
Product |
Material |
Format & Conc. |
Fill Volume |
Total Mass |
VAF |
|
Seraseq FFPE BRCA1/2 LGR Reference Material |
0730-0564 |
1 FFPE curl/vial |
10 μm |
>100 ng |
~15% |
|
Seraseq gDNA BRCA1/2 LGR Somatic Mutation Mix |
0730-0567 |
15 ng/μL |
25 μL |
375 ng |
~10% |
|
Seraseq gDNA BRCA1/2 LGR Inherited Mutation Mix |
0730-0568 |
15 ng/μL |
25 μL |
375 ng |
~50% |
For more information, please visit the SeraCare website or contact:
Melissa Berenger
Product Manager, LGC Clinical Diagnostics
Media Contact:
Len Lloyd
Director of Marketing LGC Clinical Diagnostics
About LGC Clinical Diagnostics
LGC Clinical Diagnostics, part of the LGC Group, has more than 30 years of experience as a leading and trusted global IVD quality manufacturer, with particular expertise in quality measurement tools (QMT) and reagents. Focused on five key areas – clinical biochemistry and immunoassay, serology, molecular diagnostics, clinical genomics, and reagents – it has around 450 employees across its three FDA-registered and ISO 13485-certified facilities in the USA, England and Ireland, and an ISO 9001-certified facility in England.
LGC Clinical Diagnostics partners with IVD and biopharmaceutical developers, CROs and academic institutions covering the entire diagnostic pipeline, from concept and early-stage research to accelerated product development and, ultimately, routine clinical use. It develops and manufactures a comprehensive portfolio of premium catalogue and custom-developed diagnostic quality solutions and component materials for the IVD and extended life sciences industry through its four brands, Maine Standards Company, SeraCare, The Native Antigen Company and Technopath Clinical Diagnostics. Together, they serve 7,500+ customers in over 120 countries, providing products for more than 20 clinical application areas, including infectious diseases, NIPT, diabetes, cardiac disease and oncology.
lgcclinicaldiagnostics.com
About SeraCare – seracare.com
SeraCare, founded in 1984, is a leading partner to global in vitro diagnostics manufacturers and clinical laboratories. Part of LGC since 2018, it manufactures and supplies quality control materials for infectious disease testing through its ACCURUN® reagents, as well the Seraseq® range of products for the clinical next generation sequencing market in the fields of oncology, NIPT and inherited disease testing. A broad selection of highly multiplexed, patient-like reference materials with clinically-relevant DNA and RNA variants is available, manufactured in cGMP-compliant, ISO 13485-certified facilities.