Seraseq® Inherited Cancer DNA Mix v2

The Seraseq Inherited Cancer DNA Mix v2 is a reference material intended for use in the development, validation, and evaluation of routine performance of Next Generation Sequencing (NGS) (and other amplified nucleic acid-based methods) that identify inherited (germline) variants in genes associated with hereditary cancer such as BRCA1, BRCA2, MHS2 and many others. 

This high-quality reference material is a mixture of synthetic DNA constructs and genomic DNA extracted from the human cell line GM24385, formulated to simulate a heterozygous state for each mutation at a 50% variant allele frequency. It contains an unprecedented 61 synthetic mutations in 55 cancer-predisposing genes allowing laboratories to address assay challenges with a diverse array of mutations, including complex and hard-to-find variants such as the MSH2 Boland inversion, PMS2 pseudogene homologous variant, and EPCAM 3' large deletion (see technical spreadsheet for detailed information).  

FEATURES AND BENEFITS 

• Comprehensive Variant Coverage: Screen confidently for 61 clinically relevant variants across 56 cancer-associated genes. This enhanced coverage offers 2.5 times more mutations than our previous version, ensuring even rare and challenging variants are accounted for. 

• Unmatched Complexity: incorporates difficult-to-detect mutations, such as the MSH2 Boland inversion, PMS2 pseudogene homologous variant, and EPCAM 3' large deletion, ensuring robust testing capabilities. 

• High Variant Diversity: includes deletions, duplications, insertions, INDELs, SNVs, and inversions as well as a variety of complex variant types such as homopolymer variants, high-GC region variants, microsatellite variants, whole exon deletion, and deep splice site variants. 

• Single-Vial Convenience: Simplify workflows with a highly multiplexed reference material packaged in a single vial, reducing costs and saving time while boosting QC consistency. 

• Regulatory Compliance Support: designed to support compliance with regulatory standards like CAP, CLIA ensures your lab meets performance, quality, and reporting requirements effortlessly. 

• Sustainable source: Manufactured in GMP-compliant, ISO 13485-certified facilities, the Seraseq Inherited Cancer DNA Mix v2 offers lot-to-lot consistency and an uninterrupted supply chain.