Structural Multiplex cfDNA Reference Standard

Structural variants including gene translocations, fusions, copy number variants (CNV) and large INDELs are commonly found in tumours, and can serve as clinical biomarkers to identify cancer, to monitor cancer treatment effectiveness and disease progression. CNVs such as amplification of MET in combination with mutations in EGFR (T790M) can lead to Gefitinib resistance in lung cancer 1, 2. PCR-based assays3, 4 and NGS4 that better detect structural variants are constantly emerging. However, the detection of structural variants presents several challenges and bioinformatics pipelines are continuously evolving to improve confidence in structural variant detection.

The Structural Multiplex cfDNA Reference Standard covers a wide range of mutations in a defined genomic context. This standard consists of DNA derived from human cell lines that is fragmented to an average size of 160 bp to closely resemble cfDNA extracted from human plasma. This product is designed to challenge your molecular and bioinformatic work flow by providing validated copy number variants/amplifications, translocations, and large insertions/deletions. Additionally, you may examine the genomic context of variants within regions of specific GC-content (high vs. low). The Structural Multiplex cfDNA Reference Standard includes 9 variants validated by ddPCR, with most of them centred at 5% allelic frequency.

Highlight features of the Structural Multiplex include RET and ROS1 fusion variants, MYC-N and MET focal amplifications and a BRCA2 variant.

The Structural Multiplex is also available in high molecular weight gDNA (HD753) and FFPE (HD789) format.

• https://www.horizondiscovery.com/media/datasheets/structural-multiplex-product-info-sheet.pdf
• Product information- please check in the Horizon webpage https://www.horizondiscovery.com