Horizon Discovery releases a multiplex cfDNA reference standard for EGFR mutations

Horizon Discovery announces the launch of its new cell line-derived epidermal growth factor receptor (EGFR) multiplex cell-free DNA (cfDNA) reference standard. The new reference standard allows laboratories and assay developers to enhance, validate and routinely monitor the performance of polymerase chain reaction (PCR)-based tests, next-generation sequencing (NGS), and other novel assays designed to detect EGFR mutations from cfDNA.

Horizon’s EGFR Multiplex cfDNA Reference Standard covers ten of the most clinically relevant mutations that predict responsiveness to EGFR tyrosine kinase inhibitors (EGFR-TKIs), including T790M, L858R, C797S, and E746-A750del. These variants have been carefully selected to represent a mix of different mutation types, such as SNPs and INDELs.

EGFR is a transmembrane protein in a variety of cancers, especially in non-small-cell lung cancer, and as a result causes uncontrolled cell proliferation, invasion and metastasis. Overexpression of EGFR renders cancer cells sensitive to EGFR-TKIs. Previously, assays were designed to detect mutations in solid tumour tissues, but with advances in liquid biopsy testing, laboratories are now moving towards establishing assays that can detect those mutations from plasma.

There are challenges detecting mutations from small quantities of DNA at a low allelic frequency in liquid biopsy assays. Horizon’s EGFR multiplex cfDNA reference standard is cell line derived and supplied in a DNA fragment range of 160 base pairs, which is comparable to the DNA size found in real samples. The reference standard comes in a set of four vials, with allelic frequencies from 5% down to 0.1%, along with a matched EGFR wild-type, enabling determination of assay specificity, sensitivity and a limit of detection.

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