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Horizon Introduces Quantitative Multiplex Genomic Reference Standards

Published: Friday, March 08, 2013
Last Updated: Thursday, March 07, 2013
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Increasing the precision and utility of molecular assays for cancer genotype screening.

Horizon Diagnostics (HDx) has announced that it has launched its first Quantitative Multiplex DNA Reference Standard.

This standard is the first of its kind and is intended for researchers assessing multiple biomarkers in a single assay, using platforms such as next generation sequencing (NGS).

As multiplex assays and large tumor profiling projects become more common, standardization will be essential to enable confidence in experimental results.

To date, a significant challenge has been access to reliable, renewable external reference standards.

HDx’s novel Quantitative Multiplex DNA Reference Standard directly addresses this need by enabling researchers to quantify a range of detection thresholds for 11 cancer relevant mutations.

This is accomplished across complex samples in a single assay in the form of renewable material originating from precisely engineered cell lines.

The reference standard is available as genomic DNA and will be available in a matched formalin fixed paraffin embedded (FFPE) format in Q2, 2013.

The mutations were engineered into endogenous loci using Horizon’s proprietary genome editing platform, GENESIS™.

HDx has verified the Quantitative Multiplex DNA Reference Standard using digital PCR and the product has undergone extensive validation by external partners using NGS platforms such as Ion Torrent™.

Further validation is planned using MiSeq™ and Sequenom Mass Array™ Platforms.

“NGS workflows can be complex, typically involving extraction and amplification steps prior to sequencing and bioinformatic analysis. This gives scope for significant variability, which reduces confidence in the data generated, with the potential for some biomarkers being missed altogether,” Horizon’s VP of Products, Dr Paul Morrill, commented.

Dr Morrill continued, “To date, HDx has been successful in enabling laboratories with reliable and renewable singleplex reference standards. With the development and launch of this new Multiplex Standard, HDx is better able to support customers as they address the complexity of tumor genetics, driving towards better understanding of disease and ultimately better patient care.”

HDx will be actively expanding its list of Multiplex Reference Standards over the coming months.

The company is also open to working with clients seeking to develop custom standards with specific customer-defined genotypes and allelic frequencies.

Further Information

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