Next-generation sequencing (NGS) has revolutionized how assay developers, laboratories, and clinicians are diagnosing, treating, and monitoring disease. As NGS panels grow to include an increasing number of important biomarkers, so too must the reference standards used for development, validation, and routine QC. However, sourcing sufficient quantities of remnant patient specimens or cell lines containing all of the necessary variants is expensive, time consuming, or not possible.
The UK NEQAS (now GenQA), which conducts external quality assurance (EQA) schemes for a wide range of genomic tests, recently conducted a study of nine Astra Zeneca-funded labs using various assays to assess their ability to detect EGFR T790M and L858 mutations in plasma from patients with non-small cell lung cancer (NSCLC) down to an allele frequency of 1.25%. Since patient samples with known variants are hard to source, UK NEQAS specified a custom VariantFlex™ panel featuring multiple allele frequencies in the same patient-like sample. The study concluded that the use of reference standards allows challenging clinical cases with corresponding genotypes to be assessed, and such samples are reflective of “real” patient samples. It also highlighted the ability of such studies to identify issues with testing methods and reporting formats.
While we offer a wide variety of highly multiplexed Seraseq® NGS reference standards featuring clinically relevant variants covering a range of oncology disease areas, for certain uses when a specific set of variants or configuration is desired, an off-the-shelf product may not be an optimal choice. With SeraCare’s VariantFlex custom platform, you can easily get the variants you need at your desired allele frequencies in the format that fits your assay. Your custom reference material will arrive as quickly as six weeks, thanks to our streamlined process and flexible biosynthetic technology. With custom standards starting at $4,000, this can a viable and cost-effective approach for use cases such as the one that Dr. Sandi Deans of UK NEQAS/GenQA describes in the video below.
See how easy it is to configure your own VariantFlex custom reference standard with our new configurator and get an instant price and turnaround time estimate. Learn More.