Increasing demand for molecular genetic testing, without increased staffing, requires laboratories to devise innovative solutions that utilize technologies outside a Sanger sequencing-based approach. Due to its limited throughput, lack of scalability, and reduced sensitivity for low-level somatic variant detection, we are implementing a massively parallel sequencing (MPS) approach for our routine testing. This approach has enabled us to expand our testing regime to include more genes and develop an in-house somatic variant pipeline in the future. 
Our “small gene panel” assay is performed on the Agilent Magnis NGS Prep system. It offers a small-scale, fully automated, SureSelect XT capture-based library preparation with a turnaround time of less than 12 hours. The use of the Magnis instrument has several benefits, including improved library reproducibility, while also minimizing scientist “hands-on” laboratory time. This bench-top instrument is capable for critically fast turnaround time from sample receipt to variant reporting in as little as six working days. We will present our experience of this instrument and technology here.
 

Advances in next-generation sequencing (NGS) technologies enabled us to identify genetic causes of many inherited diseases. The application of NGS in molecular diagnosis includes targeted gene panels, whole exome sequencing (WES), and whole genome sequencing (WGS). While targeted gene panels include potentially relevant genes for specific diseases, WES includes protein coding genes in the entire human genome, attributable to ~85% of disease-causing variants. WES enables us to increase standardization, reanalysis of negative cases, and new gene discovery.
This session provides an overview of NGS approaches used for diagnosis of inherited diseases and describes our experience of WES using Agilent Exome V8 in our laboratory.

Recent advances in gene analysis technology have been remarkable, and many technologies that can be easily introduced in each in-house laboratory have been developed. Especially a comprehensive gene panel analysis using targeted sequences is a cost-effective and powerful tool for gene screening. In addition, we can screen copy number variations (CNVs) by pair analysis using targeted sequence data. Moreover, when CNVs are suspected, custom array CGH can detect the exact range of CNVs. These genetic analysis tools have enabled us to diagnose almost all inherited kidney diseases. In this lecture, I will explain how practical these techniques are in clinical practice by giving examples.

In this talk, we will review the latest product advancements across Agilent’s genomics portfolio and how it is enabling labs to perform inherited disease testing. From custom panels to exomes, automation to analysis, learn how Agilent can provide a complete end-to-end, scalable solutions.