Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

ABSTRACT:

Background

Next-generation sequencing (NGS) is a high-throughput technology that has become widely integrated in molecular diagnostics laboratories. Among the large diversity of NGS-based panels, the Trusight Tumor 26 (TsT26) enables the detection of low-frequency variants across 26 genes using the MiSeq platform.

Methods

We describe the inter-laboratory validation and subsequent clinical application of the panel in 399 patients presenting a range of tumor types, including gastrointestinal (GI, 29%), hematologic (18%), lung (13%), gynecological and breast (8% each), among others.

Results

The panel is highly accurate with a test sensitivity of 92%, and demonstrated high specificity and positive predictive values (95% and 96%, respectively). Sequencing testing was succe

SUBMITTER: Prieto-Potin I 

PROVIDER: S-EPMC7546223 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature