Sensitive new assay finds abnormalities in tumor cells that other techniques may miss
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Philadelphia, June 18, 2018 – RNA-Seq is a new next-generation assay that can detect gene fusions in solid tumor cells with high accuracy and excellent reproducibility. According to a new report in The Journal of Molecular Diagnostics, the assay detected 93 percent of gene fusions identified by currently available methods with no false positives. Importantly, gene fusions missed by other techniques were found, including 18 that had never been described before. This study paves the way for clinical use of the assay to advance the diagnosis and treatment of solid tumors.

RNA-Seq is an extremely powerful method for analyzing all of the expressed genes in the genome for genetic alterations such as gene fusions, mutations, and abnormal expression that might have therapeutic, diagnostic, or prognostic significance. “It is very important to understand the accuracy, reproducibility, and sensitivity of these assays for utilities such as gene fusion detection before they are used clinically. To date very few studies have done that,” explained lead investigator Kevin C. Halling, MD, PhD, of the Departments of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Experimental Pathology at the Mayo Clinic, Rochester, MN, USA.

Using the RNA-Seq assay, researchers analyzed 76 specimens, including

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