Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform

This article presents additional next generation data from our preclinical validation study. In total 121 samples (clinical specimen and interlaboratory test samples) were tested successfully with next generation sequencing. 38 different mutations in six different genes were detected. Next to the detection of different mutations, the reproducibility of the NGS test was analyzed. Three samples were analyzed five times and the results were compared. Several mutations classified as non-pathogenic so far, have been detected repeatedly. (C) 2018 The Authors. Published by Elsevier Inc