Clinical Validation of Targeted Next Generation Sequencing for XXXX .

@entity984 @entity470 @entity1149 @entity2 @entity14 @entity4365 @entity817
OBJECTIVE: Recently, Next Generation Sequencing (NGS) has begun to supplant other technologies for gene mutation testing that is now required for targeted therapies. However, transfer of NGS technology to clinical daily practice requires validation. METHODS: We validated the Ion Torrent AmpliSeq Colon and @entity2 panel interrogating 1850 hotspots in 22 genes using the Ion Torrent Personal Genome Machine. First, we used commercial reference standards that carry mutations at defined @entity4365 ( @entity4365 ). Then, 51 @entity14 ( @entity14 ) and 39 @entity1149 ( @entity1149 ) were retrospectively analyzed. RESULTS: Sensitivity and accuracy for detecting variants at an @entity4365 >4% was 100% for commercial reference standards. Among the 90 cases, 89 (98.9%) were successfully sequenced. Among the 86 samples for which NGS and the reference test were both informative, 83 showed concordant results between NGS and the reference test; i.e. @entity984 and @entity817 for @entity14 and @entity470 for @entity1149 , with the 3 discordant cases each characterized by an @entity4365 <10%. CONCLUSIONS: Overall, the AmpliSeq @entity2 panel was specific and sensitive for mutation analysis of gene panels and can be incorporated into clinical daily practice.
