NGS-based diagnostics are rapidly becoming part of the clinical genomic testing and are now routinely offered by many commercial and academic laboratories. One of the key features of NGS-based diagnostics is its ability to detect a full range of genetic variation, offering the potential to greatly streamline testing by using a single analysis platform. For example, prognostic evaluation of acute myeloid leukemia generally requires the use of multiple technologies including PCR and fragment sizing to detect FLT3 internal tandem duplications and NPM1 insertions, Sanger sequencing to detect CEBPA, IDH1/2, and DNMT3A mutations, and FISH to detect MLL, RARA, CBFB, and RUNX1 rearrangements. Such complex evaluations require numerous highly trained personnel and are often prohibitively expensive. NGS-based testing, however, can identify SNVs, insertions, and trans-locations in a single assay, often for considerably lower cost compared with that of conventional workups (22,23).
