Detection of mutations in key genes recurrently mutated in myeloid malignancies. Genomic DNA is isolated from bone marrow aspirates or peripheral blood and the DNA sequence of targeted regions of the ASXL1, BCOR, BRAF, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A, ETNK1, ETV6, EZH2, GATA2, GNAS, GNB1, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NF1, NPM1, NRAS, PDGFRA, PHF6, PPM1D, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRSF2, STAG2, STAT3, STAT5B, TET2, TP53, U2AF1, WT1, ZRSR2 genes is determined using next-generation sequencing (NGS) technology.

Cytogenetic abnormalities commonly associated with myelodysplastic syndrome (MDS) are detected by fluorescence in situ hybridization (FISH). Probes for 5q (5q-/-5/+5), 7q (7q-/-7), Cen 8 (+8), KMT2A (MLL)(11q23.3), 20q (20q-) are included in the MDS Standard FISH Profile.