Cytogenetic abnormalities commonly associated with acute myeloid leukemia (AML) are detected by fluorescence in situ hybridization (FISH). Probes for MECOM (3q26.2), DEK/NUP214 t(6;9), RUNX1T1/RUNX1 t(8;21), KMT2A (MLL)(11q23.3), PML/RARA t(15;17) and CBFb/MYH11 inv(16) are included in the AML FISH Profile.

Detects FLT3 and NPM1 mutations, which are commonly found in acute myeloid leukemia (AML). FLT3 ITD and TKD regions are analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis. The signal ratio of the FLT3 ITD region compares the signal intensity of the mutation to the wild-type. Exon 12 of NPM1 is analyzed by PCR and fluorescent fragment size analysis to detect small insertion mutations specific to AML.

Internal Tandem Duplication (ITD) and Tyrosine Kinase Domain (TKD). FLT3 ITD and TKD regions are analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis. The signal ratio of the FLT3 ITD region compares the signal intensity of the mutation to the wild-type.

Exon 12 of NPM1 is analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis to detect small insertion mutations specific to AML.

Reverse transcriptase polymerase chain reaction (RT-PCR) for quantitative detection of t(15;17) PML-RARA, a recurrent genetic abnormality found in acute promyelocytic leukemia (APL). This RNA-based test detects all three gene fusion patterns: type A (short, S-form, bcr-3), type B (long, L-form, bcr-1), and type B variant (variable, V-form, bcr-2).

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.

Detects the MLL partial tandem duplication (PTD) between exons 2 and 8 in the MLL gene.

Detects FLT3 and NPM1 mutations, which are commonly found in acute myeloid leukemia (AML). FLT3 ITD and TKD regions are analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis. The signal ratio of the FLT3 ITD region comparing the signal intensity of the mutation to the wild-type is reported in positive cases. Exon 12 of NPM1 is analyzed by PCR to detect small insertion mutations typical of AML.

Detects the FLT3 internal tandem duplication (ITD) and tyrosine kinase domain (TKD) mutations, which are commonly found in acute myeloid leukemia (AML). FLT3 ITD and TKD regions are analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis. The signal ratio of the FLT3 ITD region comparing the signal intensity of the mutation to the wild-type is reported in positive cases