This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. ASXL1, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CUX1, DDX41, DNMT3A, ETV6, EZH2, FLT3, GATA2, HRAS, IDH1, IDH2, JAK2 including V617F and Exons 12+14, KIT, KRAS, MPL, NF1, NPM1, NRAS, PDGFRA, PHF6, PPM1D, PTEN, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, STAG2, STAT3, TET2, TP53, U2AF1, WT1, and ZRSR2. FLT3 is performed by multiple methods. Individual genes from a validated list of myeloid genes can be added-on. Test orders include summary interpretation of all results together.
This molecular profile analyzes genes frequently mutated in myelodysplastic syndrome (MDS) and the related MDS/MPN overlap disease chronic myelomonocytic leukemia (CMML). Testing is useful to establish diagnosis and develop strategies for treatment and management, as mutations can signify poor or favorable prognosis and they inform of the underlying disease biology. Molecular profiling in MDS and CMML complements and should be interpreted with cytogenetic/FISH test findings. This Profile may also be used in AML cases that evolved from MDS, therapy-related AML, and AML with myelodysplasia.
- Bone marrow (Preferred): 2 mL in EDTA tube.
- Peripheral blood: 5 mL in EDTA tube.
- FFPE tissue: Paraffin block. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative is the recommended fixative. Do not use zinc or mercury fixatives (B5). Highly acidic or prolonged decalcification processes will not yield sufficient nucleic acid to accurately perform molecular studies.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.