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, ETNK1, ETV6, EZH2, FLT3, GATA2, GNB1, HRAS, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NF1, NPM1, NRAS, PDGFRA, PHF6, PIGA, PPM1D, PTEN, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, STAG2, STAT3, STAT5B, TET2, TP53, U2AF1, WT1, and ZRSR2.
Note: FLT3 by PCR (via FLT3 Mutation Analysis) is available to be ordered, as Client-Bill only, in conjunction with the NeoTYPE MDS/CMML Profile. It is reported separately from the NeoTYPE Profile for the purpose of prompt therapy selection in patients with a new diagnosis of AML.
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 10-14 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.
Note: Test in TNA-based. Please select Extract & Hold - TNA if specimen hold service is desired.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <7 days old preferred.
14 days