This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. ABL1, ASXL1, BRAF, CALR, CEBPA, CSF3R, EZH2, FLT3, HRAS, IDH1, IDH2, JAK2 including V617F and Exons 12+14, KIT, KRAS, MPL, NF1, NPM1, NRAS, PPM1D, PDGFRA, PTEN, PTPN11, SETBP1, SF3B1, SRSF2, TET2, TP53 and U2AF1. CALR and FLT3 are 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 profile detects mutations associated with the myeloproliferative neoplasms polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) that are informative to differentiate reactive conditions from MPN, classify disease, assess prognosis, and identify clinical trial opportunities for novel therapies.
- 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.