This test is performed by the sequencing the entire coding regions of the genes listed using cell-free plasma DNA/RNA. ASXL1, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CUX1, DDX41, DNMT3A, ETV6, EZH2, FLT3, GATA2, HRAS, IDH1, IDH2, JAK2 V617F, JAK2 Exon 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. 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 developing strategies for treatment and management, as mutations can signify poor or favorable prognosis and they inform of the underlying disease biology. In addition, this test can be used for screening and determining if a bone marrow biopsy is an absolute necessity, as well as monitoring disease status and response to therapy. It can also be used for performing molecular studies when a bone marrow sample is inadequate (dry tap, insufficient quantity, or not viable), or not available. 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.
- Peripheral blood: 2 x 6 mL EDTA tubes (total 12 mL) or 10 mL in EDTA tube.
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.