Sample type guide
A Lavender Vacutainer, EDTA anticoagulant, 4ml/6ml (6ml EDTA tubes are used for specific PCR assays)
Requires patient informed consent
Test details
Gene content on the panel has been curated to cover relevant targets for all the major myeloid disorders – acute myeloid leukaemia (AML), myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPNs), chronic myeloid leukaemia (CML), chronic myelomonocytic leukaemia (CMML), and juvenile myelomonocytic leukaemia (JMML).
Among the targets are Calreticulin (CALR), JAK2, MPL and NPM1, which were previously offered as individual tests.
| DNA – 28 hotspot genes | ANKRD26, ABL1, BRAF, CBL, CSF3R, DDX41, DNMT3A, FLT3 (ITD, TKD), GATA2, HRAS, IDH1, IDH2, JAK2, KIT, KRAS, MPL, MYD88, NPM1, NRAS, PPM1D, PTPN11, SMC1A, SMC3, SETBP1, SF3B1, SRSF2, U2AF1, WT1. |
| DNA – 17 full genes | ASXL1, PRPF8, BCOR, RB1, CALR, RUNX1, CEBPA, SH2B3, ETV6, STAG2, EZH2, TET2, IKZF1, TP53, NF1, ZRSR, PHF6. |
| DNA – 5 expression genes | BAALC, MECOM, MYC, SMC1A, WT1. |
| DNA – 5 expression control genes | EIF2B1, FBXW2, PSMB2, PUM1, TRIM27. |
| DNA Panel (45 genes) |
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Profile details
This NGS assay allows for rapid generation of comprehensive profile of variants (both DNA and RNA) from a single NGS run. This assay can profile both DNA and RNA targets including DNA mutations and translocations detected from RNA targets and allows for simultaneous interrogation of 45 DNA target genes and 30 RNA fusion driver genes. The broad fusion panel enables sequencing of over 700 unique fusion transcripts.
The panel covers relevant targets for acute myeloid leukaemia, myelodyplastic syndromes and myeoproliferative neoplasms, including CML, CMML and JMML. Among the targets are Calreticulin (CALR), JAK2, MPL and NPM1, which were previously offered as individual tests.