Myeloid tumour panel

Analysis of mutations in 59 genes involved in myeloid neoplasia.
Based on a national collaboration.
Testing for mutations that are essential for diagnosis, prognostic and for identifying myeloid neoplasia associated with germline predisposition.
Analysis of relevant mutations in myeloproliferative neoplasms.

Acute myeloid leukaemia (AML) is a heterogeneous group of diseases with different genetic backgrounds and prognosis.
Five years after diagnosis, only 25% of patients are still alive.
In 90% of > cases, gene fusions or mutations are detected.
In addition to the translocations, the European Leukaemia Network identifies the testing of 6 genes as the diagnostic requirement, with more than 20 additional mutations relevant for prognosis and identification of germline predisposition.

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FFPE block or section, cell block, or smear, or isolated DNA

classification of variants according to international standards (pathogenic, likely pathogenic, VUS, etc.)

bioinformatics analysis, identification and annotation of variants

microscopic assessment of tumor cell number, DNA isolation

Isolated genomic DNA or bone marrow aspirate/peripheral blood sample in EDTA.
Recommended tumour cell percentage: ≥20%
Identification of single nucleotide variants (SNVs), short insertions and deletions, and copy number variations (CNVs) using bioinformatics methods.
Classification and annotation of identified variants (ClinVar, COSMIC, HGMD, Varsome, etc.).

FULL CODING REGION: ASXL1, BCOR, CEBPA, DNMT3A, ETV6, EZH2, GATA1, GATA2, IKZF1, PHF6, RAD21, RUNX1, SETD2, SRSF2, STAG2, TET2, TP53, ZRSR2, DDX41, TERC
MUTATION HOTSPOTS: ABL1, ACD, ANKRD26, BRAF, CALR, CBL, CSF3R, CUX1, ERCC6L2, ETNK1, FLT3, GNAS, GNB1, IDH1, IDH2, JAK2, KDM6A, KIT, KRAS, MPL, MYC, NF1, NPM1, NRAS, PDGFRA, PRPF8, PTPN11, SAMD9, SAMD9L, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRP72, TERT, TINF2, U2AF1, WT1