NGS panel "MPN - DP (Diagnosis/Pronostic)" - (27 Genes)

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Eurofins Biomnis code

MYSDP

Specialty

Genetics

Clinical significance

The NGS panel ¿MPN - DP (Diagnosis / Prognosis)¿ consists of an analysis of 27 genes: ASXL1/CALR/CBL/CSF3R/DNMT3A/ETNK1/ETV6/EZH2/GATA2/IDH1/IDH2/JAK2/KIT/KRAS/MPL/NPM1/NRAS/PTPN11/RUNX1/SETBP1/SF3B1/SRSF2/STAG2/TET2/TP53/U2AF1/ZRSR2. The panel can be prescribed for diagnostic purposes and complements the molecular analysis of the NGS ¿MPN Diagnosis¿ panel. Other mutations may also be identified, indicating molecular clonality, in particular in the context of triple-negative MPN (e.g. TET2, ASXL1 or DNMT3A) or CNL (e.g. SETBP1, ASXL1 or SRSF2) or MDS/MPN with neutrophilia or atypical CML (ASXL1, SETBP1, ETNK1 and EZH2). The notion of CHIP (age-related clonal haematopoiesis of undetermined significance) must be discussed. But its interest is essentially for prognostic purposes:- In the context of primary myelofibrosis, this NGS panel can help clinicians make the right choice between an allogeneic transplant decision and simple clinico-biological monitoring by calculating the MIPSS70+ score (including CALR type 1/1like status and mutations with an unfavourable prognosis: ASXL1, SRSF2, EZH2, IDH1 and IDH2) or the GIPSS score (including CALR type 1/1like status and mutations with an unfavourable prognosis: ASXL1, SRSF2 and U2AF1). Other genes also have an unfavourable prognostic value in MF (in particular TP53).- In Essential Thrombocythemia, the presence of mutations in spliceosome genes (SF3B1, SRSF2 and U2AF1) is associated with poor prognosis and mutations in the mutations in the TP53 gene are predictive of an ultimate diagnosis of acute leukaemia.- In Polycythaemia vera, the presence of a mutation in the SRSF2 gene is associated with poor prognosis. For MDS/MPN with neutrophilia or atypical CML, mutations in TET2, SRSF2 and SETBP1 are associated with a favourable prognosis, whereas mutations in RUNX1 or NRAS are associated with an unfavourable prognosis.

Preanalytics
  • 5 ml EDTA whole blood or 2 ml EDTA bone marrow or DNA extracted : (200ng of DNA minimum)
  •   Ambient temperature
  • A tube specifically for this analysis : No
Further information

Samples to be collected from Monday to Friday
Sample must be refrigerated if transport is > 48 hours
Use the specific request form B8-INTGB: Malignant blood disorders
Attach:
- the results of the FBC - platelets
- the bone marrow report

Specific equipment available
  • S9L: Envelopes yellow for karyotypes LYON
Documents to download
Methodology

Method: Targeted sequencing of genes (NGS). - Library: Library Preparation Enzymatic Fragmentation Kit 2.0 Twist - NGS Platform: NovaSeq Illumina (2x150pb) - paired-end sequencing - Analysis software: Demultiplexage BCLconvert V3.10.5 / VarSome Pipeline version 11.8 (CE-IVD)

Turnaround time

10 days (Results may require an extended turnaround time, one week, depending on the confirmation tests required by Sanger sequencing)

Testing Laboratory

Biomnis Lyon

Contact(s)
Customer Care