Eurofins Biomnis code

MYSDG

Specialty

Genetics

Clinical significance

The NGS panel «NMP-Diagnostic» consists of an analysis of the JAK2, CALR, MPL, CSF3R, SF3B1, SETBP1 and ETNK1 genes. According to the WHO/ICC 2022, the mutation status of the JAK2, CALR, MPL, CSF3R and SF3B1 genes contributes to the diagnostic criteria for the following myeloproliferative neoplasias (MPN) and MDS/ MPN: - Polycythaemia vera (JAK2 exon 14 and 12 mutations), - Essential thrombocythemia (JAK2, CALR, MPL mutations) - Primitive myelofibrosis (JAK2, CALR, MPL mutations), - Chronic Neutrophilic Leukaemia (CSF3R mutation). - Myelodysplastic/myeloproliferative neoplasm with SF3B1 mutation and thrombocytosis The presence of a SETBP1 or ETNK1 mutation provides diagnostic support for the WHO 2022 Myelodysplastic/myeloproliferative neoplasm with neutrophilia (or atypical CML according to ICC 2022).

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

• Specific request form B8-INTGB
• Panel form (DS69-INTGB-MPN)
• Information aimed at healthcare professionals(DS2-INTGB)

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 business days