MPN panel (next generation sequencing)
| Category | Specialist Integrated Haematological Malignancy Diagnostic Service (SIHMDS) >> Molecular Pathology |
|---|---|
| Test background |
A targeted NGS panel used for prognostic and predictive testing in myeloproliferative neoplasms. This assay comprises of 79 amplicons in 13 genes frequently mutated in myeloid malignancies. The regions and the reference sequences covered by this panel are ASXL1 (exon 13; NM_015338.5); CALR (exon 9; NM_004343.3); CBL (exons 8+9; NM001130852.1); CBLB (exons 9+10; NM_001321811.1); CBLC (exons 9+10; NM_012116.3); CSF3R (exons 14 to 18; NM_012433.3); EZH2 (exons 2 to 20; NM_001203247.1); IDH1 (exon 4; NM_001282387.1); IDH2 (exon 4; NM_001289910.1); JAK2 (exons 12 +14; NM_001322195.1); JAK3 (exons 13; NM_000215.3); MPL (exons 10; NM_005373.2); SETBP1 (exon 4 partial; NM_015559.2); SF3B1 (exons 13-16; NM_012433.2). |
| Clinical Indications |
Investigation of suspected (philadelphia chromosome negative) myeloproliferative neoplasms polycythemia vera, essential thrombocythemia and myelofibrosis. |
| Sample & container required | 4ml Blood or bone marrow in EDTA (lavender/purple top) |
| Turnaround time | 21 calendar days |