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 82 amplicons in 15 genes frequently mutated in myeloid malignancies. The regions covered by this panel are: ASXL1 (exon 13); CALR (exon 9); CBL (exons 8 and 9); CSF3R (exons 14-18); EZH2 (exons 2-20); IDH1 (exon 4); IDH2 (exon 4); JAK2 (exons 12 and 14); MPL (exons 10); SETBP1 (exon 4 partial); SF3B1 (exons 13-16), U2AF1 (exons 2 and 6); NRAS (exons 2 and 3), KRAS (exons 2-4); SRSF2 (exon 1). |
| 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 |
| Notes | The laboratory is not UKAS accredited for this test due to a change in equipment/assay. Awaiting assessment. |