Test Code: MPNCOM

Genes: CALR, JAK2, KIT, MPL, NPM1 (5 genes)

Sample Type: Blood in EDTA; Bone marrow (Na Heparin Tube)

Method: Hot spot amplicon based Next Generation Sequencing

Turnaround Time: 10 Days

Courier: Ship overnight at room temperature to receive next day. Maintain specimen at room temperature.

Price: 1000

Description:
The 2017 WHO diagnostic criteria for myeloproliferative neoplasms (MPNs) recommend molecular testing for JAK2, CALR, and MPL mutations in primary myelofibrosis (PMF) and essential thrombocythemia (ET), and for JAK2 V617F or exon 12 mutations in polycythemia vera (PV). These regions represent mutation hot spots with high clinical relevance. Frameshift mutations in CALR exon 9 are common in ET and PMF, while JAK2 exon 14 (V617F) and exon 12 mutations are hallmark drivers of MPNs. Mutations in KIT exon 17, particularly D816V, are central to systemic mastocytosis. MPL exons 9 and 10 harbor W515 mutations strongly associated with ET and PMF. In acute myeloid leukemia (AML), especially with normal karyotype, NPM1 exon 11 and the adjacent 3?UTR mutations are among the most frequent and clinically significant.