Myeloproliferative Neoplasm (MPN) Panel


Myeloproliferative neoplasms (MPN) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are clonal disorders arising from hematopoietic stem cells with altered proliferation and maturation. The diagnosis and classification of these neoplasms is based on a variety of clinical and pathologic characteristics, including the presence of mutations in key driver genes. Mutations in JAK2, CALR, MPL, CSF3R, KIT, and SETBP1 are utilized in the diagnostic criteria of certain subtypes of MPN and MDS/MPN, including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), chronic neutrophilic leukemia (CNL), systemic mastocytosis (SM), and atypical chronic myeloid leukemia (aCML). Mutations in additional genes, including ASXL1, EZH2, IDH1, IDH2, RUNX1, SRSF2, TET2, TP53, and U2AF1, are used to assess risk of progression.

Genes Tested (exons)

ASXL1(NM_015338.5 ex1-13, NM_001164603.1 ex5), CALR(NM_004343 ex8-9), CSF3R(NM_156039 ex17, NM_172313 ex10,18, NM_000760 ex14-16), EZH2(NM_004456, ex2-20), IDH1(NM_005896 ex3-4), IDH2(NM_002168 ex 4,6), JAK2(NM_004972 ex12-16,19-25), KIT(NM_000222 ex1-2,5,8-15,17-18), MPL(NM_005373, ex10,12), RUNX1(NM_001754 ex2-3,5-9, NM_001122607 ex1,5), SETBP1(NM_015559 ex4 p.799-p.950), SRSF2(NM_003016 ex1-2), TET2(NM_001127208 ex4-11, NM_017628 ex3), TP53(NM_000546 ex1-11, NM_001276696 ex10, NM_001276695 ex10), U2AF1(NM_006758 ex2,6-7, NM_001025204 ex6)

CPT Codes



Next-generation sequencing (NGS)

Turnaround Time

14 days

Sample Tested

Blood, bone marrow, cell suspensions and/or extracted DNA