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Myeloproliferative Neoplasms Panel (MPD) by FISH

Test Code


Test Synonyms

+8. BCR/ABL t(9;22), 13q-, 20q-


Myeloproliferative disorder (MPD)


Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

5mL peripheral blood in sodium heparin
3mL bone marrow in sodium heparin
Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid

Specimen Stability
Blood and bone marrow = 4°C to 25°C, specimens are stable up to 72 hours
Fixed cell pellets are stable for years when stored at -28°C to 15°C
Storage & Handling

4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.

Causes for Rejection

Clotted specimen; Specimens exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

See report


A group of pre-leukemic diseases, myeloproliferative disorders are characterized by a clonal expansion of one or more lineages of the myelo-erythroid series of which polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis are the main malignant diseases formed. 30-40% of patients with polycythaemia vera and idiopathic myelofibrosis have chromosomal abnormalities and these indicate a poor prognosis, while patients with essential thrombocythaemia rarely have chromosomal abnormalities. Acquired changes seen at diagnosis include del(20q), del(13q), trisomy 8 and 9 and duplication of segments of 1q.

The V617F mutation in the JAK2 gene has also been found in ~97% of patients with polycythemia vera, ~57% of patients with essential thrombocythemia and ~50% of patients with myelofibrosis. JAK2 is offered as a reflex test in “Philadelphia negative” (t[9;22]) chronic myeloproliferative disorders.

  1. Baxter EJ et al. (2005). Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 365:1054-1061.
  2. Anthony J. Bench et al. (2001). Myeloproliferative Disorders Best Practice & Research Clinical Hematology. Volume 14,3:531-551.