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PDGFRβ Gene Rearrangement by FISH

Test Code


Test Synonyms

platelet-derived growth factor receptor-beta, JTK12; CD140B;5q32-33


chronic myeloproliferative disorders with eosinophilia, chronic myelomonocytic leukemia;

tyrosine kinase inhibitors


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; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells; Improper fixative

Reference Range

See report.


This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family.  A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia.


Apperley, J. F., et all. (2002) Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. New Eng. J. Med. 347: 481-487

Golub, T. R., Barker, G. F., Lovett, M., Gilliland, D. G. (1994) Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 77: 307-316