Test Name
PDGFRB Gene Rearrangement
Test Code
F PDGFRB
Synonyms
platelet-derived growth factor receptor-beta, JTK12; CD140B;5q32-33
Associations
chronic myeloproliferative disorders with eosinophilia, chronic myelomonocytic leukemia;
tyrosine kinase inhibitors
CPT Codes
88374
Turnaround Time
5
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 Rejections
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells; Improper fixative
Description
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 my
References
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
