PDGFRA,(4q12) GeneRearrangement

DESCRIPTION – PDGFRA is present at 4q12. PDGFRA is formed by the deletion of 243 base pairs in exons 8 and 9 of the extracellular portions. This type of mutation is reminiscent of the EGFR vIII mutant that frequently observed in GBM

CLINICAL UTILITY – for diagnosis of myeloproliferative/myelodysplastic syndrome with eosinophilia

METHODOLOGY – fluorescence in situ hybridization (FISH)

TURN AROUND TIME – 7 days

PATIENT PREPARATION –

COLLECT – non diluted bone marrow aspirate or sodium heparin

SPECIMEN PREPARATION – 3-4 ml bone marrow or peripheral blood in green top (sodium heparin) or lavender top (EDTA) tube

STORAGE/TRANSPORT TEMPERATURE – 2-8 degrees C (with cold pack) and transport within 72 hours

STABILITY – ambient: 48 hours; refrigerated: 48 hours

UNACCEPTABLE CONDITIONS – frozen or clotted specimens

MRP - 3500.00

SPECIAL INSTRUCTIONS – clinical history is mandatory