Bi-directional sequencing of exons 12 and 18 of the PDGFRA (platelet-derived growth factor alpha) gene. These exons are mutation hotspots that account for the majority of PDGFRA mutations detected in gastrointestinal stromal tumors (GISTs) including the common TKI-resistance mutation D842V. Solid tumor enrichment is performed before extraction.
PDGFRa mutations are found in soft-tissue sarcomas including gastrointestinal stromal tumors (GISTs). Identification of mutations is informative for sensitivity or resistance to tyrosine kinase inhibitor (TKI) therapy.
- FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Use cold pack for transporting block during summer to prevent block from melting. Slides can be packed at room temperature.