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PDGFR Alpha Mutation Analysis
MessageBi-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.
Test Code
LAB6022
CPT Codes
81314x1
Preferred Specimen
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.
Instructions
Use cold pack for transporting block during summer to prevent block from melting. Slides can be packed at room temperature.
Methodology
Molecular
Report Available
10 days
Clinical Significance
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.
Performing Laboratory
Neogenomics Laboratories
