Alternative Name
PDGFR Alpha Mutation Analysis
Test Description

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.

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.

Specimen Requirements
  • 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.
Storage and Transportation

Use cold pack for transporting block during summer to prevent block from melting. Slides can be packed at room temperature.

CPT Code(s)*
Turnaround Time

10 days

Level of Service

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.