PDGFRA Mutation Analysis

PDGFRA Mutation Analysis


To identify mutations in platelet-derived growth factor receptor alpha (PDGFRA) gene seen in a subset of gastrointestinal stromal tumors (GIST) which can help confirm the diagnosis of GIST and are useful for therapeutic planning.  This mutational analysis can be used in concert with the existing mutational analysis test for KIT exons 9 and 11.


This test is performed by PCR-based Sanger sequencing of DNA to examine the mutation status of exon 18 of PDGFRA. Exons 12 and 14 may also be sequenced but must be specifically requested.

Test Parameters:  

This assay can detect mutations present in exons 12, 14 and 18 of PDGFRA. The sensitivity of the Sanger sequencing assay is 20% of variant sequence in the background of wild-type sequence.

Turnaround Time:

7-10 days

Sample Requirements:
• 10 ug of purified DNA, sent on dry ice


• Four to six unstained recut slides of formalin-fixed, paraffin embedded tissue containing adequate amounts of tumor to be analyzed (See Sensitivity.)
The area of tumor to be analyzed should be indicated by circling the area on the bottom side of the slide or in a separate H&E-stained guide section.
Please provide a copy of the corresponding pathology report.

CPT Codes:


Additional charges may apply for tissue extraction.

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.