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PDGFRA Mutation Analysis

Indication

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.

Methodology

PCR-based DNA Sanger sequencing.  This is also available on a Next Gen Sequencing panel.

Test Parameters

This assay will detect mutations in exons 12, 14 and 18 of the PDGFRA gene. The sensitivity of detection is approximately one mutated cell per five cells in the sample. If PCR sequencing of exon 18 lack a characteristic mutation, then subsequent analysis of PDGFRA exons 12 and 14 would be initiated.

Turnaround Time

10 days

Sample Requirements

Formalin-fixed, paraffin embedded tissue blocks containing adequate amounts of tumor to be analyzed (see above sensitivity), with areas to be tested indicated. Comparison of normal and tumor, or several different areas of tumor can be done, for additional charge.

Please provide a copy of the corresponding pathology report.

CPT Codes

81404

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.


© 2014 The University of Texas MD Anderson Cancer Center