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GNAQ Mutational Analysis


Mutations exclusively affecting exon 5, codon 209, of the G protein α-subunit(GNAQ) gene is found in a subset of uveal melanomas and blue nevi. The identification of the mutational profile of exon 5 of GNAQ will facilitate sufficient knowledge of these neoplasms, prognostic significance, and may be useful for selection of patients for targeted therapeutic approaches.


PCR-based DNA Sanger sequencing.

Test Parameters

This assay will detect mutations in exons 5 of the GNAQ gene. The sensitivity of detection is approximately one mutated cell per five cells in the sample.

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


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