GNAQ Mutational Analysis

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.


This test is performed by PCR-based Sanger sequencing of DNA to examine the mutation status of exon 5 of GNAQ.

Test Parameters:  

This assay will detect mutations present in exon 5 of GNAQ. 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.