GNA11 Mutational Analysis

GNA11 Mutational Analysis


The GNA11 or guanine nucleotide-binding protein subunit alpha-11, is located on the short arm of chromosome 19 at position 13 (19p13.3), and encodes for the alpha subunit of a heterotrimeric G protein involved in intracellular signaling and signal transduction. The alpha subunit acts as a molecular switch to activate and deactivate intracellular signaling. Mutations of the alpha subunit cause constitutive intracellular signaling, may up-regulate the MAP kinase pathway, and can lead to uncontrolled cell proliferation and cancer.
Mutations in GNA11 have been previously described in <10% of blue nevi, ~30% of uveal melanomas and ~60% of uveal melanoma metastases. A vast majority of reported mutations involve glutamine in position 209 (Q209) of exon 5. MDL has developed sequencing-based testing to assess for mutations in codon 209 ofGNA11 to be used in the clinical work-up of patients with melanoma. Characterizing mutations of GNA11 may be useful for prognosis and selection of patients for targeted therapeutic approaches.


This test is performed by PCR-based Sanger sequencing of DNA to examine the mutation status of codon 209 in exon 5 of GNA11.

Test Parameters:  

This assay will detect mutations present in exon 5 of GNA11. 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.