Liverpool Ocular Oncology<br />Research Group
 
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GNAQ/GNA11 mutational analysis

Picture
Indication

Mutually exclusive mutations affecting exon 4, codon 183 or exon 5, codon 209, of the G protein α-subunit Q (GNAQ) gene and the G protein α-subunit 11 (GNA11) gene are found in approx 84% of uveal melanomas. The identification of the mutational profile of exons 4 and 5 of GNAQ/GNA11 will facilitate improvement in our knowledge of these neoplasms, and may be useful for selection of patients for targeted therapeutic approaches.

Methodology

PCR-based DNA Sanger sequencing

Test Parameters

This assay will detect mutations in exons 4 and 5 of the GNAQ and GNA11 genes
 
Sample requirements

Formalin fixed paraffin embedded uveal melanoma material with the corresponding haematoxylin and eosin
stained slide from the P0 block. Alternatively, a copy of the corresponding pathology report is required. This procedure requires at least 400ng DNA.

Contact 

We are happy to process samples from external centres for GNAQ/GNA11, please email mailto:hkalirai@liv.ac.uk for further information, or call: (+44) 0151 706 4494.
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