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HelpTest ID UVEAL GNAQ/GNA11 Mutation Analysis, Uveal Melanoma
Useful For
Aiding in the diagnosis of uveal melanoma and targeting therapeutic approaches
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SLIRV | Slide Review in MG | No | Yes |
Testing Algorithm
When this test is ordered, slide review will always be performed at an additional charge.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name
GNAQ/GNA11 Mutation AnalysisSpecimen Type
VariesPathology report must accompany specimen in order for testing to be performed.
Forms: If not ordering electronically, complete, print, and send an Oncology Test Request Form (T729) with the specimen
(http://www.mayomedicallaboratories.com/it-mmfiles/oncology-request-form.pdf)
Preferred:
Specimen Type: Tissue
Container/Tube: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.
Acceptable:
Specimen Type: Tissue
Container/Tube: Slides
Specimen Volume: 1 stained and 5 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 5 unstained, nonbaked slides with 5-micron thick sections of the tumor tissue.
Specimen Minimum Volume
Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or 1 slide stained with hematoxylin- and -eosin and 5 unstained, nonbaked slides with 5-microns thick sections of the tumor tissue.
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Frozen | ||
| Refrigerated | ||
Clinical Information
The GNAQ and GNA11 codon 209 mutations in exon 5 are the most common genetic alterations in uveal melanoma, occurring in around 80% of uveal melanoma tumors. Additionally, these mutations occur almost exclusively in uveal melanomas and blue nevi. Detection of the codon 209 mutations can help in the diagnosis of uveal melanoma cases, as well as aid in knowledge of prognosis and possible therapeutic approaches.
Reference Values
An interpretive report will be provided.
Cautions
Clinical diagnosis or therapy should not be based solely on this assay. The results should be considered in conjunction with clinical information and additional diagnostic tests.
Day(s) Performed
Performed weekly, varies
Report Available
10 daysPerforming Laboratory
Mayo Medical Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81403- GNAQ (guanine nucleotide-binding protein G[q] subunit alpha)(eg, uveal melanoma), common variants (eg, R183, Q209)
81479- Unlisted molecular pathology procedure code
Slide Review
88381-Microdissection, manual