Lab Test

Test Definition Number : 143
Test Definition Name : GNA11 sequence analysis
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1188
Lab Test Name : GNAQ and GNA11 Mutation Analysis
Status : Active
Expired : No
Updated : 2018-01-28 07:44 EST

General Attributes

Chromosome Band : 19p13.3
HUGO Gene Name : [GNA11] guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
ICD-Oncology Code
(includes WHO classification diagnoses)
:

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Sequencing - Sanger - Bi-directional
Specimen Source
(for clinical patient care these sources must be validated)
: Solid Tissue Paraffin-Embedded Formalin-Fixed
ICD-10 Code :
Use : Clinical - CLIA-certified lab
Genetics Category : Acquired (somatic)
SNOMED CT :
LOINC :
Comments : Background: The most common oncogenic mutations associated with ocular (choroidal/uveal) melanomas occur in the genes for two related GTP-binding proteins, GNAQ and GNA11. Rarely, these genes are mutated in cutaneous melanomas. Both gene products are involved in signal transduction from transmembrane receptors through the MAP kinase pathway. Pre-clinical studies have shown that mutations in GNA11 induced spontaneously metastasizing tumors in a mouse model. And a melanoma cell line harboring a GNAQ Q209L mutation has been shown to be sensitive to a MEK inhibitor. Recommended Use: Screening for GNAQ and GNA11 mutations may be useful in subtyping melanomas for potential targeted therapy in clinical trials. Methodology: Identical hotspots in both genes (Q209 and R183) are screened by bidirectional Sanger sequencing using DNA from formalin-fixed, paraffin-embedded (FFPE) tumor tissue.
Specimen Transport Requirements : Paraffin block or 10 unstained sections (4-5 micron) Due to DNA damage, decalcified specimens are not recommended. Package and ship samples at room temperature. Ship via overnight express. Contact Client Services at (855) 535-1522 for shipping kits and instructions.
Samples Available for Proficiency Test Sample Exchange : Yes

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