Methodology
Molecular
Test Description and clinical significance
Genes
GNAQ
Disease:
Uveal melanoma, lung adenocarcinoma, melanoma, endometrial endometrioid adenocarcinoma, and colon adenocarcinoma
Molecular test that utilizes NGS technology to detect mutations in GNAQ. GNAQ (guanine nucleotide binding protein [G protein], q polypeptide) is a gene that guanine nucleotide-binding protein G(q) subunit alpha, a subunit of one of the heterotrimeric guanine nucleotide binding proteins (G proteins). Oncogenic mutations result in a constitutively active G? subunit
Specimen Requirements
Collection:
FFPE sections, 5-10 sections are recommended at 4 to 10 micron. A minimum of 20 ?l of each DNA with a concentration of at least 5ng/?l and an OD260/280 ratio of 1.7-1.9 and 2.0-2.1 respectively, obtained on a spectrophotometer is required.
Stability:
FFPE blocks- Indefinitely/ FFPE Slides-4 weeks
Unacceptable Conditions:
Specimen submitted is in the incorrect fixative. Insufficient specimen (less than 10% of tumor). Unlabeled or improperly labeled specimens. Decalcified specimens. Improperly stored DNA or RNA.
Storage & Transport
Store FFPE blocks and slides at room temperature. Genomic DNA must be stored at 2–8°C for several weeks post extraction, then at –15 to –25°C for long term storage
CPT(s)
81479 or 81403
New York Approved
NO
TAT
10 Days
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
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