LOINC display name : BRAF gene V600 mutations Molgen Nom (cfDNA);
LOINC long common name : BRAF gene V600 mutations [Identifier] in Plasma cell-free DNA by Molecular genetics
method Nominal;
LOINC short name : BRAF p.V600 mutations Plas.cfDNA;
LOINC description : Detection of BRAF V600 variants, including V600E (Val600Glu, c.1799T A) and V600K
(Val600Lys, c.1798_1799delGTinsAA), in cell-free DNA. Using cell-free DNA is alternative
to invasive tissue biopsies. The most prevalent mutations are V600E (70 90%) and V600K
(5 30%); other mutations are rare. A positive result indicates the presence of an
activating BRAF mutation and may be useful for guiding the treatment of individuals
with melanoma.;