Abstract
Purpose: A non-invasive genomic test that detects over-expression of PRAME and/or LINC00518 RNA has been shown to rule out melanoma in uncertain pigmented lesions with a negative predictive value of >99%. Detection of TERT promoter mutations (TERTpm) was recently shown to further enhance the assay’s sensitivity, and TERTpm analysis is now offered as an optional add-on to the assay when sufficient DNA is present. A clinical registry was initiated to better characterize TERTpm analysis and its effect on test performance.
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