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Analytical validation of a melanoma diagnostic gene signature using formalin-fixed paraffin-embedded melanocytic lesions

    M Bryan Warf

    *Author for correspondence:

    E-mail Address: bwarf@myriad.com

    Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA

    ,
    Darl D Flake

    Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA

    ,
    Doug Adams

    Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA

    ,
    Alexander Gutin

    Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA

    ,
    Kathryn A Kolquist

    Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA

    ,
    Richard J Wenstrup

    Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA

    &
    Benjamin B Roa

    Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA

    Published Online:https://doi.org/10.2217/bmm.15.11

    Aim: These studies were to validate the analytical performance of a gene expression signature that differentiates melanoma and nevi, using RNA expression from 14 signature genes and nine normalization genes that generates a melanoma diagnostic score (MDS). Materials & Methods: Formalin-fixed paraffin-embedded melanocytic lesions were evaluated in these studies. Results: The overall SD of the assay was determined to be 0.69 MDS units. Individual amplicons within the signature had an average amplification efficiency of 92% and a SD less than 0.5 CT. The MDS was reproducible across a 2000-fold dilution range of input RNA. Melanin, an inhibitor of PCR, does not interfere with the signature. Conclusion: These studies indicate this signature is robust and reproducible and is analytically validated on formalin-fixed paraffin-embedded melanocytic lesions.

    Papers of special note have been highlighted as: • of interest; •• of considerable interest

    References

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