Abstract
The fields of molecular biology and nucleic acid chemistry have advanced rapidly over the last several decades, resulting in a wide variety of molecular methods now available for the detection of clinically relevant genetic variants. While keeping pace with the constant evolution of methodologies is a challenge, it is important to maintain the perspective that all molecular methods are based on relatively few key principles. Understanding these basic principles is essential for appropriate ordering of molecular tests, accurate analytical and clinical interpretation of test results, and clear communication of results to patients. As an example, there are at least five methods currently used for clinical BRAF testing. All are reasonable methodological approaches, but each has unique strengths and weakness that should be considered in the context of an individual test result.
This chapter provides an overview of molecular methods. Key concepts are discussed that will give the reader a foundation for evaluating molecular assays and interpreting their results critically. Practical considerations such as sample composition, pre-analytical variables, costs, and reimbursement are also discussed. Assays used in the management of the dermatology patient are highlighted.
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Hosler, G.A., Murphy, K.M. (2014). Molecular Methods. In: Molecular Diagnostics for Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54066-0_3
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DOI: https://doi.org/10.1007/978-3-642-54066-0_3
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