Diagnostic methodology and technology in molecular genetic pathology

Abstract

The technology for molecular diagnosis has significantly advanced during the past decade that has led to revolutionary changes in molecular testing. This chapter describes common methodologies used in molecular diagnosis including sample collection and preparation, DNA detection and amplification, DNA sequencing, and proteomic methods. For each method, the principle, application, advantages, and limitations were discussed. However, for specific clinical application, please refer to other chapters contained in this book.