Clinical Molecular Diagnostic Techniques: A Brief Review

L.-J.C. Wong (ed.), Next Generation Sequencing: Translation to Clinical Diagnostics, DOI 10.1007/978-1-4614-7001-4_2, © Springer Science+Business Media New York 2013 Abstract The identifi cation and characterization of the genetic basis of disease is often fundamental to diagnosis. Detection of pathogenic mutations in a DNA sample can lead to a diagnosis, possible prognosis, and prospective therapy treatments. Over the years, a variety of molecular biology techniques have been utilized in clinical diagnostic laboratories in the analysis of patient samples. The recent development of next-generation sequencing (NGS) techniques has revolutionized the fi eld of clinical molecular diagnostics. In this chapter, we review the development of molecular diagnostic approaches and some of the most commonly used assays prior to the NGS era. Although PCR-based methods are the most commonly used assays in molecular diagnostics today, a number of caveats must be taken into consideration and are also discussed.