Background: Genotyping is crucial to the identification of genetic markers underlying development of neoplastic diseases and individual variations in responses to specific drugs. Cost- and time-effective technologies able to accurately identify genetic polymorphisms will dramatically affect routine diagnostics processes and future therapeutic developments. However, such methods need to fulfill the principles of analytical validation to determine their suitability to assess nucleotide polymorphisms in target genes.

Approach: This article reviews the recent developments of technologies for genotyping of single nucleotide polymorphisms (SNPs). For the appropriate choice of any method, several criteria must be considered: i) known or unknown genetic variations in a given cancer gene; ii) needs of testing within pharmacogenomics studies; iii) diffusion and availability of large platforms and required equipments; iv) suitability of tests for routine diagnostics; v) capacity of methods to offer a specific and sensitive detection of mutant alleles within great excess of wild-type alleles in a given sample; vi) suitability for high-throughput implementation.

Content: This review is intended to provide the reader with a better understanding of the various technologies for pharmacogenomics testing in the routine clinical laboratory. A brief overview is given on the available technologies for detection of known mutations together with a precise description of the homogeneous technologies and platforms currently employed in genotyping analysis.

Based on the criteria proposed here, potential users may evaluate advantage and limitations of the different analytical platforms and possibly identify the most appropriate one according to specific operative settings and diagnostic needs.