pISSN 2234-3806
eISSN 2234-3814

Table. 2.

Table 2 Methods for pharmacogenetic testing

Methods	Possible target variants	Short variants* detection	CNV detection	Available platforms
Real-time PCR	Pre-defined variants†	Accurate	Possible for targeted regions	TaqMan (Thermo Fisher Scientific, Waltham, MA, USA)
Microarray	Pre-defined variants†	Accurate	Possible for targeted regions	PharmacoScan (Thermo Fisher Scientific)
Single-base extension	Pre-defined variants†	Accurate	Not available	Agena (Agena Bioscience, San Diego, CA, USA) (detection by mass spectrometry) SPMed (SPMED, Busan, Korea) (detection by capillary electrophoresis)
Sanger sequencing	All variants in the target range	Accurate	Not available	Laboratory-developed tests
NGS	All variants in the target range	Accurate	Possible	MiSeq, NextSeq, NovaSeq (Illumina, San Diego, CA, USA) Ion Torrent S5, Genexus (Thermo Fisher Scientific)
Long-read sequencing	All variants in the target range	Less accurate	Possible	PacBio (Pacific Bioscience, Menlo Park, CA, USA) Nanopore (Oxford Nanopore, Oxford, UK)

*Single nucleotide variants and indel variants not longer than 50 bp.

^†A set of variants targeted in the design of the test.

Abbreviations: CNV, copy number variant; NGS, next-generation sequencing.