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The CYP2D6 enzyme is involved in the metabolism of many commonly prescribed drugs. The presence of CYP2D6 gene SNPs can alter CYP2D6 enzymatic activity with effects ranging considerably within a population. Objectives: In this study we have developed a genotyping platform able to determine the alleles related to interindividual variability in CYP2D6 gene. Design and methods: We used a Long PCR strategy coupled to MALDI–TOF mass spectrometry (Sequenom®) to develop a SNPs genotyping method. Furthermore, an amplification allele–specific was carried out to infer the correct allelic phase. Results: We tested the multiplex platform in 250 DNA Sardinian samples and found it to be 100% concordant with the sequencing results of our previous work. Conclusions: The MALDI–TOF–based multiplexing system allowed simultaneous and efficient genotyping of a set of CYP2D6 SNPs, evidencing its potential use in diagnostic test development to predict drug responses and clinical outcome

Genotyping of CYP2D6 Polymorphisms by MALDI-TOF Mass Spectrometry in Sardinian People