• Atrazhev, Alexey
• Makin, Alistair
• Stickel, Alex
• Kagiala, Govind V.
• Chowdhury, Jeeshan
• Newman, William
• Lauzon, Jana
• Pushpakom, Sudeep
• Pilarski, Linda M.
• Backhouse, Christopher J.

Abstract

Prospective clinical pharmacogenetic testing of the thiopurine S-methyltransferase gene remains to be realized despite the large body of evidence demonstrating clinical benefit for the patient and cost effectiveness for health care systems. We describe an entirely microchip-based method to genotype for common single nucleotide polymorphisms in the thiopurine S-methyltransferase gene that lead to serious adverse drug reactions for patients undergoing thiopurine therapy. Restriction fragment length polymorphism and allele-specific polymerase chain reaction have been adapted to a microfluidic chip-based polymerase chain reaction and capillary electrophoresis platform to genotype the common *2, *3A, and *3C functional affeles. In total, 80 patients being treated with thiopurines were genotyped, with 100% concordance between microchip and conventional methods. This is the first report of single nucleotide polymorphism detection using portable instrumentation and represents a significant step toward miniaturized for personalized treatment and automated point-of-care testing. Copyright © American Society for Investigative Pathology and the Association for Molecular Pathology.

Topics

• impedance spectroscopy