The University of Chicago Advanced Technology (UCAT) Clinical Laboratory was established in 2011 within the Department of Pathology. This laboratory is directed by Drs. Yeo and van Wijk, and they work closely with the Center for Personalized Therapeutics (CPT) to prepare and analyze specimens for clinical research, including the 1200 Patients Project, ACCOuNT Project, ImPreSS Trial, and PhOCus Trial. The laboratory is CLIA-certified and CAP-accredited and uses some of the most advanced genotyping techniques currently available.  

The CPT and the UCAT clinical laboratory team have worked together to develop and validate an extensive genotyping panel to analyze hundreds of DNA variants implicated in pharmacogenomics, including SNPs for genes such as: CYP2D6, TPMT, CYP2C19, and NAT2. Genotyping is performed on the ThermoFisher QuantStudio 12K Flex using OpenArray custom plates. One genotyping run can produce data for 480 variants per patient. CYP2D6 genotyping, however, is performed using the Hologic Invader assay, due to the highly polymorphic nature of the CYP2D6 gene, and is interpreted together with analysis of CYP2D6 copy number variation using a Taqman assay¹.

1. E Leung et al. Validation of an Extensive CYP2D6 Assay Panel Based on Invader and TaqMan Copy Number Assays, The Journal of Applied Laboratory Medicine, Volume 1, Issue 5, 1 March 2017, Pages 471–482, https://doi.org/10.1373/jalm.2016.021923