The UAGC-CS has contracted with an industry partner (Geneticure Inc.) to be the exclusive clinical provider of their hypertension panel testing. The UAGC-CS provides genotyping profiles to Geneticure that are used to optimize the treatment of hypertensive patients. The integrative physiology based testing is performed from a simple buccal swab collection kit and results are provided in approximately 6-8 business days meeting the need for quick clinical reporting in genetically guided treatment.
PGx testing (pharmacogenetic analysis) is performed to provide information for clinicians prescribing medication for patients. The University of Arizona Genetics Core for Clinical Services pharmacogenetics panel targets 61 variable sites within 18 different genes involved with drug metabolism and transport pathways. DNA is isolated from a patient cheek swab and genomic regions containing the various polymorphic sites are amplified and subsequently tested using the Agena MassArray™ platform. The allelic status of each site is then recorded and results are converted into a patient haplotype profile. These haplotype profiles can be used to assess the metabolic status of known drug classes and specific medications for each individual patient
- The DNA is isolated from patient check swab samples.
- DNA is both amplified and extended in separate reactions via the Agena PGx 74 kit™ for downstream analysis on the Agena MAssArray™ platform to generate patient genotypes.
- The patient genotypes are converted to a haplotype profile for use in determining metabolic status of the patient.
Chimerism testing (engraftment analysis) is performed for patients who have received a hematopoietic stem cell transplant. The test involves identifying the genetic profiles of the recipient and of the donor and then evaluating the extent of mixture in the recipient’s blood or bone marrow. First, DNA is isolated from the recipient and potential donor before the transplant and analysis is performed to determine whether the genetic markers unique to the donor and the recipient have sufficient power to distinguish the donor from the recipient. Next, after the transplant takes place, the performance of the transplant engraftment is assessed by evaluating the donor versus recipient contribution of white blood cells in post-transplant blood or bone marrow specimens obtained from the recipient.
- The DNA is isolated from the recipient, donor, and post-transplant samples.
- DNA is amplified via the Promega GenePrint24 System which employs methodology commonly used in human identity testing and is accomplished by the analysis of genomic polymorphisms called short tandem repeat (STR) loci.
- The percent donor chimerism is calculated and reported, and a longitudinal plot of historic data is generated for successive post-transplant specimens.