Iowa Institute of Human Genetics

  • Clinical Genetic Testing

    Clinical Genetics GroupA major mission of the Iowa Institute of Human Genetics (IIHG) is to bring personalized genomic medicine to patients across Iowa, and beyond. The broad clinical expertise at the University of Iowa Hospitals and Clinics has the unique potential to offer diagnostic genetic testing platforms that target specific phenotypes or patient groups. These tests will be developed by the Research Division of the IIHG before their implementation by the Clinical Diagnostic Division of the IIHG.

    Pharmacogenomic Testing is available for CYP2C19 variants known to affect the metabolism of clopidogrel (Plavix®). This test required submission of a saliva sample and the turnaround time for the test is two weeks. The result report will indicate a patient’s metabolizer status – normal, intermediate, or poor. This information can then be considered for the care of the patient.

    Clinical Whole Exome Sequencing is available through the IIHG Clinical Diagnostic Division. Whole exome sequencing is the analysis of the coding portion of approximately 20,000 genes in the human genome. The IIHG Clinical Whole Exome Sequencing test can be ordered by a physician as a tool in the diagnosis and management of their patients, or to narrow a differential diagnosis for a patient with an undiagnosed genetic disorder.

    In addition, three targeted sequencing panels – an expanded pharmacogenomic panel, a genetic renal diseases panel, and a genetic dysmorphology panel are under development by the Research Division of the IIHG.