Genetics

ARUP Consult released new and updated resources on genetic cardiovascular disease, the effects of common anticoagulants on coagulation testing, laboratory testing for primary sclerosing cholangitis.

Utah added screening for GAMT deficiency to its NBS panel in 2015, becoming the first state to do so. It is now one of only three states to screen for the condition.

In December 2020, Utah’s Newborn Screening Program identified the first patient with guanidinoacetate methyltransferase (GAMT) deficiency solely through newborn screening.

Karl Voelkerding, MD, FCAP, once imagined practicing medicine as a primary care physician in a rural setting. Instead, Voelkerding would become one the world’s leading experts in NGS.

Assistant Professor, University of Utah School of MedicineEducationDoctorate Degree—Genetics, Okayama UniversityMedical Degree—Mansoura UniversityFellowship—Clinical Molecular Genetics, Icahn School of Medicine at Mount SinaiResearch Fellowship—Genetics, Boston Children’s HospitalCertifications/…

ARUP Laboratories announced today that the Food and Drug Administration (FDA) has filed ARUP’s premarket approval application (PMA) for an AAV5 total antibody assay.

In collaboration with ARUP Laboratories’ genomic scientists and bioinformatitians, University of Utah Health announced a project with the goal of accurately detecting genetic disorders among newborns.

Medical Director: Biochemical Genetics and Newborn Screening Education Doctorate Degree—Pharmaceutical Chemistry and Technology, University of Parma School of Pharmacy Doctorate Degree—Pharmacy, University of Parma School of Pharmacy Fellowship—Chemistry, Emory University Fellowship—…

Professor, University of Utah School of Medicine

Medical Director: Biochemical Genetics and Newborn Screening