Test Information

ARUP Consult^®, a free source of laboratory testing information for clinicians, released several new and updated resources in March.

ARUP Associate Medical Director Steven Baker, MD, PhD, will lead research that aims to determine whether gene therapies can be developed to treat patients living with creatine transporter deficiency (CTD).

Rong Mao, MD, FACMG, has been elected to the American College of Medical Genetics and Genomics (ACMG) Foundation board of directors. Her two-year term will begin with the ACMG annual meeting on March 14, 2023.

ARUP Consult^®, a free source of laboratory testing information for clinicians, released new and updated resources in February.

Ethan Bruns (left), a University of Utah biology student living with atypical hemolytic uremic syndrome, joined ARUP CEO Andy Theurer at a Rare Disease Day event in Salt Lake City on Tuesday, February 28, to raise awareness and highlight progress in the diagnosis and treatment of rare disease.

Stewart and Becky Tribe, shown here with their 2-year-old son Woodward and their 5-year-old daughter Linden, say their family benefitted greatly from newborn screening that led to their son’s early GAMT deficiency diagnosis. Woody, as he is called, has taken supplements since his birth that have prevented cognitive impairments he might have developed if the disorder had not been detected in infancy.