ARUP’s Biochemical Genetics lab performs critical, complex testing to diagnose and monitor metabolic disorders. Every person in the laboratory plays a role in promptly delivering thorough results.
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).
Drawing on ARUP experts' extensive knowledge about the diagnosis and treatment of cerebral creatine deficiency syndromes, a new initiative seeks answers for those with creatine transporter deficiency.
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.
Rong Mao, MD, FACMG, looks forward to bridging the gap between laboratory and clinical practice after her recent election to the ACMGF board of directors, and will present at the ACMG meeting.
ARUP Consult®, a free source of laboratory testing information for clinicians, released new and updated resources in February.
ARUP Consult, a free source of expert guidance in laboratory testing, has released updated resources on complement deficiency testing, hereditary cancer assessment, and rapid whole genome sequencing.
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.
In closing remarks at a Rare Disease Day event, ARUP CEO Andy Theurer thanked young people sharing their stories for inspiring the laboratory scientists who are working to improve diagnosis.
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.
The addition of GAMT deficiency to the federal Recommended Uniform Screening Panel is an important milestone for ARUP medical directors and a Utah mom who say the change will improve lives.
ARUP Consult®, a free source of laboratory testing information for clinicians, released several new and updated resources in January.
ARUP Consult, a free source of expert guidance in laboratory testing, has updated resources on testing for bariatric surgery, respiratory viruses, and alpha-1-antitrypsin deficiency.
Pinar Bayrak-Toydemir, MD, PhD, FACMG (left), and Rong Mao, MD, FACMG (right), medical directors of Molecular Genetics and Genomics, lend their expertise to the diagnosis of rare childhood disorders through the Utah NeoSeq Project.
A $3.6 million gift from the Miller family will enable University of Utah Health and ARUP to expand and refine testing for rare genetic disorders through the Utah NeoSeq Project.
ARUP Consult®, a free source of laboratory testing information for clinicians, released user experience (UX) upgrades to Consult topic pages and created a new genetics homepage in September.
In September, ARUP Consult, a free informative resource in laboratory testing, released new user experience (UX) upgrades and updated several topics, including acute lymphoblastic leukemia.
These images depict the distinct genetic profiles found in patients with pathogenic germline DDX41 variants and variants of unknown significance (VUSs).
New Research From ARUP and Others Provides Diagnostic Guidance on DDX41-Associated Myeloid Neoplasms
New research published in Blood sheds light on diagnosis, disease characteristics, and prognoses for inherited hematologic malignancies associated with DDX41 germline variants.
ARUP Consult®, a free source of laboratory testing information for clinicians, released several new and updated resources in July.
ARUP Consult Provides New and Updated Resources on Monkeypox, HLA Testing, and Aldosterone-Renin Ratio
ARUP Consult, a free source of expert guidance in laboratory testing, offers valuable information on relevant topics from monkeypox to HLA testing and more.
ARUP medical directors and scientists will share their research and expertise in areas like lab stewardship, biochemical genetics, and neonatal drug testing at AACC’s 2022 annual meeting in Chicago.