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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.
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, 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 expert guidance in laboratory testing, has released updated resources on complement deficiency testing, hereditary cancer assessment, and rapid whole genome sequencing.
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.
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 expert guidance in laboratory testing, has updated resources on testing for bariatric surgery, respiratory viruses, and alpha-1-antitrypsin deficiency.
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.
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.
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 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.
