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.

Assistant Professor (Clinical), University of Utah School of Medicine Specialties Hematopathology Molecular genetic pathology Education Medical Degree—Bogomolets National Medical University Doctorate Degree—University of Utah Residency—Anatomical and Clinical Pathology, University of…

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