Advancing the diagnosis of hematologic disorders

PACE / State of FLThis month’s “Virtual Lecture” discusses the clinical diagnosis and management, summarizes the testing modalities that guide diagnosis and management, and recognizes the utility of genetic testing as it relates to complement testing in diagnosing and managing thrombotic microangiopathy.

VEXAS syndrome is a severe autoinflammatory disease that results in a spectrum of rheumatologic and hematologic conditions. The underlying cause of newly identified VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome — somatic mutations in the UBA1 gene of blood cells — was discovered at the National Institutes of Health (NIH) in 2020. Within six months, Mayo Clinic Laboratories was able to add a UBA1 test to the MayoComplete panel, as the team simultaneously worked on a single gene assay to allow doctors to test specifically for UBA1 mutations to screen patients for VEXAS syndrome. The team opted for a droplet digital PCR test — a novel and highly accurate approach to testing for UBA1 gene mutations.

In this month's "Hot Topic," David Murray, M.D., Ph.D., reviews the role of urine testing for monoclonal gammopathies and discusses Mayo Clinic’s use of MASS-FIX to replace traditional immunofixation testing.

In this test-specific episode of the "Answers From the Lab" podcast, Rong He, M.D., explains how Mayo Clinic Laboratories' IDHQ test improves upon next generation sequencing for assessing AML treatment options.

William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, joins "Answers From the Lab" for his weekly leadership update with host Bobbi Pritt, M.D., interim chair of the Department of Laboratory Medicine and Pathology at Mayo Clinic. In this episode, Dr. Pritt and Dr. Morice discuss their new roles at Mayo Clinic and update listeners on the latest legislative news impacting the laboratory and diagnostic industries. They also highlight the launch of MayoComplete, Mayo Clinic Laboratories’ robust suite of oncology and hematology testing that uses next-generation sequencing to identify and evaluate presence of mutations.

Utilizing testing capabilities of two separate laboratory facilities, Mayo Clinic Laboratories’ new serotonin release assay (SRA) is a gold-standard test supported by decades of clinical hematopathologic experience and advanced mass spectrometry testing.

In this month's "Hot Topic," David Viswanatha, M.D., discusses updates to Mayo Clinic's next-generation sequencing (NGS) for myeloid neoplasm evaluation, involving new test targets, the rationale for new genetic regions, alignments with the World Health Organization (WHO) guidelines and germline predisposition targets.

Kenneth Hobby assumed his fever, fatigue, and aching pains in May 2018 were from another bout of malaria. He was on one of his frequent visits to Zambia in southern Africa, where the mosquito-borne parasite is common. But anti-malaria drugs didn't help, and soon Kenneth had such disabling pain that he could barely walk.

Rong He, M.D., describes how Mayo Clinic Laboratories’ NPM1Q assay detects all known forms of a genetic mutation found in about 30% of people with acute myeloid leukemia, or AML. Identifying the NPM1 mutation is critical for clinical decision-making.

Rajiv Pruthi, M.B.B.S., explains how Mayo Clinic Laboratories’ serotonin release assay achieves high sensitivity and specificity while avoiding the use of radioactive materials. Serotonin release testing is an important tool in the diagnosis of heparin induced thrombocytopenia, or HIT, which can have devastating consequences for patients.

In this month's "Hot Topic," Rajiv Pruthi, M.B.B.S., discusses heparin induced thrombocytopenia (HIT), approach diagnosis, and the role of the functional serotonin release assay (SRA).

In a world of ever-faster technical change, Mayo Clinic Laboratories is uniquely positioned to innovate. Collaboration with clinicians pinpoints unmet patient needs and facilitates the development of diagnostic testing that provides answers.