Hematology – Featured

David S. Viswanatha, M.D., explains how Mayo Clinic Laboratories' new assay provides rapid, definitive diagnosis of VEXAS, a recently identified syndrome affecting older men. Early diagnosis is key to managing the syndrome, which severely impacts multiple organs and blood.

David Murray, M.D., Ph.D., explains how Mayo Clinic Laboratories' MASS-FIX Quantitation assay provides next-generation screening for M-proteins, which are associated with multiple myeloma and other diseases. The assay better quantitates the blood proteins, for improved patient care and simpler test ordering.

On the brink of losing her battle with acute myeloid leukemia, Shannon Camlek arrived at Mayo Clinic as a last hope. Her chances didn’t look good, but with the help of specialized genetic testing, particularly FISH (fluorescence in situ hybridization) studies, doctors were able to detect the specific gene mutations responsible for her symptoms and disease. The test results also helped Shannon’s care team target her treatment accordingly, and finally put an end to what Shannon likens as starring in her own personal horror movie while in search of hope and healing.

In a recent discovery by Mayo Clinic Laboratories, a novel hemoglobinopathy category was identified and termed epsilon gamma thalassemia. The first instance of the disorder was found in 2017 when an obstetric patient underwent a routine screening for blood-related illnesses such as sickle cell disease and thalassemia. Upon completion of additional tests, doctors found an abnormality they had never seen before.

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.