Our approach to myelodysplastic syndrome (MDS) testing utilizes comprehensive fluorescence in situ hybridization (FISH) panels to detect for genetic biomarkers associated with disease severity, progression, and treatment response. Because all MDS testing at Mayo Clinic Laboratories is performed at one facility, the need for splitting patient samples or submitting multiple samples is diminished, while continuity of care is enhanced.
Myelodysplastic syndrome Test menu
For patients affected by MDS, the need for ongoing testing is of vital importance for disease management and is recommended by both the National Comprehensive Cancer Network (NCCN) and the World Health Organization (WHO). Because treatment decisions are often based on illness severity, advanced testing can aid in diagnosis, disease monitoring, and treatment management in patients with MDS.
Key testing
Additional testing
Highlights
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.