| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
UBA1Q is a quantitative droplet digital polymerase chain reaction (ddPCR) assay that targets seven possible mutations that can occur in the UBA1 gene and help identify VEXAS syndrome.
Diagnosing patients with VEXAS syndrome has been a challenge due to its recent discovery, limited testing availability, and wide range of symptoms. But our novel UBA1Q assay is helping clinicians achieve an accurate diagnosis and effective treatment plan more quickly.
VEXAS syndrome Test menu
This quantitative droplet digital polymerase chain reaction (ddPCR) assay targets seven possible mutations that can occur in the UBA1 gene. UBA1 mutations are responsible for VEXAS (vacuoles, E1-enzyme, X-linked, autoinflammatory, somatic) syndrome, which is a variably aggressive inflammatory condition. Patients can present with a variety of conditions including skin inflammation, generalized inflammation mimicking moderate to severe arthritic disorders, features of vasculitis, or localized presentations involving periorbital or ear inflammation with swelling. In addition, a substantial number of patients can present with peripheral blood cytopenias. Detection of UBA1 mutation is critical for diagnosing VEXAS syndrome and allows clinicians to better optimize therapeutic management for their patients.
Additional information
VEXAS syndrome describes a set of autoimmune and inflammatory clinical disease presentations. Patients present with a variety of conditions including skin inflammation, which can resemble a condition called Sweet syndrome, generalized inflammatory disease mimicking moderate to severe arthritic disorders, features of vasculitis, respiratory symptoms with radiologic abnormalities, or localized presentations involving periorbital or ear inflammation with edema. In addition, a substantial number of patients present with peripheral blood cytopenias, typically with red cell macrocytosis or macrocytic anemia on bone marrow biopsy.
Key testing
Highlights
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.
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.