The Cancer Genetics and Genomics Laboratory (CGL) at BC Cancer will be offering Next Generation Sequencing (NGS) based UBA1 mutation testing for patients with suspected VEXAS* syndrome.
Individuals who are suspected to have VEXAS syndrome based on a combination of clinical and morphologic criteria are eligible for testing, as determined by a hematologist, rheumatologist, and/or hematopathologist.
This NGS test enables the accurate assessment of genomic variants (SNVs and small indels only) over the entire coding region of UBA1. Further details of the methods can be found here.
UBA1 Mutation Testing can be ordered using the CGL Myeloid Requisition found on our Requisitions page. Additional information can be found in our memo.
*VEXAS: Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic