Furthermore, our assay did not target minor UBA1 variants outside the methionine-41 codon, such as splice site mutations, which account for approximately 4–7% of VEXAS syndrome cases.8,12,13,15,49–53 Future improvements may include multiplexing with multiple fluorochromes and additional targets or incorporating digital PCR from the initial diagnostic stage. Here, UBA1 is linked to VEXAS syndrome.