Assay provides quick diagnosis of VEXAS syndrome

Answers from the Lab

Early diagnosis is vital for patients with VEXAS syndrome, which severely impacts multiple organs and blood. In this test-specific episode of the "Answers From the Lab" podcast, David S. Viswanatha, M.D., explains how Mayo Clinic Laboratories' new assay identifies UBA1 gene mutations, for definitive diagnosis of this recently identified syndrome.

"It is very challenging to make a diagnosis of VEXAS syndrome without doing the UBA1 gene mutation test," Dr. Viswanatha says. "These patients — almost exclusively men over age 50 — are usually quite ill. UBA1 mutation testing thus should be considered as part of the initial diagnostic evaluation."

Mayo Clinic Laboratories uses a quantitative droplet digital PCR, or quantitative ddPCR assay to target the seven UBA1 mutations known to cause VEXAS syndrome. The quantitative assay can provide residual disease monitoring for treated patients as well as initial diagnosis. Alternative testing methods are less precise, or technically more complex and take longer to return results.

"For rapid screening of the currently identified UBA1 gene mutations in VEXAS syndrome, UBA1Q assay obtains excellent sensitivity and is a very attractive choice," Dr. Viswanatha says.

Listen to learn more about Mayo Clinic Laboratories' UBA1Q assay.

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Barbara J. Toman

Barbara J. Toman is a Senior Communications Specialist at Mayo Clinic Laboratories. She is also the science writer for Mayo’s Neurosciences Update newsletter, which helps referring physicians to stay informed about Mayo’s treatment and research. Barbara has worked at Mayo Clinic since 2007. She enjoys international travel and cooking.