UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies

Casandra

Casandra Test Code MC39421Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID UBA1QCPT Code 81403

UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies

Clinical Use

Use

This test is used for the identification of pathogenic variants in the UBA1 gene in patients who present with symptoms consistent with VEXAS (vacuoles, E1-enzyme, X-linked, autoinflammatory, somatic) syndrome. The detection of UBA1 mutation is essential for diagnosing this syndrome, which often entails aggressive inflammatory conditions and could lead to myelodysplastic syndrome or other hematologic neoplasms. The droplet digital polymerase chain reaction assay employed offers improved sensitivity over other methodologies.

Special Instructions

This test is suitable for patients showing clinical symptoms together with laboratory findings suggestive of VEXAS syndrome. Pertinent clinical history, date of collection, and specimen source (blood or bone marrow) are required information before testing.

Limitations

This assay detects seven specific somatic mutations in the UBA1 gene and does not identify potential UBA1 variants outside these targets. The absence of detected UBA1 mutation does not exclude other causes of inflammatory disorders or clonal myeloid processes. Cases with a very low mutation burden might not be identified due to detection limits.

Test Details

New York Approved