UBA1 Mutation Testing for VEXAS Syndrome




Test Mnemonic

VEXAS

CPT Codes

  • 81403 - QTY (1)

Includes

  • UBA1 mutation

Performing Laboratory

Knight Diagnostic Laboratories


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
10 mLWhole bloodEDTA (Lavender) RefrigeratedRequisition and Pathology report MUST accompany sample.

Alternate Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
10 mLBone marrowEDTA (Lavender) RefrigeratedRequisition and Pathology report MUST accompany sample.
10 mLWhole bloodACD A or B (Yellow) RefrigeratedRequisition and Pathology report MUST accompany sample.
10 mLBone marrowACD A or B (Yellow) RefrigeratedRequisition and Pathology report MUST accompany sample.
OneBlock, Formalin fixed paraffin  RefrigeratedRequisition and Pathology report MUST accompany sample.
10Slide (s), unstained  Refrigerated4-5 microns. Requisition and Pathology report MUST accompany sample.
UnspecifiedTissue, freshRPMI RefrigeratedRequisition and Pathology report MUST accompany sample.
UnspecifiedTissue, freshSaline AmbientRequisition and Pathology report MUST accompany sample.
UnspecifiedTissue, frozen  FrozenShip on dry ice. Requisition and Pathology report MUST accompany sample.
200 ngExtracted DNASterile container  Minimum of 10 ng/┬ÁL. Requisition and Pathology report MUST accompany sample.

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
5 mL    Whole blood or Bone marrow

Stability

Environmental Condition Description
RefrigeratedWhole blood, Bone marrow, Tissue block, Slides: 7 days
FrozenFrozen tissue: Acceptable
AmbientFresh tissue: Acceptable

Days Performed

Once per week

Turnaround Time

2 - 3 weeks

Methodology

Name Description
Next Generation DNA Sequencing 

Special Info

Requisition and Pathology report MUST accompany sample. Ship FedEx priority overnight Monday through Friday (mark Saturday delivery when shipping on Friday).

Clinical Info

UBA1 mutations are responsible for VEXAS (vacuoles, E1-enzyme, X-linked, autoinflammatory, somatic) syndrome. Testing should be considered in men aged >50 years with refractory autoimmune disorders and cytopenias of unknown etiology. Testing of women and patients aged <50 years may be considered after exclusion of more likely conditions.