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 mL | Whole blood | EDTA (Lavender) | Refrigerated |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 10 mL | Bone marrow | EDTA (Lavender) | Refrigerated | Requisition and Pathology report MUST accompany sample. | |
| 10 mL | Whole blood | ACD A or B (Yellow) | Refrigerated | ||
| 10 mL | Bone marrow | ACD A or B (Yellow) | Refrigerated | Requisition and Pathology report MUST accompany sample. | |
| One | Block, Formalin fixed paraffin | Refrigerated | Requisition and Pathology report MUST accompany sample. | ||
| 10 | Slide (s), unstained | Refrigerated | 4-5 microns. Requisition and Pathology report MUST accompany sample. | ||
| Unspecified | Tissue, fresh | RPMI | Refrigerated | Requisition and Pathology report MUST accompany sample. | |
| Unspecified | Tissue, fresh | Saline | Ambient | Requisition and Pathology report MUST accompany sample. | |
| Unspecified | Tissue, frozen | Frozen | Ship on dry ice. Requisition and Pathology report MUST accompany sample. | ||
| 200 ng | Extracted DNA | Sterile container | Minimum of 10 ng/µL. 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 |
|---|---|
| Refrigerated | Whole blood, Bone marrow, Tissue block, Slides: 7 days |
| Frozen | Frozen tissue: Acceptable |
| Ambient | Fresh 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 all samples except blood. 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.