UBA1 Mutation Detection by ddPCR for VEXAS Syndrome Blood
Test Mnemonic
UBA1
CPT Codes
- 81403 - QTY (1)
Aliases
- VEXAS Syndrome
Includes
- UBA1 Mutation
Performing Laboratory
Cleveland Clinic Laboratories
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 4 mL | Whole blood | EDTA (Lavender) | Ambient | Ambient | Aliquots are not accepted. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 1 mL | Aliquots are not accepted. |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | Whole blood and bone marrow for 48 hours, FFPE tissue indefinitely |
| Refrigerated | Whole blood and bone marrow up to 7 days, FFPE tissue indefinitely |
| Frozen | Unacceptable |
Days Performed
1 day per week
Turnaround Time
7 days
Methodology
| Name | Description |
|---|---|
| Droplet Digital Polymerase Chain Reaction (PCR) |
Special Info
Aliquots are not accepted.
Clinical Info
This assay uses Droplet Digital PCR to detect seven mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene that cause VEXAS syndrome.