UBA1 Mutation Detection by ddPCR for VEXAS Syndrome Bone Marrow
Test Mnemonic
UBA1M
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 |
|---|---|---|---|---|---|
| 2 mL | Bone marrow | EDTA (Lavender) | Ambient | Ambient | Aliquots are not accepted. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 0.5 mL | Aliquots are not accepted. |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | Bone marrow-up to 48 hours |
| Refrigerated | Bone marrow-up to 7 days |
| Frozen | Bone marrow-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.