UBA1 Mutation Detection by ddPCR for VEXAS Syndrome Other
Test Mnemonic
UBA1O
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 |
|---|---|---|---|---|---|
| 10 mm square | Paraffin block | Clean container | Ambient | Ambient | Paraffin- embedded tissue should be delivered to Anatomic Pathology for accessioning and cutting. Specimens that undergo heavy metal fixation or are decalcified with strong acids (i.e., formic acid) are not acceptable for molecular testing. Non-decalcified specimens or samples that undergo EDTA decalcification are acceptable. |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | Paraffin-embedded tissue- indefinitely |
| Refrigerated | Paraffin-embedded tissue-unacceptable |
| Frozen | Paraffin-embedded tissue- unacceptable |
Days Performed
1 day per week
Turnaround Time
7 days
Methodology
| Name | Description |
|---|---|
| Droplet Digital Polymerase Chain Reaction (PCR) |
Special Info
Paraffin-embedded clots should be delivered to Anatomic Pathology for accessioning and cutting.
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.