UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies
Use
This test is used for the identification of pathogenic variants in the UBA1 gene in patients who present with symptoms consistent with VEXAS (vacuoles, E1-enzyme, X-linked, autoinflammatory, somatic) syndrome. The detection of UBA1 mutation is essential for diagnosing this syndrome, which often entails aggressive inflammatory conditions and could lead to myelodysplastic syndrome or other hematologic neoplasms. The droplet digital polymerase chain reaction assay employed offers improved sensitivity over other methodologies.
Special Instructions
Not provided.
Limitations
This assay detects seven specific somatic mutations in the UBA1 gene and does not identify potential UBA1 variants outside these targets. The absence of detected UBA1 mutation does not exclude other causes of inflammatory disorders or clonal myeloid processes. Cases with a very low mutation burden might not be identified due to detection limits.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
UBA1
Gene
LOINC Codes
- 104268-8 - UBA1 mut Spec
- 31208-2 - Specimen source
- 59465-5 - Path Rev
- 19139-5 - Pathologist name
Result Turnaround Time
4-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
4 mL
Container
Lavender top (EDTA), Yellow top (ACD-B) or green top (heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Label specimen as blood.
Causes for Rejection
Gross hemolysis, Moderately to severely clotted
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |