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HelpTest ID UBA1Q UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies
Ordering Guidance
This test is intended for patients with clinical symptoms and other pertinent laboratory findings raising concern for VEXAS syndrome. These may include, but are not limited to, systemic or localized (eg, ear, orbital, skin) tissue inflammation presenting as rheumatologic disease, abnormal (usually low) whole blood counts, macrocytic anemia, characteristic microscopic changes in the bone marrow, as well as others.
Shipping Instructions
1. Both refrigerated and ambient specimens must arrive within 7 days of collection.
2. Collect and package specimen as close to shipping time as possible.
Necessary Information
The following information is required:
1. Pertinent clinical history
2. Date of collection
3. Specimen source (blood or bone marrow)
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD-B) or green top (heparin)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Specimen Stability: Refrigerated 7 days/Ambient 7 days
Specimen Type: Bone marrow aspirate
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD-B) or green top (heparin)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send bone marrow specimen in original tube. Do not aliquot.
3. Label specimen as bone marrow.
Specimen Stability: Refrigerated 7 days/Ambient 7 days
Specimen Type: Extracted DNA from blood or bone marrow
Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of DNA
Specimen Volume: Entire specimen
Collection Instructions:
1. Label specimen as extracted DNA and source of specimen
2. Indicate volume and concentration of DNA on label. The required volume of DNA is at least 50 mcL at a concentration of 50 ng/mcL
Specimen Stability: Frozen (preferred)/Refrigerated
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Useful For
Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome
Special Instructions
Method Name
Droplet Digital Polymerase Chain Reaction
Reporting Name
UBA1 Mutation, Quant, ddPCR, VSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 4 mL
Bone marrow: 2 mL
Extracted DNA: 50 mcL at 50 ng/mcL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Refrigerated (preferred) | 7 days | |
| Ambient | 7 days |
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Saturday
Report Available
4 to 8 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| UBA1Q | UBA1 Mutation, Quant, ddPCR, V | 104268-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MP086 | Specimen Type | 31208-2 |
| 620938 | Interpretation | 59465-5 |
| 620939 | Signing Pathologist | 19139-5 |