VEXAS (UBA1 genotyping)

Testing Laboratory

Department

Immunology

Delphic Registration Code (Alpha Code)

PPID

Test Code (Numeric Code)

7831

Laboratory Handling

Transport

Ambient

Laboratory

LabPlus Molecular Immunology

Sample Stability

5 days at 4°C

Synonyms

VEXAS (Vacuoles, E1 Enzyme, X-linked, Auto-inflammatory, Somatic) Met41 Variant Testing
VEXAS
UBA1

Turnaround Time

2 weeks

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4

Minimum Sample Volume (ml)

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4

Minimum Sample Volume (ml)

1

Aliquot Instructions

Sample Type

• Whole Blood

Minimum Volume (ml)

1

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Test Method

Droplet digital PCR (ddPCR) and Sanger sequencing

ddPCR targets the common somatic variants: c.121A>G (p.M41V), c.121A>C (p.M41L) and c.122T>C (p.M41T). Sanger sequencing is performed for exons 3, 14, and 16 to identify other somatic mutations

Limitations / Interference

Limits of detection: ddPCR 0.1%, Sanger sequencing 10-20%

Resources

• Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

Contact Information