Eurofins Biomnis code

UBA1

Clinic significance

The UBA1 NGS panel offers mutational analysis of the UBA1 gene associated with the VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome in which myelodysplastic syndromes are reported. It can therefore be supplemented by the NGS-MD panel.

Prenalytics

• 2 x 5 ml EDTA whole blood or 2 ml EDTA bone marrow or DNA extracted : (200ng of DNA minimum)
• Ambient temperature

Further information

• Attach:
  - the results of the FBC - platelets
  - the bone marrow report
• Samples to be collected from Monday to Friday
• Sample must be refrigerated if transport is > 48 hours
• Use the specific request form B8-INTGB: Malignant blood disorders

Documents to download

• Specific Request Form (B8-INTGB)
• Panel form (DS72-INTGB-MSD)

Methodology

Method: Targeted sequencing of genes (NGS). - Library: Library Preparation Enzymatic Fragmentation Kit 2.0 Twist - NGS Platform: NovaSeq Illumina (2x150pb) - paired-end sequencing - Analysis software: Demultiplexage BCLconvert V3.10.5 / VarSome Pipeline version 11.8 (CE-IVD)

Turnaround time

10 days (Results may require an extended turnaround time, one week, depending on the confirmation tests required by Sanger sequencing)