NGS Panel - Solid Tumor - GIST: BRAF,KIT,PDGFRA
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GIST
Synonyms
- companion test
- NGS
- oncology
- solid tumor
- targeted therapy
Specialty
Genetics
Clinical significance
Testing for KIT, PDGFRA and BRAF mutations thus has diagnostic and/or prognostic and/or theranostic value.
Preanalytics
- Tumoral block included in paraffin or slides (6 slides 5µm) or DNA extract or Shavings (6 shavings of 5 µm)
- Ambient temperature
- A tube specifically for this analysis : No
Further information
Use the specific request form B9-INTGB: Oncology-Solid tumors
The use of the S25UK transport bag is Mandatory.
Attach the anatomopathological report
Specific equipment available
- S25 : Envelope Genetics and Molecular Oncology
Documents to download
Methodology
Search for variants on a targeted gene panel using high-throughput sequencing. Library preparation: Library Preparation Enzymatic Fragmentation Kit 2.0 Twist with UMI Capture-based enrichment (custom panel) Sequencing: NovaSeq Illumina (2x150bp) Bioinformatic analysis: Demultiplexing with BCLconvert / SeqOne SomaVar v2.7 RUO Theoretical detection threshold: 5% Minimum depth: 99% coverage at 200X (after UMI analysis) for Level I and II genes relevant to the indication, according to the 2024 ESMO recommendations (PMID: 38834388). >95% coverage at 200X for all other genes. Genome version: GRCh38
Turnaround time
15 days
Biomnis Lyon