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Other tumours: Biomarkers panel for Solid Tumors by NGS

Speciality(ies) / Other Speciality(ies)

Oncology

Pathology

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

Test / Mutation List

Mutations (Hotspots – 35 genes): AKT1; ALK; AR; BRAF; CDK4; CTNNB1; DDR2; EGFR; ERBB2 (HER2); ERBB3 (HER3); ERBB4 (HER4); ESR1; FGFR2; FGFR3; GNA11; GNAQ; HRAS; IDH1; IDH2; JAK1; JAK2; JAK3; KIT; KRAS; MAP2K1 (MEK1); MAP2K2 (MEK2); MET; MTOR; NRAS; PDGFRA; PIK3CA; RAF1; RET; ROS1; SMO
Fusion drivers (23 genes): ABL1; AKT3; ALK; AXL; BRAF; EGFR; EGFRvIII; ERBB2 (HER2); ERG; ETV1; ETV4; ETV5; FGFR1; FGFR2; FGFR3; MET; NTRK1; NTRK2; NTRK3; PDGFRA; PPARG; RAF1; RET; ROS1
CNVs (19 genes): AKT1; ALK; AR; BRAF; CCND1; CDK4; CDK6; EGFR; ERBB2 (HER2); FGFR1; FGFR2; FGFR3; FGFR4; KIT; KRAS; MET; MYC; MYCN; PDGFRA; PIK3CA
(To proceed with CNVs analysis it is necessary the percentage of neoplastic cells in the sample)

TAT

15 to 20 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT)
(6×20μm sections or tissue block or cellblock, with a fresh H&E slide)
or
Cytological sample in collection medium; stable for 4-6 weeks