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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 allow a correct CNV analysis the percentage of neoplastic cells in the sample should be higher than a 50%)

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