Skupina
2. Next generation sequencing (NGS) - kompletní seznam genů a jejich analýz
NázevMetody/geny/organismyPoznámka
Hereditary Cancer Solution (Sophia Genetics) zárodečné mutace
mutace APC, ATM, BARD1, BRAF, BRCA1, BRCA2, BRIP1, CDH1, EGFR, EPCAM, FAM175A, CHEK2, KRAS, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NRAS, PALB2, PIK3CA, PMS2, PMS2CL, PTEN, RAD50, RAD51D, STK11, TP53, XRCC2
Human Comprehensive Cancer panel (Qiagen) somatické mutace, zárodečné mutace
mutace ABL1, ACVR1B, AKT1, AKT2, AKT3, ALK, AMER1, APC, AR, ARAF, ARID1A, ARID1B, ARID2, ASXL1, ATM, ATR, ATRX, AURKA, AURKB, AURKC, AXIN1, AXIN2, B2M, BAP1, BCL2, BCL2L1, BCL6, BCOR, BCORL1, BCR, BIRC3, BLM, BRAF, BRCA1, BRCA2, BRIP1, BTK, CALR, CARD11, CBL, CBLB, CBLC, CCND1, CCND3, CCNE1, CD274, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDKN2A, CDKN2B, CDKN2C, CEBPA, CIC, CREBBP, CRLF2, CSF1R, CSF3R, CTCF, CTNNA1, CTNNB1, CUX1, CXCR4, CYLD, DAXX, DDR2, DICER1, DNM2, DNMT3A, DOT1L, EED, EGFR, EGLN1, EP300, EPAS1, EPHA3, EPHA5, ERBB2, ERBB3, ERBB4, ERG, ESR1, ETV6, EXO1, EZH2, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FAS, FBXW7, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLT3, FLT4, FOXL2, FUBP1, GALNT12, GATA1, GATA2, GATA3, GEN1, GNA11, GNAQ, GNAS, GREM1, GRIN2A, H3F3A, HGF, HIST1H3B, HNF1A, HOXB13, HRAS, HSP90AA1, CHEK1, CHEK2, ID3, IDH1, IDH2, IGF1R, IKZF1, IKZF3, IL7R, INHBA, IRF4, JAK1, JAK2, JAK3, KAT6A, KDM5C, KDM6A, KDR, KEAP1, KIT, KMT2A, KMT2B, KMT2C, KMT2D, KRAS, LRP1B, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K14, MAPK1, MCL1, MDM2, MDM4, MED12, MEF2B, MEN1, MET, MITF, MLH1, MPL, MRE11A, MSH2, MSH6, MTOR, MUTYH, MYC, MYCL, MYCN, MYD88, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NOTCH1, NOTCH2, NOTCH3, NPM1, NRAS, NSD1, NTRK1, NTRK2, NTRK3, PAK3, PALB2, PAX5, PBRM1, PDGFRA, PDGFRB, PHF6, PIK3CA, PIK3R1, PIK3R2, PIM1, PLCG1, PMS1, PMS2, POLD1, POLE, PPM1D, PPP2R1A, PRDM1, PRKAR1A, PRKDC, PRSS1, PTEN, PTCH1, PTPN11, RAC1, RAD21, RAD50, RAD51, RAF1, RB1, RET, RHEB, RHOA, RIT1, RNF43, ROS1, RUNX1, SC2, SDHB, SETBP1, SETD2, SF3B1, SMAD2, SMAD4, SMARCA4, SMARCB1, SMC1A, SMC3, SMO, SOCS1, SOX2T, SOX9, SPOP, SRC, SRSF2, STAG2, STAT3, STK11, SUFU, SUZ12, TAL1, TCF3, TERT, TET2, TGFBR2, TNFAIP3, TNFRSF14, TP53, TRAF3, TSC1, TSHR, U2AF1, U2AF2, VHL, WHSC1, WT1, XPO1, XRCC2, XRCC3, ZNF217, ZRSR2
The Archer® FusionPlex® Solid Tumor Kit somatické mutace
fúze AKT3, ALK, ARHGAP26, AXL, BRD3, BRD4, EGFR, EGFR, ERG, ESR1, ETV1, ETV4, ETV5, ETV6, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGR, INSR, MAML2, MAST1, MAST2, MET, MSMB, MUSK, MYB, NOTCH1, NOTCH2, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PDGFRA, PDGFRB, PIK3CA, PKN1, PPARG, PRKCA, PRKCB, RAF1, RELA, RET, ROS1, RSPO2, RSPO3, TERT, TFE3, TFEB, THADA, TMPRSS2
mutace BRAF, EGFR, MET, PDGFRA analytická sensitivita 5%
The Archer® FusionPlex® Lymphoma Kit somatické mutace
fúze ALK, BCL2, BCL6, BCR, BIRC3, CBFB, CCND1, CCND3, CDK6, CHIC2, CIITA, CREBBP, DEK, DUSP22, EIF4A1, ETV6, FGFR1, JAK2, KMT2A, MALT1, MKL1, MLF1, MLLT10, MYC, NFKB2, NOTCH1, P2RY8, PDCD1LG2, PDGFRA, PRDM16, STIL, TCF3, TP63
mutace AKT3, ALK, BAX, BCL2, BIRC3, BRAF, BTK, CARD11, CCND1, CD79B, CREBBP, DNMT3A, ETV6, EZH2, FBXW7, IDH1, IDH2, JAK1, JAK2, JAK3, KRAS, MYD88, NOTCH1, NOTCH2, NRAS, PDGFRA, PLCG1, PLCG2, RHOA, SF3B1, STAT3, STAT5B, STAT6, WT1, XPO1 analytická sensitivita 5%
exprese E2F2, ENTPD1, EXOC2, FAM216A, FOXP1, FUT8, IL16, IRF4, IRF8, ITPKB, KIAA0101, LIMD1, LMO2, LRMP, LZTS1, MAL, MAML3, MME, MUC1, MYBL1, MYC, NEK6, NFKB1, NME1, PAICS, PDCD1, PDCD1LG2, PIM1, PIM2, PPAT, PRKAR2B, PTPN1, PYCR1, RAB29, RAG1, RAG2, RANBP1, S1PR2, SERPINA9, SH3BP5, STRBP, TNFRSF13B, TNFSF4, WT1
sestřih NOTCH1
The Archer® FusionPlex® Comprehensive Thyroid & Lung Kit somatické mutace
fúze ALK, AXL, BRAF, BRAF, CCND1, FGFR1, FGFR2, FGFR3, MET, NRG1, NTRK1, NTRK2, NTRK3, PPARG, RAF1, RET, ROS1, THADA
mutace AKT1, ALK, AXL, BRAF, CTNNB1, DDR2, EGFR, ERBB2, GNAS, HRAS, IDH1, IDH2, KRAS, MAP2K1, NRAS, PIK3CA, RET, ROS1, EGFR, MET analytická sensitivita 5%
exprese ALK, AXL, BRAF, CCND1, EGFR, FGFR1, FGFR2, FGFR3, MET, NTRK1, NTRK2, NTRK3, RET, ROS1, THADA, CALC, KRT20, KRT7, PTH, SLC5A5, TTF1
The Archer® FusionPlex® Sarcoma kit somatické mutace
fúze ALK, BCOR,CAMTA1, CCNB3, CIC, EPC1, EWSR1, FOXO1, FUS, GLI1, HMGA2, JAZF1, MEAF6, MKL2, NCOA2, NTRK3, PDGFB, PLAG1, ROS1, SS18, STAT6, TAF15, TCF12, TFE3, TFG, USP6, YWHAE
The Archer VariantPlex™ Solid Tumor Kit somatické mutace
mutace ABL1, AKT1, ALK, APC, ATM, AURKA, BRAF, CCND1, CCNE1, CDH1, CDK4, CDKN2A, CSF1R, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ESR1, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, FOXL2, GNA11, GNAQ, GNAS, H3F3A, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MAP2K1, MDM2, MET, MLH1, MPL, MYC, MYCN, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PIK3R1, PTEN, PTPN11, RB1, RET, RHOA, ROS1, SMAD4, SMARCB1, SMO, SRC, STK11, TERT, TP53, VHL analytická sensitivita 5%
The Archer VariantPlex™ Core Myeloid Kit somatické mutace
mutace ABL1, ANKRD26, ASXL1, BCOR, BRAF, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, PHF6, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2 analytická sensitivita 5%
True Sight Tumor 170 Kit (Illumina) somatické mutace
mutace AKT1, AKT2, AKT3, ALK, APC, AR, ARID1A, ATM, ATR, BAP1, BARD1, BCL2, BCL6, BRAF, BRCA1, BRCA2, BRIP1, BTK, CARD11, CCND1, CCND2, CCNE1, CD79A, CD79B, CDH1, CDK12, CDK4, CDK6, CDKN2A, CEBPA, CREBBP, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR, EP300, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERG, ESR1, EZH2, FAM175A, FANCI, FANCL, FBXW7, FGF1, FGF10, FGF14, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FLT1, FLT3, FOXL2, GEN1, GNA11, GNAQ, GNAS, HNF1A, HRAS, CHEK1, CHEK2, IDH1, IDH2, INPP4B, JAK2, JAK3, KDR, KIT, KMT2A, KRAS, MAP2K1, MAP2K2, MCL1, MDM2, MDM4, MET, MLH1, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MTOR, MUTYH, MYC, MYCL1, MYCN, MYD88, NBN, NF1, NOTCH1, NOTCH2, NOTCH3, NPM1, NRAS, NRG1, PALB2, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PMS2, PPP2R2A, PTEN, PTCH1, PTPN11, RAD51, RAD51B, RAD51C, RAD51D, RAD54L, RB1, RET, RICTOR, ROS1, RPS6KB1, SLX4, SMAD4, SMARCB1, SMO, SRC, STK11, TERT, TET2, TP53, TSC1, TSC2, VHL, XRCC2
amplifikace AKT2, ALK, AR, ATM, BRAF, BRCA1, BRCA2, CCND1, CCND3, CCNE1, CDK4, CDK6, EGFR, ERBB2, ERBB3, ERCC1, ERCC2, ESR1, FGF1, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, CHEK1, CHEK2, JAK2, KIT, KRAS, LAMP1, MDM2, MDM4, MET, MYC, MYCL1, MYCN, NRAS, NRG1, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PTEN, RAF1, RET, RICTOR, RPS6KB1, TFRC
fúze ABL1, AKT3, ALK, AR, AXL, BCL2, BRAF, BRCA1, BRCA2, CDK4, CSF1R, EGFR, EML4, ERBB2, ERG, ESR1, ETS1, ETV1, ETV4, ETV5, EWSR1, FGFR1, FGFR2, FGFR3, FGFR4, FLI1, FLT1, FLT3, JAK2, KDR, KIF5B, KIT, KMT2A, MET, MLLT3, MSH2, MYC, NOTCH1, NOTCH2, NOTCH3, NRG1, NTRK1, NTRK2, NTRK3, PAX3, PAX7, PDGFRA, PDGFRB, PIK3CA, PPARG, RAF1, RET, ROS1, RPS6KB1, TMPRSS2
BENkit NGS panel detekující mutace v genech KRAS, NRAS, BRAF. Analytická senzitivita 5%. somatické mutace
The Archer VariantPlex™ BRCA v2 Kit somatické mutace
mutace BRCA1, BRCA2 analytická sensitivita 5%