Group/Abbrev. | Name/Type of alteration | Method/Genes | Notes | Manufacturer | ||||||||||||||||||||||||||||||||||||||||
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Cervical screening | ||||||||||||||||||||||||||||||||||||||||||||
HPV test | Aptima / Alinity | clinically relevant copy numbers | Hologic/Abbott | |||||||||||||||||||||||||||||||||||||||||
Qiasure test | Methylation analysis of selected tumor supressor genes | Qiagen | ||||||||||||||||||||||||||||||||||||||||||
STI7 | 7 sexually transmitted organisms | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Genital ulcer | Herpes virus 1 and 2, CMV, Varicella-zoster virus, Haemophilus ducreyi, Lymphogranuloma venereum, Treponema pallidum | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Candidosis | Candida albicans, C. krusei, C. glabrata, C. dubliniensis, C. parapsilosis, C. tropicalis, C. lusitaniae | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Vaginitis screening | Quantitative detection of Lactobacillus spp., G. vaginalis, A. vaginae, qualitative detection of Mobiluncus spp., Trichomonas vaginalis,Candida albicans, Candida spp. | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Dry stool collection | ||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal pathogens - viruses | Norovirus GI, Norovirus GII, Rotavirus, Adenovirus, Astrovirus, Sapovirus - Real Time PCR, MuDT technology | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Gastrointestinal pathogens - bacteria I | Campylobacter spp., Clostridium difficile toxin B, Salmonella spp., EIEC*/Shigella spp., Vibrio spp. , Yersinia enterocolitica, Aeromonas spp. - Real Time PCR, MuDT technology | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Gastrointestinal pathogens - bacteria II | Clostridium difficile, E. coli O157, EHEC E. coli ( stx1/2 ), EPEC E. coli ( eaeA ), ETEC-E. coli ( It/st ), EAEC E. coli ( aggR ) - Real Time PCR, MuDT technology | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Gastrointestinal pathogens - helmintes | Ancylostoma spp., Ascaris spp., Enterobius vermicularis, Enterocytozoon spp. / Encephalitozoon spp., Hymenolepis spp., Necator americanus, Strongyloides spp., Taenia spp., Trichuris trichiura - Real Time PCR, MuDT technology | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Gastrointestinal pathogens - parasites | Giardia lamblia, Entamoeba histolytica, Cryptosporidium spp., Blastocystis hominis, Dientamoeba fragilis, Cyclospora cayetanensis - Real Time PCR, MuDT technology | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Mutation analysis, fusion transcript analysis, CNV analysis, clonality analysis, microbiom analysis, expression analysis by NGS | ||||||||||||||||||||||||||||||||||||||||||||
Next generation sequencing (NGS) | ||||||||||||||||||||||||||||||||||||||||||||
EXOM seq SOMATIC | Somatic mutation | Analysis of 1000 cancer related genes using Twist Exome 2.0 kit with avrg. read depth 500x. | Twist | |||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | ABCB1, ABI1, ABL1, ABL2, ABRAXAS1, ACKR3, ACSL3, ACSL6, ACTB, ACTG1, ACVR1, ACVR1B, ACVR2A, ADARB2, ADGRA2, ADGRG4, ADHFE1, AFDN, AFF1, AFF3, AFF4, AGGF1, AGK, AGO1, AGO2, AIP, AJUBA, AKT1, AKT1S1, AKT2, AKT3, ALB, ALDH1L2, ALDH2, ALK, ALOX12B, ALOX15B, ALOX5, AMER1, ANKRD11, ANKRD26, APC, APEX1, APH1A, APLNR, APOBEC3B, AR, ARAF, ARFRP1, ARHGAP26, ARHGAP35, ARHGEF12, ARHGEF28, ARID1A, ARID1B, ARID2, ARID3A, ARID3B, ARID3C, ARID4A, ARID4B, ARID5A, ARID5B, ARNT, ASMTL, ASPSCR1, ASXL1, ASXL2, ATF1, ATG5, ATIC, ATM, ATP1A1, ATP2B3, ATP6AP1, ATP6V1B2, ATR, ATRIP, ATRX, ATXN2, ATXN7, AURKA, AURKB, AXIN1, AXIN2, AXL, B2M, BAALC, BABAM1, BACH2, BAP1, BARD1, BAX, BBC3, BCL10, BCL11A, BCL11B, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL3, BCL6, BCL7A, BCL9, BCL9L, BCOR, BCORL1, BCR, BIRC3, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD3, BRD4, BRIP1, BRSK1, BTG1, BTG2, BTK, BTLA, BUB1B, CACNA1D, CAD, CALR, CAMTA1, CANT1, CARD11, CARM1, CARS1, CASP8, CASR, CBFA2T3, CBFB, CBL, CBLB, CBLC, CCDC6, CCN6, CCNB1IP1, CCNB3, CCND1, CCND2, CCND3, CCNE1, CCNQ, CCT6B, CD19, CD22, CD274, CD276, CD28, CD36, CD58, CD70, CD74, CD79A, CD79B, CDC42, CDC73, CDH1, CDH11, CDH2, CDH4, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CDX2, CEBPA, CENPA, CEP43, CIC, CIITA, CILK1, CKS1B, CLIP1, CLP1, CLTC, CLTCL1, CMTR2, CNBP, CNOT3, CNTRL, COL1A1, COL2A1, COP1, CPS1, CRBN, CREB1, CREB3L1, CREB3L2, CREBBP, CREM, CRKL, CRLF2, CRTC1, CRTC3, CSDE1, CSF1, CSF1R, CSF3R, CTC1, CTCF, CTDNEP1, CTLA4, CTNNA1, CTNNB1, CTR9, CUL3, CUL4A, CUX1, CXCR4, CYLD, CYP17A1, CYP19A1, CYSLTR2, DAXX, DAZAP1, DCTN1, DCUN1D1, DDB2, DDIT3, DDR1, DDR2, DDX10, DDX3X, DDX4, DDX41, DDX5, DDX6, DEK, DHX15, DICER1, DIS3, DIS3L2, DKK1, DKK2, DKK3, DKK4, DNAJB1, DNM2, DNMT1, DNMT3A, DNMT3B, DOT1L, DPYD, DROSHA, DTX1, DUSP2, DUSP22, DUSP4, DUSP9, E2F3, EBF1, ECSIT, ECT2L, EED, EGFL7, EGFR, EGR1, EGR2, EIF1AX, EIF2B1, EIF3E, EIF4A2, EIF4E, ELF3, ELF4, ELK4, ELL, ELL2, ELN, ELOC, ELP2, EML4, EMSY, EP300, EP400, EPAS1, EPCAM, EPHA3, EPHA5, EPHA7, EPHB1, EPHB4, EPOR, EPS15, ERBB2, ERBB3, ERBB4, ERC1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERF, ERG, ERRFI1, ESCO2, ESR1, ETAA1, ETNK1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EXOSC6, EXT1, EXT2, EZH1, EZH2, EZHIP, EZR, FAF1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FAT1, FAT4, FBXO11, FBXO31, FBXW2, FBXW7, FCGR2B, FCRL4, FES, FEV, FGF1, FGF10, FGF12, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FHIT, FIP1L1, FLCN, FLI1, FLT1, FLT3, FLT4, FLYWCH1, FNBP1, FOLH1, FOLR1, FOXA1, FOXF1, FOXL2, FOXN4, FOXO1, FOXO3, FOXO4, FOXP1, FRS2, FSTL1, FSTL3, FUBP1, FURIN, FUS, FYN, FZR1, GAB1, GAB2, GABRA6, GADD45B, GAS7, GATA1, GATA2, GATA3, GATA4, GATA6, GEN1, GID4, GLI1, GMPS, GNA11, GNA12, GNA13, GNAQ, GNAS, GNB1, GOLGA5, GOPC, GPC3, GPHN, GPS2, GRB7, GREM1, GRIN2A, GRM3, GSK3B, GSTP1, GTF2I, GTSE1, H1-2, H1-3, H1-4, H1-5, H2AC11, H2AC16, H2AC17, H2AC6, H2BC11, H2BC12, H2BC17, H2BC4, H2BC5, H2BC8, H3-3A, H3-3B, H3-4, H3-5, | LOD 5 % | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | H3C1, H3C10, H3C11, H3C12, H3C13, H3C14, H3C15, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H3P6, H4C6, H4C9, HDAC1, HDAC2, HDAC4, HDAC7, HERPUD1, HEY1, HFE, HGF, HIF1A, HIP1, HIRA, HLA-A, HLA-B, HLA-C, HLF, HMGA1, HMGA2, HNF1A, HNF1B, HNRNPA2B1, HOOK3, HOXA11, HOXA13, HOXA3, HOXA9, HOXB13, HOXC11, HOXC13, HOXD11, HOXD13, HRAS, HSD17B2, HSD3B1, HSP90AA1, HSP90AB1, HTATIP2, CHD2, CHD4, CHEK1, CHEK2, CHCHD7, CHIC2, CHN1, CHTF8, ICOSLG, ID1, ID3, IDH1, IDH2, IFNAR1, IFNGR1, IGF1, IGF1R, IGF2, IGH, IGK, IGL, IKBKB, IKBKE, IKZF1, IKZF2, IKZF3, IL10, IL2, IL21R, IL3, IL6ST, IL7R, ING1, INHA, INHBA, INPP4A, INPP4B, INPP5D, INPPL1, INSR, INTS6, IQGAP1, IRF1, IRF2, IRF4, IRF8, IRS1, IRS2, IRS4, ITK, ITPKB, JAK1, JAK2, JAK3, JARID2, JAZF1, JUN, KAT6A, KAT6B, KAT7, KBTBD4, KCNJ5, KDM2B, KDM4C, KDM5A, KDM5C, KDM5D, KDM6A, KDR, KDSR, KEAP1, KEL, KIAA1549, KIF5B, KIT, KLF2, KLF3, KLF4, KLF5, KLF6, KLHL6, KLK2, KMT2A, KMT2B, KMT2C, KMT2D, KMT5A, KNL1, KNSTRN, KRAS, KSR2, KTN1, LARP4B, LASP1, LATS1, LATS2, LCK, LCP1, LEF1, LGR5, LIFR, LMNA, LMO1, LMO2, LPP, LRIG3, LRP1B, LRP5, LRP6, LRRK2, LTB, LTK, LYL1, LYN, LZTR1, MAD2L2, MAF, MAFB, MAGED1, MAGI2, MAL2, MALT1, MAML2, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K14, MAP3K21, MAP3K6, MAP3K7, MAP4K4, MAPK1, MAPK3, MAPKAP1, MAX, MBD4, MBD6, MCL1, MDC1, MDM2, MDM4, MDS2, MECOM, MED12, MEF2B, MEF2C, MEF2D, MEN1, MERTK, MET, MGA, MGAM, MIB1, MIDEAS, MITF, MKI67, MKNK1, MLF1, MLH1, MLH3, MLLT1, MLLT10, MLLT11, MLLT3, MLLT6, MN1, MNX1, MOB3B, MPEG1, MPL, MRE11, MRTFA, MS4A1, MSH2, MSH3, MSH6, MSI1, MSI2, MSN, MST1, MST1R, MTAP, MTCP1, MTHFD2, MTHFR, MTOR, MUC1, MUTYH, MYB, MYBL1, MYC, MYCL, MYCN, MYD88, MYH11, MYH9, MYO18A, MYO5A, MYOD1, NAB2, NACA, NADK, NBEAP1, NBN, NCOA1, NCOA2, NCOA3, NCOA4, NCOR1, NCOR2, NCSTN, NDRG1, NEGR1, NF1, NF2, NFATC2, NFE2, NFE2L2, NFIB, NFKB2, NFKBIA, NFKBIE, NHERF1, NIN, NKX2-1, NKX3-1, NOD1, NONO, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NQO1, NR4A3, NRAS, NRG1, NSD1, NSD2, NSD3, NT5C2, NTHL1, NTRK1, NTRK2, NTRK3, NUF2, NUMA1, NUP214, NUP93, NUP98, NUTM1, NUTM2A, NUTM2B, NUTM2D, OLIG2, OMD, ONECUT2, P2RY8, PAFAH1B2, PAG1, PAK1, PAK3, PAK5, PALB2, PARP1, PARP2, PARP3, PASK, PATZ1, PAX3, PAX5, PAX7, PAX8, PBRM1, PBX1, PC, PCBP1, PCLO, PCM1, PCSK7, PDCD1, PDCD11, PDCD1LG2, PDE4DIP, PDGFB, PDGFRA, PDGFRB, PDK1, PDPK1, PDS5B, PER1, PGBD5, PGR, PHF1, PHF19, PHF6, PHLPP1, PHLPP2, PHOX2B, PICALM, PIGA, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PLAG1, PLCG1, PLCG2, PLK2, PMAIP1, PML, PMS1, PMS2, PNRC1, POLD1, POLE, POLG, POLH, POLQ, POT1, POU2AF1, POU2F2, POU3F2, POU3F4, POU5F1, PPARG, PPFIBP1, PPM1D, PPP1CB, PPP2R1A, PPP2R2A, PPP4R2, PPP6C, PRCC, PRDM1, PRDM14, PRDM16, PREX2, PRF1, PRKACA, PRKAR1A, PRKCB, PRKCI, PRKD1, PRKDC, PRKN, PRPF8, PRRX1, PRSS1, PRSS8, PSIP1, PSMB2, PTEN, PTCH1, PTK6, PTK7, PTP4A1, PTPN1, PTPN11, PTPN13, PTPN14, PTPN2, PTPN6, PTPRB, PTPRC, PTPRD, PTPRK, PTPRO, PTPRS, PTPRT, PUM1, QKI, RAB35, RABEP1, RAC1, RAC2, RAD17, RAD21, | |||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RALGDS, RANBP2, RAP1GDS1, RARA, RASA1, RASGEF1A, RB1, RBM10, RBM15, RECQL, RECQL4, REL, RELN, REST, RET, REV3L, RHEB, RHOA, RHOH, RICTOR, RIOK2, RIT1, RMI2, RNASEH2A, RNASEH2B, RNF213, RNF217-AS1, RNF43, ROBO1, ROS1, RPL10, RPL22, RPL5, RPN1, RPS15, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RRAGC, RRAS, RRAS2, RSPO2, RSPO3, RTEL1, RUNX1, RUNX1T1, RUNX2, RXRA, RYBP, S1PR2, SALL4, SAMD9, SAMD9L, SAMHD1, SBDS, SCG5, SDC4, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC31A, SEPTIN5, SEPTIN6, SEPTIN9, SERP2, SERPINB3, SERPINB4, SESN1, SESN2, SESN3, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD3, SETD4, SETD5, SETD6, SETD7, SETDB1, SETDB2, SF3B1, SF3B2, SFPQ, SFRP1, SFRP2, SFRP4, SGK1, SH2B3, SH2D1A, SH3GL1, SHOC2, SHQ1, SIX1, SLC1A2, SLC34A2, SLC45A3, SLFN11, SLIT2, SLIT3, SLX4, SMAD2, SMAD3, SMAD4, SMARCA1, SMARCA2, SMARCA4, SMARCB1, SMARCD1, SMARCE1, SMC1A, SMC3, SMG1, SMO, SMYD3, SNCAIP, SND1, SNX29, SOCS1, SOCS2, SOCS3, SOS1, SOX10, SOX17, SOX2, SOX9, SP140, SPEN, SPOP, SPRED1, SPRTN, SQSTM1, SRC, SRP72, SRSF2, SRSF3, SS18, SS18L1, SSX1, SSX2, SSX4, STAG1, STAG2, STAT1, STAT2, STAT3, STAT4, STAT5A, STAT5B, STAT6, STIL, STK11, STK19, STK40, STRN, SUFU, SUZ12, SYK, SZT2, TACSTD2, TAF1, TAF15, TAL1, TAL2, TAP1, TAP2, TBL1XR1, TBX3, TCEA1, TCF12, TCF3, TCF7L2, TCL1A, TCL1B, TEC, TEK, TENT5C, TERC, TERT, TET1, TET2, TET3, TFE3, TFEB, TFG, TFPT, TFRC, TGFBR1, TGFBR2, TIGAR, TIPARP, TLE1, TLE2, TLE3, TLE4, TLL2, TLX1, TLX3, TMEM127, TMEM30A, TMPRSS2, TMSB4XP8, TNFAIP3, TNFRSF11A, TNFRSF14, TNFRSF17, TNFSF13, TONSL, TOP1, TOP2A, TP53, TP53BP1, TP63, TPM3, TPM4, TPMT, TPR, TRA, TRAF2, TRAF3, TRAF5, TRAF7, TRB, TRD, TRG, TRIB3, TRIM24, TRIM27, TRIM33, TRIP11, TRIP13, TRRAP, TSC1, TSC2, TSHR, TTL, TUSC3, TYK2, TYMS, TYRO3, U2AF1, U2AF2, UBA1, UBE2A, UBR5, UBTF, UCHL1, UPF1, USP1, USP6, USP8, VAV1, VAV2, VEGFA, VHL, VTCN1, WAS, WDCP, WDR90, WEE1, WIF1, WRN, WT1, WWP1, WWTR1, XBP1, XIAP, XPA, XPC, XPO1, XRCC1, XRCC2, YAP1, YES1, YPEL5, YWHAE, YY1, YY1AP1, ZBTB16, ZBTB20, ZBTB7A, ZFHX3, ZFP36L1, ZFP36L2, ZMYM2, ZMYM3, ZNF217, ZNF24, ZNF292, ZNF331, ZNF384, ZNF521, ZNF703, ZNF750, ZNRF3, ZRSR2 | |||||||||||||||||||||||||||||||||||||||||||
other genes mutation - somatic: individualy on request | any of remaining genes | |||||||||||||||||||||||||||||||||||||||||||
RNA seq - Whole Transcriptome sequencing | Fusion detection and expression across whole transcriptome using RNA sequencing | Currently under validation | Twist | |||||||||||||||||||||||||||||||||||||||||
EXOM seq GERMLINE | Germline - SOPHiA Whole Exome Solution v2 | LOD NA | Sophia Genetics | |||||||||||||||||||||||||||||||||||||||||
Mutation - germline (226 cancer related genes) | AIP, ALK, APC, APEX1, ATM, ATMIN, ATR, ATRIP, AURKA, AXIN1, BABAM1, BAP1, BARD1, BLM, BMPR1A, BRAP, BRCA1, BRCA2, BRCC3, BRE, BRIP1, BUB1B, C11orf30, C19orf40, casp8, CCND1, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CLSPN, CSNK1D, CSNK1E, CWF19L2, CYLD, DCLRE1C, DDB2, DHFR, DICER1, DIS3L2, DMBT1, DMC1, DNAJC21, DPYD, EGFR, EPCAM, EPHX1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ESR1, ESR2, EXO1, EXT1, EXT2, EYA2, EZH2, FAM175A, FAM175B, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBXW7, FH, FLCN, GADD45A, GATA2, GPC3, GRB7, HELQ, HNF1A, HOXB13, HRAS, HUS1, CHEK1, CHEK2, KAT5, KCNJ5, KIT, LIG1, LIG3, LIG4, LMO1, LRIG1, MAX, MCPH1, MDC1, MDM2, MDM4, MEN1, MET, MGMT, MLH1, MLH3, MMP8, MPL, MRE11A, MSH2, MSH3, MSH5, MSH6, MSR1, MUS81, MUTYH, NAT1, NBN, NCAM1, NELFB, NF1, NF2, NFKBIZ, NHEJ1, NSD1, OGG1, PALB2, PARP1, PCNA, PHB, PHOX2B, PIK3CG, PLA2G2A, PMS1, PMS2, POLB, POLD1, POLE, PPM1D, PREX2, PRF1, PRKAR1A, PRKDC, PTEN, PTCH1, PTTG2, RAD1, RAD17, RAD18, RAD23B, RAD50, RAD51, RAD51AP1, RAD51B, RAD51C, RAD51D, RAD52, RAD54B, RAD54L, RAD9A, RB1, RBBP8, RECQL, RECQL4, RECQL5, RET, RFC1, RFC2, RFC4, RHBDF2, RNF146, RNF168, RNF8, RPA1, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETX, SHPRH, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TCL1A, TELO2, TERF2, TERT, TLR2, TLR4, TMEM127, TOPBP1, TP53, TP53BP1, TSC1, TSC2, TSHR, UBE2A, UBE2B, UBE2I, UBE2V2, UBE4B, UIMC1, VHL, WRN, WT1, XPA, XPC, XRCC1, XRCC2, XRCC3, XRCC4, XRCC5, XRCC6, ZNF350, ZNF365 | |||||||||||||||||||||||||||||||||||||||||||
CNV - germline (selected genes) | ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, ABRAXAS1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, XRCC2 | |||||||||||||||||||||||||||||||||||||||||||
other genes mutation - germline: individualy on request | any of remaining genes | |||||||||||||||||||||||||||||||||||||||||||
OncoDEEP | OncoDeep 638 genes DNA somatic mutation kit with additional biomarkers MSI, TMB, HRD. | OncoDNA | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | ABL1 ,BABAM1 ,CD79B ,CXCR4 ,EPHB1 ,FGF10 ,GEN1 ,HNRNPK ,ABL2 ,BAP1 ,CDC42 ,CYLD ,EPHB4 ,FGF12 ,GID4 ,HOXB13 ,ACVR1 ,BARD1 ,CDC73 ,CYP17A1 ,ERBB2 ,FGF14 ,GLI1 ,HRAS ,ACVR1B ,BBC3 ,CDH1 ,CYP19A1 ,ERBB3 ,FGF19 ,GNA11 ,HSD3B1 ,ADARB2 ,BCL10 ,CDH4 ,CYP2C19 ,ERBB4 ,FGF2 ,GNA13 ,HSP90AA1 ,AGO1 ,BCL2 ,CDK12 ,CYP2D6 ,ERCC1 ,FGF23 ,GNAQ ,ICOSLG ,AGO2 ,BCL2L1 ,CDK4 ,CYSLTR2 ,ERCC2 ,FGF3 ,GNAS ,ID3 ,AJUBA ,BCL2L11 ,CDK6 ,DAXX ,ERCC3 ,FGF4 ,GNB1 ,IDH1 ,AKT1 ,BCL2L2 ,CDK7 ,DCUN1D1 ,ERCC4 ,FGF5 ,GPR124 ,IDH2 ,AKT2 ,BCL6 ,CDK8 ,DDR1 ,ERCC5 ,FGF6 ,GPS2 ,IFNGR1 ,AKT3 ,BCOR ,CDKN1A ,DDR2 ,ERF ,FGF7 ,GREM1 ,IGF1 ,ALB ,BCORL1 ,CDKN1B ,DDX41 ,ERG ,FGF8 ,GRIN2A ,IGF1R ,ALK ,BCR ,CDKN2A ,DHX15 ,ERRFI1 ,FGF9 ,GRM3 ,IGF2 ,ALOX12B ,BIRC3 ,CDKN2B ,DICER1 ,ESR1 ,FGFR1 ,GSK3B ,IKBKE ,AMER1 ,BLM ,CDKN2C ,DIS3 ,ETAA1 ,FGFR2 ,H3F3A ,IKZF1 ,ANKRD11 ,BMPR1A ,CEBPA ,DNAJB1 ,ETS1 ,FGFR3 ,H3F3B ,IL10 ,ANKRD26 ,BRAF ,CENPA ,DNMT1 ,ETV1 ,FGFR4 ,H3F3C ,IL7R ,APC ,BRCA1 ,CHD2 ,DNMT3A ,ETV4 ,FH ,HDAC1 ,INHA ,APLNR ,BRCA2 ,CHD4 ,DNMT3B ,ETV5 ,FLCN ,HGF ,INHBA ,AR ,BRD4 ,CHEK1 ,DOT1L ,ETV6 ,FLI1 ,HIST1H1C ,INPP4A ,ARAF ,BRIP1 ,CHEK2 ,DPYD ,EWSR1 ,FLT1 ,HIST1H2BD ,INPP4B ,ARFRP1 ,BTG1 ,CIC ,DROSHA ,EZH1 ,FLT3 ,HIST1H3A ,INPPL1 ,ARHGAP35 ,BTG2 ,CMTR2 ,DUSP4 ,EZH2 ,FLT4 ,HIST1H3B ,INSR ,ARID1A ,BTK ,CNTN4 ,E2F3 ,EZR ,FOXA1 ,HIST1H3C ,IRF2 ,ARID1B ,CALR ,CREBBP ,EED ,FAM175A ,FOXF1 ,HIST1H3D ,IRF4 ,ARID2 ,CARD11 ,CRKL ,EGFL7 ,FAM46C ,FOXL2 ,HIST1H3E ,IRS1 ,ARID5B ,CARM1 ,CRLF2 ,EGFR ,FAM58A ,FOXO1 ,HIST1H3F ,IRS2 ,ASXL1 ,CASP8 ,CSDE1 ,EIF1AX ,FANCA ,FOXP1 ,HIST1H3G ,JAK1 ,ASXL2 ,CBFB ,CSF1R ,EIF4A2 ,FANCC ,FRS2 ,HIST1H3H ,JAK2 ,ATM ,CBL ,CSF3R ,EIF4E ,FANCD2 ,FUBP1 ,HIST1H3I ,JAK3 ,ATR ,CCNB3 ,CSNK1A1 ,ELF3 ,FANCE ,FYN ,HIST1H3J ,JUN ,ATRX ,CCND1 ,CTCF ,EML4 ,FANCF ,GAB1 ,HIST2H3A ,KAT6A ,ATXN7 ,CCND2 ,CTLA4 ,EMSY ,FANCG ,GAB2 ,HIST2H3C ,KBTBD4 ,AURKA ,CCND3 ,CTNNA1 ,EP300 ,FANCI ,GABRA6 ,HIST2H3D ,KDM5A ,AURKB ,CCNE1 ,CTNNB1 ,EPAS1 ,FANCL ,GATA1 ,HIST3H3 ,KDM5C ,AXIN1 ,CD276 ,CTR9 ,EPCAM ,FAS ,GATA2 ,HLA-A ,KDM6A ,AXIN2 ,CD70 ,CUL3 ,EPHA3 ,FAT1 ,GATA3 ,HLA-B ,KDR ,AXL ,CD74 ,CUL4A ,EPHA5 ,FBXW7 ,GATA4 ,HLA-C ,KEAP1 ,B2M ,CD79A ,CUX1 ,EPHA7 ,FGF1 ,GATA6 ,HNF1A ,KEL ,KIF5B ,KIT ,KLF4 ,KLF5 ,KLHL6 ,KMT2A ,KMT2B ,KMT2C ,KMT2D ,KMT5A ,KNSTRN ,KRAS ,LAMP1 ,LATS1 ,LATS2 ,LMO1 ,LRP1B ,LTK ,LYN ,LZTR1 ,MAD2L2 ,MAGI2 ,MALT1 ,MAP2K1 ,MAP2K2 ,MAP2K4 ,MAP3K1 ,MAP3K13 ,MAP3K14 ,MAP3K4 ,MAPK1 ,MAPK3 ,MAPKAP1 ,MAX ,MCL1 ,MDC1 ,MDM2 ,MDM4 ,MED12 ,MEF2B ,MEN1 ,MET ,MGA ,MITF ,MLH1 ,MLLT1 ,MLLT3 ,MPL ,MRE11A ,MSH2 ,MSH3 ,MSH6 ,MSI1 ,MSI2 ,MST1 ,MST1R ,MTAP ,MTOR ,MUTYH ,MYB ,MYC ,MYCL ,MYCN ,MYD88 ,MYOD1 ,NAB2 ,NADK ,NBN ,NCOA3 ,NCOR1 ,NEGR1 ,NF1 ,NF2 ,NFE2L2 ,NFKBIA ,NKX2-1 ,NKX3-1 ,NOTCH1 ,NOTCH2 ,NOTCH3 ,NOTCH4 ,NPM1 ,NRAS ,NRG1 ,NSD1 ,NT5C2 ,NTHL1 ,NTRK1 ,NTRK2 ,NTRK3 ,NUF2 ,NUP93 ,NUTM1 ,OPCML ,P2RY8 ,PAK1 ,PAK3 ,PAK7 ,PALB2 ,PARK2 ,PARP1 ,PARP2 ,PARP3 ,PAX3 ,PAX5 ,PAX7 ,PAX8 ,PBRM1 ,PD-1 ,PD-L1 ,PD-L2 ,PDGFRA ,PDGFRB ,PDK1 ,PDPK1 ,PGBD5 ,PGR ,PHF6 ,PHOX2B ,PIGA ,PIK3C2B ,PIK3C2G ,PIK3C3 ,PIK3CA ,PIK3CB ,PIK3CD ,PIK3CG ,PIK3R1 ,PIK3R2 ,PIK3R3 ,PIM1 ,PLCG2 ,PLK2 ,PMAIP1 ,PMS1 ,PMS2 ,PNRC1 ,POLD1 ,POLE ,POT1 ,PPARG ,PPM1D ,PPP2R1A ,PPP2R2A ,PPP4R2 ,PPP6C ,PRDM1 ,PRDM14 ,PREX2 ,PRKAR1A ,PRKCI ,PRKD1 ,PRKDC ,PRSS8 ,PTCH1 ,PTEN ,PTP4A1 ,PTPN11 ,PTPRD ,PTPRN2 ,PTPRS ,PTPRT ,QKI ,RAB35 ,RAC1 ,RAC2 ,RAD21 ,RAD50 ,RAD51 ,RAD51B ,RAD51C ,RAD51D ,RAD52 ,RAD54L ,RAF1 ,RANBP2 ,RARA ,RASA1 ,RB1 ,RBM10 ,RECQL ,RECQL4 ,REL ,REST ,RET ,RFWD2 ,RHEB ,RHOA ,RICTOR ,RIT1 ,RNF43 ,ROS1 ,RPS6KA4 ,RPS6KB1 ,RPS6KB2 ,RPTOR ,RRAGC ,RRAS ,RRAS2 ,RSPO2 ,RTEL1 ,RUNX1 ,RUNX1T1 ,RXRA ,RYBP ,SCG5 ,SDC4 ,SDHA ,SDHAF2 ,SDHB ,SDHC ,SDHD ,SERPINB3 ,SERPINB4 ,SESN1 ,SESN2 ,SESN3 ,SETBP1 ,SETD2 ,SETDB1 ,SF3B1 ,SGK1 ,SH2B3 ,SH2D1A ,SHOC2 ,SHQ1 ,SLC34A2 ,SLFN11 ,SLIT2 ,SLX4 ,SMAD2 ,SMAD3 ,SMAD4 ,SMARCA2 ,SMARCA4 ,SMARCB1 ,SMARCD1 ,SMARCE1 ,SMC1A ,SMC3 ,SMO ,SMYD3 ,SNCAIP ,SNTG2 ,SOCS1 ,SOS1 ,SOX10 ,SOX17 ,SOX2 ,SOX9 ,SPEN ,SPOP ,SPRED1 ,SPRTN ,SPTA1 ,SRC ,SRSF2 ,STAG1 ,STAG2 ,STAT3 ,STAT4 ,STAT5A ,STAT5B ,STK11 ,STK19 ,STK40 ,SUFU ,SUZ12 ,SYK ,TAF1 ,TAP1 ,TAP2 ,TBX3 ,TCEB1 ,TCF3 ,TCF7L2 ,TEK ,TERT ,TET1 ,TET2 ,TFE3 ,TFRC ,TGFBR1 ,TGFBR2 ,TIPARP ,TMEM127 ,TMPRSS2 ,TNFAIP3 ,TNFRSF14 ,TOP1 ,TOP2A ,TP53 ,TP53BP1 ,TP63 ,TPMT ,TRAF2 ,TRAF7 ,TRIP13 ,TSC1 ,TSC2 ,TSHR ,TYRO3 ,U2AF1 ,UGT1A1 ,UPF1 ,USP8 ,VEGFA ,VHL ,VTCN1 ,WHSC1 ,WHSC1L1 ,WISP3 ,WT1 ,WWTR1 ,XIAP ,XPO1 ,XRCC2 ,YAP1 ,YES1 ,ZBTB2 ,ZBTB7A ,ZFHX3 ,ZNF217 ,ZNF703 ,ZNRF3 ,ZRSR2 | LOD 5 %, Tumor Mutation Burden, MSI status, HRD status | ||||||||||||||||||||||||||||||||||||||||||
TS500D, TS500R | TSO500 complete DNA mutation and RNA fusion analysis | Illumina | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | ABL1, ABL2, ACVR1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, ANKRD11, ANKRD26, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BBC3, BCL10, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL6, BCOR, BCORL1, BCR, BIRC3, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTK, C11orf30, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CD74, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CUX1, CXCR4, CYLD, DAXX, DCUN1D1, DDR2, DDX41, DHX15, DICER1, DIS3, DNAJB1, DNMT1, DNMT3A, DNMT3B, DOT1L, E2F3, EED, EGFL7, EGFR, EIF1AX, EIF4A2, EIF4E, EML4, EP300, EPCAM, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ERRFI1, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FAM123B, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FAT1, FBXW7, FGF1, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1, FLT1, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FOXP1, FRS2, FUBP1, FYN, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, GEN1, GID4, GLI1, GNA11, GNA13, GNAQ, GNAS, GPR124, GPS2, GREM1, GRIN2A, GRM3, GSK3B, H3F3A, H3F3B, H3F3C, HGF, HIST1H1C, HIST1H2BD, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J, HIST2H3A, HIST2H3C, HIST2H3D, HIST3H3, HLA-A, HLA-B, HLA-C, HNF1A, HNRNPK, HOXB13, HRAS, HSD3B1, HSP90AA1, ICOSLG, ID3, IDH1, IDH2, IFNGR1, IGF1, IGF1R, IGF2, IKBKE, IKZF1, IL10, IL7R, INHA, INHBA, INPP4A, INPP4B, INSR, IRF2, IRF4, IRS1, IRS2, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIF5B, KIT, KLF4, KLHL6, KMT2B, KMT2C, KMT2D, KRAS, LAMP1, LATS1, LATS2, LMO1, LRP1B, LYN, LZTR1, MAGI2, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K14, MAP3K4, MAPK1, MAPK3, MAX, MCL1, MDC1, MDM2, MDM4, MED12, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLL, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MST1, MST1R, MTOR, MUTYH, MYB, MYC, MYCL1, MYCN, MYD88, MYOD1, NAB2, NBN, NCOA3, NCOR1, NEGR1, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NKX3-1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NRAS, NRG1, NSD1, NTRK1, NTRK2, NTRK3, NUP93, NUTM1, PAK1, PAK3, PAK7, PALB2, PARK2, PARP1, PAX3, PAX5, PAX7, PAX8, PBRM1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDK1, PDPK1, PGR, PHF6, PHOX2B, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PLCG2, PLK2, PMAIP1, PMS1, PMS2, PNRC1, POLD1, POLE, PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS8, PTCH1, PTEN, PTPN11, PTPRD, PTPRS, PTPRT, QKI, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, RBM10, RECQL4, REL, RET, RFWD2, RHEB, RHOA, RICTOR, RIT1, RNF43, ROS1, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RUNX1, RUNX1T1, RYBP, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SH2B3, SH2D1A, SHQ1, SLIT2, SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMC1A, SMC3, SMO, SNCAIP, SOCS1, SOX10, SOX17, SOX2, SOX9, SPEN, SPOP, SPTA1, SRC, SRSF2, STAG1, STAG2, STAT3, STAT4, STAT5A, STAT5B, STK11, STK40, SUFU, SUZ12, SYK, TAF1, TBX3, TCEB1, TCF3, TCF7L2, TERC, TERT, TET1, TET2, TFE3, TFRC, TGFBR1, TGFBR2, TMEM127, TMPRSS2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TP63, TRAF2, TRAF7, TSC1, TSC2, TSHR, U2AF1, VEGFA, VHL, VTCN1, WISP3, WT1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZNF217, ZNF703, ZRSR2. | LOD 5 %, Tumor Mutation Burden, MSI status | ||||||||||||||||||||||||||||||||||||||||||
Fusion - somatic | 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, MET, MLL, MLLT3, MSH2, MYC, NOTCH1, NOTCH2, NOTCH3, NRG1, NTRK1, NTRK2, NTRK3, PAX3, PAX7, PDGFRA, PDGFRB, PIK3CA, PPARG, RAF1, RET, ROS1, RPS6KB1, TMPRSS2 | |||||||||||||||||||||||||||||||||||||||||||
TS500D, TS500P | TSO500 complete DNA mutation and RNA fusion analysis with PanCancer RNA probes | Illumina | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | ABL1, ABL2, ACVR1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, ANKRD11, ANKRD26, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BBC3, BCL10, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL6, BCOR, BCORL1, BCR, BIRC3, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTK, C11orf30, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CD74, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CUX1, CXCR4, CYLD, DAXX, DCUN1D1, DDR2, DDX41, DHX15, DICER1, DIS3, DNAJB1, DNMT1, DNMT3A, DNMT3B, DOT1L, E2F3, EED, EGFL7, EGFR, EIF1AX, EIF4A2, EIF4E, EML4, EP300, EPCAM, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ERRFI1, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FAM123B, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FAT1, FBXW7, FGF1, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1, FLT1, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FOXP1, FRS2, FUBP1, FYN, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, GEN1, GID4, GLI1, GNA11, GNA13, GNAQ, GNAS, GPR124, GPS2, GREM1, GRIN2A, GRM3, GSK3B, H3F3A, H3F3B, H3F3C, HGF, HIST1H1C, HIST1H2BD, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J, HIST2H3A, HIST2H3C, HIST2H3D, HIST3H3, HLA-A, HLA-B, HLA-C, HNF1A, HNRNPK, HOXB13, HRAS, HSD3B1, HSP90AA1, ICOSLG, ID3, IDH1, IDH2, IFNGR1, IGF1, IGF1R, IGF2, IKBKE, IKZF1, IL10, IL7R, INHA, INHBA, INPP4A, INPP4B, INSR, IRF2, IRF4, IRS1, IRS2, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIF5B, KIT, KLF4, KLHL6, KMT2B, KMT2C, KMT2D, KRAS, LAMP1, LATS1, LATS2, LMO1, LRP1B, LYN, LZTR1, MAGI2, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K14, MAP3K4, MAPK1, MAPK3, MAX, MCL1, MDC1, MDM2, MDM4, MED12, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLL, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MST1, MST1R, MTOR, MUTYH, MYB, MYC, MYCL1, MYCN, MYD88, MYOD1, NAB2, NBN, NCOA3, NCOR1, NEGR1, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NKX3-1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NRAS, NRG1, NSD1, NTRK1, NTRK2, NTRK3, NUP93, NUTM1, PAK1, PAK3, PAK7, PALB2, PARK2, PARP1, PAX3, PAX5, PAX7, PAX8, PBRM1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDK1, PDPK1, PGR, PHF6, PHOX2B, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PLCG2, PLK2, PMAIP1, PMS1, PMS2, PNRC1, POLD1, POLE, PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS8, PTCH1, PTEN, PTPN11, PTPRD, PTPRS, PTPRT, QKI, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, RBM10, RECQL4, REL, RET, RFWD2, RHEB, RHOA, RICTOR, RIT1, RNF43, ROS1, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RUNX1, RUNX1T1, RYBP, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SH2B3, SH2D1A, SHQ1, SLIT2, SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMC1A, SMC3, SMO, SNCAIP, SOCS1, SOX10, SOX17, SOX2, SOX9, SPEN, SPOP, SPTA1, SRC, SRSF2, STAG1, STAG2, STAT3, STAT4, STAT5A, STAT5B, STK11, STK40, SUFU, SUZ12, SYK, TAF1, TBX3, TCEB1, TCF3, TCF7L2, TERC, TERT, TET1, TET2, TFE3, TFRC, TGFBR1, TGFBR2, TMEM127, TMPRSS2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TP63, TRAF2, TRAF7, TSC1, TSC2, TSHR, U2AF1, VEGFA, VHL, VTCN1, WISP3, WT1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZNF217, ZNF703, ZRSR2. | LOD 5 %, Tumor Mutation Burden, MSI status | ||||||||||||||||||||||||||||||||||||||||||
Fusion - somatic | ABCC3, ABI1, ABL1, ABL2, ABLIM1, ACACA, ACE, ACER1, ACKR3, ACSBG1, ACSL3, ACSL6, ACVR1B, ACVR1C, ACVR2A, ADD3, ADM, AFF1, AFF3, AFF4, AGR3, AHCYL1, AHI1, AHR, AHRR, AIP, AK2, AK5, AKAP12, AKAP6, AKAP9, AKR1C3, AKT1, AKT2, AKT3, ALDH1A1, ALDH2, ALDOC, ALK, AMER1, AMH, ANGPT1, ANKRD28, ANLN, APC, APH1A, APLP2, APOD, AR, ARAF, ARFRP1, ARHGAP20, ARHGAP26, ARHGEF12, ARHGEF7, ARID1A, ARID2, ARIH2, ARNT, ARRDC4, ASMTL, ASPH, ASPSCR1, ASTN2, ASXL1, ATF1, ATF3, ATG13, ATG5, ATIC, ATL1, ATM, ATP1B4, ATP8A2, ATR, ATRNL1, ATRX, AURKA, AURKB, AUTS2, AXIN1, AXL, BACH1, BACH2, BAG4, BAIAP2L1, BAP1, BARD1, BAX, BAZ2A, BCAS3, BCAS4, BCL10, BCL11A, BCL11B, BCL2, BCL2A1, BCL2L1, BCL2L2, BCL3, BCL6, BCL7A, BCL9, BCOR, BCORL1, BCR, BDNF, BHLHE22, BICC1, BIN1, BIRC3, BIRC6, BLM, BMP4, BMPR1A, BRAF, BRCA1, BRCA2, BRD1, BRD3, BRD4, BRIP1, BRSK1, BRWD3, BTBD18, BTG1, BTG2, BTK, BTLA, BUB1B, C11orf1, C11orf30, C11orf54, C11orf95, C2CD2L, C2orf44, C3orf27, CACNA1F, CACNA1G, CACNA2D3, CAD, CALR, CAMK2A, CAMK2B, CAMK2G, CAMTA1, CANT1, CAPRIN1, CAPZB, CARD11, CARM1, CARS, CASC5, CASP3, CASP7, CASP8, CAV1, CBFA2T3, CBFB, CBL, CBLB, CBLC, CCAR2, CCDC28A, CCDC6, CCDC88C, CCK, CCL2, CCNA2, CCNB1IP1, CCNB3, CCND1, CCND2, CCND3, CCNE1, CCNG1, CCT6B, CD19, CD22, CD274, CD28, CD36, CD44, CD58, CD70, CD74, CD79A, CD79B, CD8A, CDC14A, CDC14B, CDC25A, CDC25C, CDC42, CDC73, CDH1, CDH11, CDK1, CDK12, CDK2, CDK4, CDK5RAP2, CDK6, CDK7, CDK8, CDK9, CDKL5, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CDKN2D, CDX1, CDX2, CEBPA, CEBPB, CEBPD, CEBPE, CENPF, CENPU, CEP170B, CEP57, CEP85L, CHCHD7, CHD2, CHD6, CHEK1, CHEK2, CHIC2, CHL1, CHMP2B, CHN1, CHST11, CHUK, CIC, CIITA, CIRH1A, CIT, CKB, CKS1B, CLP1, CLTA, CLTC, CLTCL1, CMKLR1, CNBP, CNOT2, CNTN1, CNTRL, COG5, COL11A1, COL1A1, COL1A2, COL3A1, COL6A3, COL9A3, COMMD1, COX6C, CPNE1, CPS1, CPSF6, CRADD, CREB1, CREB3L1, CREB3L2, CREBBP, CRKL, CRLF2, CRTC1, CRTC3, CSF1, CSF1R, CSF3, CSF3R, CSNK1G2, CSNK2A1, CTCF, CTDSP2, CTLA4, CTNNA1, CTNNB1, CTNND2, CTRB1, CTSA, CUX1, CXCL8, CXCR4, CXXC4, CYFIP2, CYLD, CYP1B1, CYP2C19, DAB2IP, DACH1, DACH2, DAXX, DCLK2, DCN, DDB2, DDIT3, DDR2, DDX10, DDX20, DDX39B, DDX3X, DDX5, DDX6, DEK, DGKB, DGKI, DGKZ, DICER1, DIRAS3, DIS3L2, DKK1, DKK2, DKK4, DLEC1, DLL1, DLL3, DLL4, DMRT1, DMRTA2, DNAJB1, DNM1, DNM2, DNM3, DNMT1, DNMT3A, DOCK1, DOT1L, DPM1, DPYD, DST, DTX1, DTX4, DUSP2, DUSP22, DUSP26, DUSP9, DUX4, E2F1, EBF1, ECT2L, EDIL3, EDNRB, EED, EEFSEC, EGF, EGFR, EGR1, EGR2, EGR3, EGR4, EIF4A2, EIF4E, ELF4, ELK4, ELL, ELN, ELOVL2, ELP2, EML1, EML4, ENPP2, EP300, EP400, EPC1, EPCAM, EPHA10, EPHA2, EPHA3, EPHA5, EPHA7, EPHB1, EPHB6, EPO, EPOR, EPS15, ERBB2, ERBB3, ERBB4, ERC1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERG, ERLIN2, ESR1, ETS1, ETS2, ETV1, ETV4, ETV5, ETV6, EWSR1, EXOSC6, EXT1, EXT2, EYA1, EYA2, EZH2, EZR, FAF1, FAM127C, FAM19A2, FAM19A5, FAM46C, FAM64A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FBN2, FBXO11, FBXO31, FBXW7, FCGBP, FCGR2B, FCRL4, FEN1, FEV, FGF1, FGF10, FGF13, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF6, FGF8, FGF9, FGFR1, FGFR1OP, FGFR1OP2, FGFR2, FGFR3, FGFR4, FH, FHIT, FHL2, FIGF, FIP1L1, FLCN, FLI1, FLNA, FLNC, FLT1, FLT3, FLT3LG, FLT4, FLYWCH1, FNBP1, FOS, FOSB, FOSL1, FOXL2, FOXO1, FOXO3, FOXO4, FOXP1, FRK, FRMPD4, FRS2, FRYL, FSTL3, FUS, FUT1, FZD10, FZD2, FZD3, FZD6, FZD7, FZD8, GAB1, GABRG2, GADD45B, GANAB, GAS1, GAS5, GAS7, GATA1, GATA2, GATA3, GATA6, GBP2, GDF6, GFAP, GHR, GID4, GIT2, GLI1, GLI3, GMPS, GNA11, GNA12, GNA13, GNAI1, GNAQ, GNAS, GNG4, GOLGA5, GOPC, GOSR1, GOT1, GPC3, | LOD: 5 unique reads, EF>5% | ||||||||||||||||||||||||||||||||||||||||||
GPHN, GPR124, GPR128, GPR34, GRB10, GRB2, GRHPR, GRID1, GRIN2A, GRIN2B, GRM1, GRM3, GSK3B, GSN, GSTT1, GTF2I, GTSE1, H2AFX, H3F3A, HAS2, HDAC1, HDAC2, HDAC3, HDAC4, HDAC5, HDAC6, HDAC7, HECW1, HEPH, HERPUD1, HES1, HES5, HEY1, HGF, HHEX, HIF1A, HIP1, HIPK1, HIPK2, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H2AC, HIST1H2AG, HIST1H2AL, HIST1H2AM, HIST1H2BC, HIST1H2BJ, HIST1H2BK, HIST1H2BO, HIST1H3B, HIST1H4I, HLF, HMGA1, HMGA2, HMGB1, HMGN2P46, HNF1A, HNRNPA2B1, HOOK3, HOXA10, HOXA11, HOXA13, HOXA3, HOXA9, HOXC11, HOXC13, HOXD11, HOXD13, HOXD9, HRAS, HSP90AA1, HSP90AB1, HSPA1A, HSPA2, HSPA4, HSPA5, HTRA1, HUWE1, IBSP, ICAM1, ICK, ID1, ID3, ID4, IDH1, IDH2, IFNG, IFRD1, IGF1, IGF1R, IGFBP2, IGFBP3, IKBKB, IKBKE, IKZF1, IKZF2, IKZF3, IL12RB2, IL13, IL13RA2, IL15, IL1B, IL1R1, IL1RAP, IL2, IL21R, IL2RA, IL3, IL6, IL7R, INHBA, INPP4A, INPP4B, INPP5A, INPP5D, IQCG, IRF1, IRF2BP2, IRF4, IRF8, IRS1, IRS2, IRS4, ITGA5, ITGA7, ITGA8, ITGAV, ITGB3, ITK, ITPKA, JAG2, JAK1, JAK2, JAK3, JARID2, JAZF1, JUN, KALRN, KANK1, KAT2B, KAT6A, KAT6B, KCNB1, KDM1A, KDM2B, KDM4C, KDM5A, KDM5C, KDM6A, KDR, KDSR, KEAP1, KIAA0232, KIAA1524, KIAA1549, KIAA1598, KIF5B, KIT, KLF4, KLHL6, KLK2, KLK7, KMT2A, KMT2B, KMT2C, KMT2D, KPNB1, KRAS, KSR1, KTN1, LAMA1, LAMA5, LAMP2, LASP1, LCK, LCP1, LEF1, LEFTY2, LFNG, LGALS3, LGR5, LHFP, LHX2, LHX4, LIFR, LINC00598, LINC00982, LINGO2, LMBRD1, LMO1, LMO2, LMO7, LNP1, LOX, LPAR1, LPP, LPXN, LRIG3, LRMP, LRP1B, LRP5, LRPPRC, LRRC37B, LRRC59, LRRC7, LRRK2, LTBP1, LYL1, LYN, MACROD1, MAD2L1, MADD, MAF, MAFB, MAGED1, MAGEE1, MALAT1, MALT1, MAML1, MAML2, MAP2, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K5, MAP2K6, MAP2K7, MAP3K1, MAP3K14, MAP3K6, MAP3K7, MAPK1, MAPK3, MAPK8, MAPK8IP2, MAPK9, MAPRE1, MATK, MAX, MB21D2, MBNL1, MBTD1, MCL1, MDC1, MDH1, MDM2, MDM4, MDS2, MEAF6, MECOM, MED12, MEF2B, MEF2C, MEF2D, MELK, MEN1, MET, METTL18, METTL7B, MFNG, MGEA5, MGMT, MIB1, MIPOL1, MITF, MKI67, MKL1, MKL2, MLF1, MLH1, MLLT1, MLLT10, MLLT11, MLLT3, MLLT4, MLLT6, MMP7, MMP9, MN1, MNAT1, MNX1, MPL, MRE11A, MSH2, MSH3, MSH6, MSI2, MSN, MTCP1, MTOR, MTUS2, MUC1, MUTYH, MYB, MYBL1, MYC, MYCL, MYCN, MYD88, MYH11, MYH9, MYO18A, MYO1F, NAB2, NACA, NAPA, NAV3, NBEAP1, NBN, NBR1, NCAM1, NCKIPSD, NCOA1, NCOA2, NCOA3, NCOA4, NCOR2, NCSTN, NDC80, NDE1, NDRG1, NDUFAF1, NEDD4, NEURL1, NF1, NF2, NFATC1, NFATC2, NFE2L2, NFIB, NFKB1, NFKB2, NFKBIA, NGF, NGFR, NIN, NIPBL, NKX2-1, NKX2-5, NOD1, NODAL, NONO, NOS3, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NPM2, NR3C1, NR4A3, NR6A1, NRAS, NSD1, NT5C2, NTF3, NTF4, NTRK1, NTRK2, NTRK3, NUMA1, NUP107, NUP214, NUP93, NUP98, NUTM1, NUTM2A, NUTM2B, OFD1, OLIG1, OLIG2, OLR1, OMD, P2RY8, PAFAH1B2, PAG1, PAK1, PAK3, PAK6, PAK7, PALB2, PAPPA, PASK, PATZ1, PAX3, PAX5, PAX7, PAX8, PBRM1, PBX1, PC, PCBP1, PCLO, PCM1, PCNA, PCSK7, PDCD1, PDCD11, PDCD1LG2, PDE4DIP, PDGFA, PDGFB, PDGFD, PDGFRA, PDGFRB, PDK1, PEG3, PER1, PFDN5, PHB, PHF1, PHF23, PHF6, PHOX2B, PI4KA, | ||||||||||||||||||||||||||||||||||||||||||||
PICALM, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIM1, PKM, PLA2G2A, PLA2G5, PLAG1, PLAT, PLAU, PLCB1, PLCB4, PLCG1, PLCG2, PLEKHM2, PML, PMS1, PMS2, POFUT1, POLD1, POLD4, POLR2H, POM121, POMGNT1, POSTN, POT1, POU2AF1, POU5F1, PPAP2B, PPARG, PPARGC1A, PPFIA2, PPFIBP1, PPM1D, PPP1CB, PPP1R13B, PPP1R13L, PPP2CB, PPP2R1A, PPP2R1B, PPP2R2B, PPP2R4, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PPP4C, PQLC3, PRCC, PRDM1, PRDM16, PRDM7, PRF1, PRG2, PRICKLE1, PRKACA, PRKACG, PRKAR1A, PRKCA, PRKCB, PRKCD, PRKCG, PRKDC, PRKG2, PRMT1, PRMT8, PROM1, PRRX1, PRRX2, PRSS8, PSD3, PSEN1, PSIP1, PSMD2, PTBP1, PTCH1, PTCRA, PTEN, PTGS2, PTK2, PTK2B, PTK7, PTPN11, PTPN2, PTPN6, PTPRA, PTPRK, PTPRO, PTPRR, PTTG1, PVT1, RABEP1, RAC1, RAC2, RAC3, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAF1, RALGDS, RANBP17, RANBP2, RAP1GDS1, RARA, RASAL1, RASGEF1A, RASGRF1, RASGRF2, RASGRP1, RB1, RBM15, RBM6, RCHY1, RCOR1, RCSD1, RECQL4, REEP3, RELA, RELN, RERG, RET, RGS7, RHBDF2, RHOA, RHOD, RHOH, RICTOR, RLTPR, RMI2, RNF213, RNF43, ROBO1, ROBO2, ROS1, RPA3, RPL22, RPN1, RPN2, RPS21, RPS6KA1, RPS6KA2, RPS6KA3, RPTOR, RREB1, RRM1, RRM2B, RTEL1, RTN3, RUNX1, RUNX1T1, RUNX2, RYR3, S1PR2, SARNP, SBDS, SCN8A, SDC4, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC31A, SEPT2, SEPT5, SEPT6, SEPT9, SERP2, SERPINE1, SERPINF1, SET, SETBP1, SETD2, SETD7, SF3B1, SFPQ, SFRP2, SFRP4, SGK1, SGPP2, SH2D5, SH3BP1, SH3D19, SH3GL1, SH3GL2, SHC1, SHC2, SIK3, SIN3A, SIRT1, SKP2, SLC1A2, SLC34A2, SLC45A3, SLC7A5, SLCO1B3, SLX4, SMAD2, SMAD3, SMAD4, SMAD6, SMAP1, SMARCA1, SMARCA4, SMARCA5, SMARCB1, SMC1A, SMC3, SMO, SNAPC3, SNCG, SNHG5, SNW1, SNX29, SNX9, SOCS1, SOCS2, SOCS3, SOD2, SORBS2, SORT1, SOS1, SOX10, SOX11, SOX2, SP1, SP3, SPECC1, SPEN, SPOP, SPP1, SPRY2, SPRY4, SPTAN1, SPTBN1, SQSTM1, SRC, SRF, SRGAP3, SRRM3, SRSF2, SRSF3, SS18, SS18L1, SSBP2, SSX1, SSX2, SSX4, ST6GAL1, STAG2, STAT1, STAT3, STAT4, STAT5A, STAT5B, STAT6, STIL, STK11, STL, STRN, STX5, STYK1, SUFU, SUGP2, SULF1, SUV39H2, SUZ12, SYK, SYP, TACC1, TACC2, TACC3, TAF1, TAF15, TAL1, TAL2, TAOK1, TBL1XR1, TBX15, TCEA1, TCF12, TCF3, TCF7L2, TCL1A, TCL6, TCTA, TEAD1, TEAD2, TEAD3, TEAD4, TEC, TENM1, TERF1, TERF2, TERT, TET1, TET2, TFAP2A, TFDP1, TFE3, TFEB, TFG, TFPT, TFRC, TGFB2, TGFB3, TGFBI, TGFBR2, TGFBR3, THADA, THBS1, THRAP3, TIAM1, TIRAP, TLL2, TLR4, TLX1, TLX3, TMEM127, TMEM230, TMEM30A, TMPRSS2, TNC, TNF, TNFAIP3, TNFRSF10B, TNFRSF10D, TNFRSF11A, TNFRSF14, TNFRSF17, TNFRSF6B, TOP1, TOP2A, TOP2B, TP53, TP53BP1, TP63, TP73, TPD52L2, TPM3, TPM4, TPO, TPR, TRAF2, TRAF3, TRAF5, TRHDE, TRIM24, TRIM27, TRIM33, TRIP11, TRPS1, TSC1, TSC2, TSHR, TTK, TTL, TUSC3, TYK2, TYMS, U2AF1, U2AF2, UBE2B, UBE2C, UFC1, UFM1, USP16, USP42, USP5, USP6, USP7, VCAM1, VEGFA, VEGFC, VGLL3, VHL, VTI1A, WASF2, WDFY3, WDR1, WDR18, WDR70, WDR90, WEE1, WHSC1, WHSC1L1, WIF1, WISP3, WNT10A, WNT10B, WNT11, WNT16, WNT2B, WNT3, WNT4, WNT5B, WNT6, WNT7B, WNT8B, WRN, WSB1, WT1, WWOX, WWTR1, XBP1, XIAP, XKR3, XPA, XPC, XPO1, XRCC6, YAP1, YPEL5, YTHDF2, YWHAE, YY1AP1, ZBTB16, ZC3H7A, ZC3H7B, ZFP64, ZFPM2, ZFYVE19, ZIC2, ZMIZ1, ZMYM2, ZMYM3, ZMYND11, ZNF207, ZNF217, ZNF24, ZNF331, ZNF384, ZNF444, ZNF521, ZNF585B, ZNF687, ZNF703, ZRSR2 | ||||||||||||||||||||||||||||||||||||||||||||
UST | Archer® FusionPlex Universal Solid tumor custom Biopticka | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Fusion - somatic | CSF1, NOTCH2, NTRK1, AKT3, FGR, MEAF6, MAST2, CAMTA1, PRKACB, MGEA5, FGFR2, EPC1, RET, MSMB, YAP1, PDGFD, PRDM10, MYOD1, ESRRA, RELA, CCND1, MAML2, ETV6, STAT6, GLI1, HMGA2, MDM2, FOXO1, AKT1, PRKD1, RAD51B, NUTM1, TCF12, MAP2K1, NTRK3, IGF1R, MKL2, PRKCB, FUS, PHKB, YWHAE, TAF15, ERBB2, GRB7, ETV4, MBTD1, USP6, PRKCA, SS18, MAST1, PRKACA, PKN1, DNAJB1, BRD4, JAK3, CRTC1, GPI, AKT2, NUMBL, AXL, CIC, PRKD2, CHMP2A, INSR, PAX8, ACVR2A, NFE2L2, ERBB4, PAX3, NCOA1, ALK, PRKD3, THADA, NCOA3, NFATC2, SS18L1, ERG, TMPRSS2, MN1, EWSR1, PDGFB, TFG, PPARG, RAF1, RAB7A, WWTR1, PIK3CA, ETV5, PRKCD, EGF, FGFR3, PDGFRA, KIT, TERT, FGF1, ARHGAP26, CSF1R, PDGFRB, VGLL2, ROS1, RSPO3, MYB, ESR1, PHF1, TFEB, MET, ETV1, BRAF, JAZF1, EGFR, RSPO2, MYC, NRG1, FGFR1, PLAG1, MYBL1, NCOA2, NR4A3, MUSK, BRD3, NOTCH1, NFIB, VCP, JAK2, CD274, NTRK2, ARHGAP6, BCOR, TFE3, CCNB3, AR, FOXO4, FOSB, FOS, PTEN, MDM4, GFI1B, CALCA, DDX3X, VGLL3, BCORL1, GLI2, SMARCB1, RB1, PTPN1, GFI1, TTYH1, MAP3K3, CHMP2B, CDK4, MITF, KMT2A, FN1, PTH, TSC2, PRDM6, GNAS, TTF1, MAP3K8, SRF, KRT20, SLC5A5, C11orf95, KRT7, PIP4K2A, RPS19, SMARCA4, MTG1, SERPINE1, NOTCH3 | LOD:3 unique starting sites, 5 unique reads, EF>5% | ||||||||||||||||||||||||||||||||||||||||||
AST | The Archer® FusionPlex® Solid Tumor Kit | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Fusion - somatic | AKT3, EWSR1, NOTCH1/2, RAF1, ALK, FGFR1/2/3, NRG1, RELA, ARHGAP26, FGR, NTRK1/2/3, RET, AXL, INSR, NUMBL, ROS1, BRAF, MAML2, NUTM1, RSPO2/3, BRD3/4, MAST1/2, PDGFRA/B, TERT, EGFR, MET, PIK3CA, TFE3, ERG, MSMB, PKN1, TFEB, ESR1, MUSK, PPARG, THADA, ETV1/4/5/6, MYB, PRKCA/B, TMPRSS2, | LOD:3 unique starting sites, 5 unique reads, EF>5% | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | BRAF, EGFR, MET, PDGFRA | LOD: DEPTH > 50, TAF>5% | ||||||||||||||||||||||||||||||||||||||||||
LYM | The Archer® FusionPlex® Lymphoma Kit | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Fusion - somatic | 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 | LOD:3 unique starting sites, 5 unique reads, EF>5% | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | 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 | LOD: DEPTH > 50, TAF>5% | ||||||||||||||||||||||||||||||||||||||||||
LUNG | FusionPlex® Lung v2 Kit, for Illumina | |||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | ALK, BRAF, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, KRAS, NTRK1, NTRK2, NTRK3, PIK3CA, RET, ROS1 | LOD: DEPTH > 50, TAF>5% | ArcherDX | |||||||||||||||||||||||||||||||||||||||||
Fusion - somatic | ALK, BRAF, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, MET, NRG1, NTRK1, NTRK2, NTRK3, NUTM1, PIK3CA, RET, ROS1 | LOD:3 unique starting sites, 5 unique reads, EF>5% | ||||||||||||||||||||||||||||||||||||||||||
CTL | The Archer® FusionPlex® Comprehensive Thyroid & Lung Kit | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Fusion - somatic | ALK, AXL, BRAF, BRAF, CCND1, FGFR1, FGFR2, FGFR3, MET, NRG1, NTRK1, NTRK2, NTRK3, PPARG, RAF1, RET, ROS1, THADA | LOD:3 unique starting sites, 5 unique reads, EF>5% | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | AKT1, ALK, AXL, BRAF, CTNNB1, DDR2, EGFR, ERBB2, GNAS, HRAS, IDH1, IDH2, KRAS, MAP2K1, NRAS, PIK3CA, RET, ROS1, EGFR, MET | LOD: DEPTH > 50, TAF>5% | ||||||||||||||||||||||||||||||||||||||||||
Expression | ALK, AXL, BRAF, CCND1, EGFR, FGFR1, FGFR2, FGFR3, MET, NTRK1, NTRK2, NTRK3, RET, ROS1, THADA, CALC, KRT20, KRT7, PTH, SLC5A5, TTF1 | |||||||||||||||||||||||||||||||||||||||||||
MYE | Archer FusionPlex MyeloidKit | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Fusion - somatic | ABL1, BCR, CBFB, CHD1, CHIC2, CREBBP, CSF1R, ERG, ETV6, ETV6, FGFR1, FGFR1, GLIS2, IKZF3, JAK2, JAK2, KAT6A, KMT2A, KMT2A, MECOM, MKL1, MLLT10, MLLT10, MLLT4, MYC, MYH11, NF1, NF1, NOTCH1, NOTCH1, NUP214, NUP98, NUP98, PDCD1L, PDCD1L, PDGFRA, PDGFRB, PICALM, PML, PML, RARA, RBM15, ROS1, RUNX1, RUNX1, RUNX1T1, SETD2, TCF3, TFG | LOD:3 unique starting sites, 5 unique reads, EF>5% | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | ABL1, AKT3, ASXL1, BRAF, CALR, CBL, CEBPA, CREBBP, CSF3R, DCK, DNM2, DNMT3A, ETV6, EZH2, FBXW7, FGFR2, FGFR3, FLT3, GATA1, GATA2, GNAS, IDH1, IDH2, IKZF3, JAK1, JAK2, JAK3, KDM6A, KIT, KRAS, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PHF6, PML, PTPN11, RARA, SETBP1, SF3B1, SLC29A1, SRSF2, U2AF1, WT1, XPO1 | LOD: DEPTH > 50, TAF>5% | ||||||||||||||||||||||||||||||||||||||||||
CoReLu | The Archer VariantPlex™ Custom Solid Tumor Kit | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | KEAP1, ALK, ATM, NTRK1, NF1, MTOR, ARAF, NTRK3, ERBB2, EGFR, CDKN2A, PIK3CA, STK11, FGFR1, MAP2K1, NTRK2, PTEN, FGFR3, MET, BRAF, CDK12, KRAS, TP53, FGFR2, CDKN2A, CDKN2A, DDR2, RET, ATM, AKT1, CDK12, FGFR1, NTRK1, NTRK3, EGFR, NTRK3, NTRK2, FGFR3, NRAS, FGFR1, CDKN2A, FGFR2, NF1, EGFR, NTRK2, FGFR1, FGFR2, TP53, NF1, FGFR2, RET, EGFR, KRAS, MET. | LOD 5 % | ||||||||||||||||||||||||||||||||||||||||||
VST | The Archer VariantPlex™ Solid Tumor Kit | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | 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 | LOD 5 % | ||||||||||||||||||||||||||||||||||||||||||
VCTL | The Archer VariantPlex™ CTL (Lunng/Thyroid) | LOD 5 % | ArcherDX | |||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | AKT1, ALK, BRAF, CCND1, CTNNB1, DDR2, EGFR, EIF1AX, ERBB2, FGFR1, FGFR2, FGFR3, GNAS, HRAS, IDH1, IDH2, KIT, KRAS, MAP2K1, MDM2, MET, NRAS, PDGFRA, PIK3CA, PTEN, RET, ROS1, STK11, TERT, TP53, TSHR | |||||||||||||||||||||||||||||||||||||||||||
MYE core | The Archer VariantPlex™ Core Myeloid Kit | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | 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 | LOD 5 % | ||||||||||||||||||||||||||||||||||||||||||
SWIFT | Accel-Amplicon EGFR Pathway Panel | IDT | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | EGFR, KRAS, NRAS, BRAF | LOD 5 % | ||||||||||||||||||||||||||||||||||||||||||
VOLA | VariantPlex® BRCA v2 Kit | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | BRCA1, BRCA2 | LOD 10 % | ||||||||||||||||||||||||||||||||||||||||||
VGYN | VariantPlex Biopticka GynCore custom kit | ArcherDX | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | BRCA1, BRCA2, BCOR, MLH1, MSH2, MSH6, PMS2, NRAS, TP53, POLE, POLD1, ARID1A, CTNNB1, KRAS, PIK3CA, PTEN | LOD 5 % | ||||||||||||||||||||||||||||||||||||||||||
KHP | Kappa Hyper Plus | Kapa | ||||||||||||||||||||||||||||||||||||||||||
Mutation - somatic | Any PCR product | LOD 5 % | ||||||||||||||||||||||||||||||||||||||||||
CNV detection using Low Pass Genome sequencing | ||||||||||||||||||||||||||||||||||||||||||||
LPG | CNV detection | IDT | ||||||||||||||||||||||||||||||||||||||||||
CNV - somatic | Chromosomal abberations (duplications and deletions of parts or whole chromosomes) in whole genome available for blood or FFPE samples | LOD: size of the detected CNV >100MBp, sample purity >30% of aberrant tissue, polyploidy not detectable. | ||||||||||||||||||||||||||||||||||||||||||
TCR/Ig clonality, muation, fusion, CNV | ||||||||||||||||||||||||||||||||||||||||||||
EuroClonality NGS (UNIV8) | mutation | ARID1A, ATM, B2M, BCL2, BTG1, BTK, CDKN2A, CDKN2B, CDKN2C, CKS1B, EP300, ERG, FAT1, H1-5, H1-2, H1-3, H1-4, ID3, KLF2, KMT2D, MAP3K14, MAPK1, MYC, PAX5, PHF6, POT1, PTEN, PTPRD, RHOA, RUNX1, SAMHD1, SOCS1, TCF3, TENT5C, TET2, TNFAIP3, TP53, TRAF2, TRAF3, WT1, ABL1, ASXL1, BIRC3, BRAF, CARD11, CCND1, CCND3, CD79A, CD79B, CREBBP, CXCR4, DIS3, DNMT3A, EGR2, EZH2, FBXW7, FOXO1, IDH1, IDH2, IKZF1, IL7R, IRF4, JAK1, JAK2, JAK3, KIT, KRAS, MAP2K1, MEF2B, MYD88, NFKBIE, NOTCH1, NOTCH2, NRAS, NT5C2, PIK3CA, PLCG1, PLCG2, SF3B1, STAT3, STAT5B, STAT6, XPO1 | LOD 5 % | Univ8 genomics | ||||||||||||||||||||||||||||||||||||||||
fusion | STIL, ALK, BCL6, DUSP22, MYC, CD274, PDCDlLG2, CCNDI, BIRC3, KMT2A, BCL2, TCF3, CRLF2 | LOD 5 % | ||||||||||||||||||||||||||||||||||||||||||
CNV | 9pTEL, 13qMDRa, 9pCEN, 13qTEL, 11qCEN, 17pTEL, 11qTEL, 17pCEN, RB1 | LOD 40 % | ||||||||||||||||||||||||||||||||||||||||||
clonality Ig/TCR | IgH, IgK, IgL, TCRA, TCRB, TCRD, TCRG | LOD 5 % | ||||||||||||||||||||||||||||||||||||||||||
Liquid biopsy (mutation testing in patient`s blood) by NGS | ||||||||||||||||||||||||||||||||||||||||||||
MSK Access (MSK-LB) | MSK-Access® kit (Sophia Genetics™) | Sophia Genetics | ||||||||||||||||||||||||||||||||||||||||||
Detection of somatic hotspot mutations in genes (see 1), CNVs in genes (see 2), and gene fusions (see 3) using the MSK-Access® kit (Sophia Genetics™) with massively parallel sequencing (NGS). Evaluated using SOPHIA DDM™ software. LOD for variants: SNVs/INDELs: AF: 0,5%; CNVs: ≥2.95 amplification and ≤1.35 deletion; fusions: ≥3 unique copies.* | *1 - SNV a INDEL/DELIN: AKT1 (3, 6, 7, 8, 9, 10, 11, 12), ALK (5, 9, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29), APC (full CDS), AR (full CDS), ARAF (7, 10, 11, 12, 13, 14, 15, 16), ARID1A (full CDS), ARID2 (8), ASXL1 (full CDS), ATM (full CDS), B2M (1), BAP1 (full CDS), BCL2 (2), BCOR (10), BRAF (11, 12, 13, 14, 15, 16, 17, 18), BRCA1 (full CDS), BRCA2 (full CDS), CARD11 (13), CBFB (2), CBL (9), CCND1 (5), CD79B (5), CDH1 (full CDS), CDK12 (full CDS), CDK4 (full CDS), CDKN2A (full CDS), CHEK2 (full CDS), CIC (5), CREBBP (26, 27, 30), CTCF (6), CTNNB1 (3, 7, 8), DICER1 (27), DIS3 (10), DNMT3A (full CDS), EGFR (3, 6, 7, 15, 18, 19, 20, 21, 22, 23, 24), EIF1AX (1, 2), EP300 (26, 27), ERBB2 (3, 6, 7, 8, 12, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 27), ERBB3 (3, 6, 7, 8, 9, 18, 19, 20, 21, 22, 23, 24), ERCC2 (full CDS), ESR1 (6, 7, 8, 9), EZH2 (16), FBXW7 (full CDS), FGFR1 (12, 13, 14, 15, 16, 17, 18, 19), FGFR2 (3, 5, 7, 8, 9, 11, 12, 13, 14, 15, 16, 17, 18), FGFR3 (7, 9, 11, 12, 13, 14, 15, 16, 17, 18), FGFR4 (13), FLT3 (14, 20), FOXA1 (2), FOXL2 (full CDS), FOXO1 (1), FOXP1 (14), FUBP1 (14), GATA3 (full CDS), GNA11 (5), GNAQ (5), GNAS (6, 8, 9), H3F3A (2), HIST1H3B (full CDS), HRAS (2, 3, 4), IDH1 (4, 5), IDH2 (4), IKZF1 (8), INPPL1 (2), JAK1 (19), JAK2 (14), KDM6A (full CDS), KEAP1 (full CDS), KIT (8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21), KNSTRN (1), KRAS (full CDS), MAP2K1 (2, 3, 4, 5, 6, 7, 8, 9, 10, 11), MAP2K2 (2, 3, 4, 5, 6, 7, 8, 9, 10, 11), MAPK1 (7), MAX (2, 4), MED12 (2, 26), MET (13, 14, 15, 16, 17, 18, 19, 20, 21), MLH1 (full CDS), MSH2 (full CDS), MSH3 (7), MSH6 (full CDS), MTOR (29, 30, 31, 39, 40, 43, 44, 46, 47, 48, 49, 50, 53, 56, 57), MYC (2), MYCN (2), MYD88 (5), MYOD1 (1), NF1 (full CDS), NFE2L2 (2), NOTCH1 (6, 8), NPM1 (11), NRAS (2, 3, 4), NTRK1 (13, 14, 15, 16, 17), NTRK2 (15, 16, 17, 18, 19), NTRK3 (15, 16, 17, 18, 19, 20), NUP93 (2), PAK5 (4), PALB2 (full CDS), PDGFRA (5, 6, 7, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21), PHF6 (5, 9), PIK3CA (2, 3, 5, 6, 8, 9, 10, 11, 12, 14, 19, 20, 21), PIK3CB (24), PIK3R1 (10, 11, 13, 14), PIK3R2 (10), PIM1 (1), PMS2 (full CDS), POLE (1, 9, 13), POT1 (6), PPM1D (full CDS), PPP2R1A (5, 6), PPP6C (7), PRKCI (15), PTCH1 (full CDS), PTEN (full CDS), PTPN11 (3, 13), RAC1 (2), RAD54L (10), RAF1 (7, 10, 11, 12, 13, 14, 15, 16, 17), RB1 (full CDS), RET (8, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19), RHOA (2, 3), RIT1 (5), ROS1 (36, 37, 38, 39, 40, 41, 42), RRAS2 (1, 3), RXRA (10), SETD2 (7), SF3B1 (14, 15, 18), SMAD3 (6), SMAD4 (full CDS), SMARCA4 (19, 25, 26), SMARCB1 (9), SOS1 (5), SPOP (4, 5), SRSF2 (1), STAT3 (20), STK11 (full CDS), STK19 (1), TCF7L2 (14), TET2 (full CDS), TGFBR1 (4, 9), TGFBR2 (8), TP53 (full CDS), TP63 (9, 14), TSC1 (full CDS), TSC2 (full CDS), U2AF1 (2, 6), VHL (full CDS), XPO1 (15) | LOD 0,5 % | ||||||||||||||||||||||||||||||||||||||||||
2 - CNV: AKT1, ALK, APC, AR, ARAF, ARID1A, ASXL1, ATM, BAP1, BRAF, BRCA1, BRCA2, CDH1, CDK12, CDK4, CDKN2A, CHEK2, CREBBP, DNMT3A, EGFR, EP300, ERBB2, ERBB3, ERCC2, ESR1, FBXW7, FGFR1, FGFR2, FGFR3, FOXA1, FOXL2, GATA3, KDM6A, KEAP1, KIT, KRAS, MAP2K1, MAP2K2, MET, MLH1, MSH2, MSH6, MTOR, MYC, MYCN, NF1, NTRK1, NTRK2, NTRK3, PAK5, PALB2, PDGFRA, PIK3CA, PIK3R1, PMS2, PPM1D, PTCH1, PTEN, RAF1, RB1, RET, ROS1, SF3B1, SMAD4, SMARCA4, STK11, TET2, TP53, TSC1, TSC2, VHL | LOD CNVs: ≥2.95 amplification | |||||||||||||||||||||||||||||||||||||||||||
3 - Fusion: ALK (17, 18, 19), BRAF (7, 8, 9, 10), EGFR (7, 17, 24, 25, 26), ETV6 (4, 5), FGFR2 (16, 17), FGFR3 (15, 16, 17, 18), MET (13, 14), NTRK1 (3, 7, 8, 9, 10, 11, 12), RET (7, 8, 9, 10, 11), ROS1 (30, 31, 32, 33, 34, 35) | LOD fusions: ≥3 unique copies | |||||||||||||||||||||||||||||||||||||||||||
Microbiology NGS | ||||||||||||||||||||||||||||||||||||||||||||
Microbiome | Microbiome sequencing | LOD NA | Integrated DNA Technologies | |||||||||||||||||||||||||||||||||||||||||
Any microorganism with 16S rRNA | sequencing of DNA encoding 16S rRNA | |||||||||||||||||||||||||||||||||||||||||||
Methylation analysis chip | ||||||||||||||||||||||||||||||||||||||||||||
INF | InfiniumMethylation EPICbeadChip kit | Targets 850,000 CpGs. Quantitatively interrogates selected methylation sites across the genome. | LOD 10-20 % | Illumina | ||||||||||||||||||||||||||||||||||||||||
Sanger sequencing | ||||||||||||||||||||||||||||||||||||||||||||
IDH1 + IDH2 | sequencing of exons 4 of IDH1 and IDH2 | LOD 10 %, ** | LDT | |||||||||||||||||||||||||||||||||||||||||
TERT | mutation promotor region by sequencing | LOD 10 %, ** | LDT | |||||||||||||||||||||||||||||||||||||||||
Mutation by Real-Time PCR | ||||||||||||||||||||||||||||||||||||||||||||
Thrombophylic mutation - F2, F5 | real time PCR, test CE‐IVD | LOD NA, ** | Generi Biotech | |||||||||||||||||||||||||||||||||||||||||
Celiac disease - HLA DQ2, DQ8 | real time PCR, test CE‐IVD | LOD NA, ** | Elisabeth Pharmacon | |||||||||||||||||||||||||||||||||||||||||
F13, MTHFR, PAI-1 | real time PCR, test CE‐IVD | LOD NA, ** | Generi Biotech | |||||||||||||||||||||||||||||||||||||||||
BRAF / NRAS (FFPE) - CRC | real time PCR; Idylla™ NRAS/BRAF Mutation Test CE‐IVD | LOD from 1 %, ** | Biocartis | |||||||||||||||||||||||||||||||||||||||||
KRAS (FFPE) - CRC | real time PCR; Idylla™ KRAS Mutation Test CE‐IVD | LOD from 1 %, ** | Biocartis | |||||||||||||||||||||||||||||||||||||||||
EGFR (FFPE) | real time PCR; Idylla™ EGFR Mutation Test CE‐IVD | LOD from 1 %, ** | Biocartis | |||||||||||||||||||||||||||||||||||||||||
MSI (FFPE) | real time PCR; Idylla™ MSI Mutation Test CE‐IVD | LOD 20 %, ** | Biocartis | |||||||||||||||||||||||||||||||||||||||||
HFE - codons 63,63,282 | real time PCR; gb GENETIC HFE Test CE‐IVD | LOD NA, ** | Generi Biotech | |||||||||||||||||||||||||||||||||||||||||
PsorX | real-time PCR; PsorX-LabDisk CE-IVD | LOD NA, ** | Dermagnostix | |||||||||||||||||||||||||||||||||||||||||
Mutation by LAMP | ||||||||||||||||||||||||||||||||||||||||||||
metabolic activity of DPY (blood, plasma, DNA) | mutation in DPYD gen using Loop-Mediated Isothermal Amplification | ** | Lacar | |||||||||||||||||||||||||||||||||||||||||
Translocation/Targeted fusioun transcript analysis / deletion / amplification | ||||||||||||||||||||||||||||||||||||||||||||
19q13/19p13 (enumeration) | FISH | ratio 0,7 | ZytoVision Gmbh | |||||||||||||||||||||||||||||||||||||||||
1p36/1q25 (enumeration) | FISH | ratio 0,7 | ZytoVision Gmbh | |||||||||||||||||||||||||||||||||||||||||
ALK 2p23 (break-apart) | FISH | ≥15% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
BCL2 18q21 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
BCL6 3q27 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
BIRC3 (API2) / MALT1 t(11;18) (fusion) | FISH | ≥20% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
CCND1 11q13 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
CCND1/IGH t(11;14) (fusion) | FISH | ≥20% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
CDKN2A / CEP 9 9p21 (enumeration) | FISH | ≥30% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
CSF1 1p13.3 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
DEK 6p22.2 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
EGFR/CEN 7 7p12 (enumeration) | FISH | EGFR ≥2; CEP7 ≥3 copies >10% | Abbott Molecular | |||||||||||||||||||||||||||||||||||||||||
ERG 21q22.2 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
ETV6 12p13 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
EWSR1 22q12.2 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
FLI1 11q24.3 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
FUS 16p11 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
HER2/CEN 17 17q12 (enumeration) | FISH | viz USCAP guidelines 2023 | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
HMGA2 12q15 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
IGH 14q32.33 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
IGH/BCL2 t(14,18) (fusion) | FISH | ≥20% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
IGH/MYC t(8;14) (fusion) | FISH | ≥20% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
IRF4 6p25 (brak-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
MALT1 18q21 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
MAML2 11q21 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
MDM2/CEN 12 12q14.3-q15 (enumeration) | FISH | ≥2 | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
MYB 6q23.3 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
MYBL1 8q13.1 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
MYC 8q24.21 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
MYC 8q24.21 (enumeration) | FISH | ≥2 | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
MYCN 2p24.3 (enumeration) | FISH | ≥2 | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
NR4A3 9q22 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
PDGFB 22q13 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
PHF1 6p21.3 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
PLAG1 8q12 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
PTEN / CEP10 10q23 (enumeration) | FISH | >50% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
ROS1 6q22.1 (break-apart) | FISH | ≥15% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
TFE3 Xp11.23 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
TFEB 6p21 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
TFEB 6p21 (enumeration) | FISH | >10 copies in ≥20% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
USP6 17p13 (break-apart) | FISH | ≥10% | HealthCare Biotechnology Co., Ltd. | |||||||||||||||||||||||||||||||||||||||||
Microbiology | ||||||||||||||||||||||||||||||||||||||||||||
Bartonella spp. | PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Borrelia burgdorferi | nested PCR | *LOD ≥1 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Brucella spp. | PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Chlamydophyla psittaci | PCR | *LOD ≥1 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Chlamydia trachomatis | PCR | *LOD ≥1 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Francisella tularensis | real-time PCR | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Listeria spp. | PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Leishmania spp. | PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Mycobacterium spp. | nested PCR | *LOD ≥1 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Mycobacterium tuberculosis complex | nested PCR | *LOD ≥1 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Treponema pallidum | real-time PCR | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Tropheryma whipplei | semi-nested PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Yersinia enterocilitica | nested PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Yersinia pseudotuberculosis | PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Respiratory pathogens - bacteria | real-time PCR, Mycoplasma pneumoniae, Chlamydophila pneumoniae, Legionella pneumophila, Haemophilus influenzae, Streptococcus pneumoniae, Bordetella pertussis, Bordetella parapertussis | *LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Virology | ||||||||||||||||||||||||||||||||||||||||||||
Adenovirus | real-time quantitative PCR | LOD ≥10 organisms/reaction | R-gene | |||||||||||||||||||||||||||||||||||||||||
BK-JC virus | real-time PCR | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
BKV | real-time quantitative PCR | LOD ≥10 organisms/reaction | R-gene | |||||||||||||||||||||||||||||||||||||||||
CMV | real-time quantitative PCR | LOD ≥10 organisms/reaction | R-gene | |||||||||||||||||||||||||||||||||||||||||
EBER | in-situ hybridization | LOD ≥1 organisms/slide | Roche | |||||||||||||||||||||||||||||||||||||||||
EBV | real-time PCR | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Enterovirus | real-time quantitative PCR | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
HHV-6 | real-time PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
HHV-8 | PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
HPV-HR/LR | PCR | *LOD ≥1184 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
HPV - exact type | multiplex real-time PCR and sequencing | LOD ≥1184 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
HSV-1 | real-time PCR | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
HSV-2 | real-time PCR | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Merkel cell polyomavirus | real-time PCR | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Molluscum contagiosum virus | PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Parvovirus B19 | real-time quantitative PCR | LOD ≥10 organisms/reaction | R-gene | |||||||||||||||||||||||||||||||||||||||||
HPV E6-E7 type 16,18,31,33,35,45 | PCR | LOD ≥1000 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Varicella zoster | real-time PCR | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Respiratory pathogens - viruses 1 | real-time PCR, Influenza virus A (H1, H3 a H1pdm09), Influenza virus B, RSV A, RSV B | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Respiratory pathogens - viruses 2 | real-time PCR, Adenovirus, Metapneumovirus, Enterovirus a Parainfluenza virus 1- 4 | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
Respiratory pathogens - viruses 3 | real-time PCR, Bocavirus, Rhinovirus, Coronavirus NL63, Coronavirus 229E, Coronavirus OC43 | LOD ≥100 organisms/reaction | Seegene | |||||||||||||||||||||||||||||||||||||||||
SARS-CoV-2 | real-time PCR | LOD ≥100 organisms/reaction | Seegene, Zybio | |||||||||||||||||||||||||||||||||||||||||
Parazitology | Echinococcus granulosus / multilocularis | PCR | *LOD ≥10 organisms/reaction | LDT | ||||||||||||||||||||||||||||||||||||||||
Leishmania spp. | PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Toxoplasma spp. | PCR | *LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Mycology | PCR and sequencing (ITS rDNA) | LOD ≥10 organisms/reaction | LDT | |||||||||||||||||||||||||||||||||||||||||
Clonality | clonality IgK/IgL | BIOMED-2 PCR and fragment analysis | LOD 5-10 % | LDT | ||||||||||||||||||||||||||||||||||||||||
clonality IgH/IgK/IgL | BIOMED-2 PCR and fragment analysis | LOD 5-10 % | LDT | |||||||||||||||||||||||||||||||||||||||||
clonality IgH | BIOMED-2 PCR and fragment analysis | LOD 5-10 % | LDT | |||||||||||||||||||||||||||||||||||||||||
clonality TCRb/TCRg | BIOMED-2 PCR and fragment analysis | LOD 1-5 % | LDT | |||||||||||||||||||||||||||||||||||||||||
Others | ||||||||||||||||||||||||||||||||||||||||||||
OncoMate™ MSI Dx | fragment analysis - microsatellite instability | LOD 20 % | Promega | |||||||||||||||||||||||||||||||||||||||||
methylation of MGMT promotor | methylation specific PCR | LOD 10 % | LDT | |||||||||||||||||||||||||||||||||||||||||
methylation of MLH1 promotor | methylation specific PCR | LOD 10 % | LDT | |||||||||||||||||||||||||||||||||||||||||
OMNI - Omniplex for Molar preganancy | Super STaR Optima - STR markers (13,18,21,X,Y) | LOD 30 % | Cybergene AB | |||||||||||||||||||||||||||||||||||||||||
Prenatal screening | ||||||||||||||||||||||||||||||||||||||||||||
Anuepoidy 13, 18, 21, XY, triploidy, vanishing twin | PANORAMA test | LOD 2,8 % | NATERA | |||||||||||||||||||||||||||||||||||||||||
Anuepoidy 13, 18, 21, XY, triploidy, vanishing twin+DiGeorge (del22q) | PANORAMA test | LOD 2,8 % | NATERA | |||||||||||||||||||||||||||||||||||||||||
Anuepoidy 13, 18, 21, XY, triploidy, vanishing twin + microdeletion panel | PANORAMA test | LOD 2,8 % | NATERA | |||||||||||||||||||||||||||||||||||||||||
Nucleid acid extraction and quality control | ||||||||||||||||||||||||||||||||||||||||||||
DNA extraction and control genes | QIAsymphony DSP DNA kit + PCR LDT | QIAgen | ||||||||||||||||||||||||||||||||||||||||||
RNA extraction and control genes | Maxwell RSC RNA FFPE Kit + PCR LDT | Promega | ||||||||||||||||||||||||||||||||||||||||||
DNA quality control - for special purposes | FFPE DNA QC kit - qPCR-based quality control (delta Ct value) | Illumina | ||||||||||||||||||||||||||||||||||||||||||
RNA quality control - for special purposes | RNA ScreenTape - electophoresis and DV200 analysis on 2200 TapeStation system | Agilent | ||||||||||||||||||||||||||||||||||||||||||
Clinical report | Report for Mutation or fusion of 50/250/500 genes | For in vitro examination of next-generation sequencing (NGS) data or genetic and molecular alteration data to provide information to aid in the determination of treatment options based on genetic biomarkers and medical guidelines | price depends on the panel | Molecular Health GmbH |
* = positive samples confirmed by Sanger sequencing
** = good quality of nucleic acid required
LOD - limit of detection
NA - not aplicable