檢驗方法：
次世代定序 (Next Generation Sequencing, NGS)
生物參考區間(REFERENCE RANGE)：不適用
干擾物質：
臨床意義 or 實驗室解釋：
基因檢測（324基因）
1. 檢測標的基因：ABL1 ACVR1B AKT1 AKT2 AKT3 ALK ALOX12B AMER1(FAM1238) APC AR ARAF ARFRP1 ARID1A ASXL1 ATM ATR ATRX AURKA AURKB AXIN1 AXL BAP1 BARD1 BCL2 BCL2L1 BCL2L2 BCL6 BCOR BCORL1 BRAF BRCA1 BRCA2 BRD4 BRIP1 BTGl BTG2 BTK C11ORF30(EMSY) CALR CARD11 CASPS CBFB CBL CCND1 CCND2 CCND3 CCNE1 CD22 CD274(PD-L1) CD70 CD79A CD79B CDC73 CDH1 CDK12 CDK4 CDK6 CDKS CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEBPA CHEK1 CHEK2 CIC CREBBP CRKL CSFlR CSF3R CTCF CTNNAl CTNNB1 CUL3 CUL4A CXCR4 CYP17A1 DAXX DDR1 DDR2 D!S3 DNMT3A DOT1L EED EGFR EP300 EPHA3 EPHB1 EPHB4 ERBB2 ERBB3 ERBB4 ERCC4 ERG ERRFl1 ESR1 EZH2 FAM46C FANCA FANCC FANCG FANCL FAS FBXW7 FGF10 FGF12 FGF14 FGF19 FGF23 FGF3 FGF4 FGF6 FGFR1 FGFR2 FGFR3 FGFR4 FH FLCN FLT1 FLT3 FOXL2 FUBP1 GABRA6 GATA3 GATA4 GATA6 GID4(C170RF39) GNA11 GNA13 GNAQ GNAS GRM3 GSK3B H3F3A HDAC1 HGF HNFlA HRAS HSD3B1 1D3 IDH1 IDH2 IGF1R IKBKE IKZF1 INPP4B IRF2 IRF4 IRS2 JAK1 JAK2 JAK3 JUN KDMSA KDMSC KDM6A KDR KEAP1 KEL KIT KLHL6 KMT2A(MLL) KMT2D(MLL2) KRAS LTK LYN MAF MAP2K1(MEK1) MAP2K2(MEK2) MAP2K4 MAP3K1 MAP3K13 MAPK1 MCL1 MDM2 MDM4 MED12 MEF2B MEN1 MERTK MET MITF MKNK1 MLH1 MPL MRE11A MSH2 MSH3 MSH6 MST1R MTAP MTOR MUTYH MYC MYCL(MYCL1) MYCN MYDSS NBN NF1 NF2 NFE2L2 NFKBIA NKX2-1 NOTCH1 NOTCH2 NOTCH3 NPM1 NRAS NTSC2 NTRKl NTRK2 NTRK3 P2RY8 PALB2 PARK2 PARP1 PARP2 PARP3 PAXS PBRM1 PDCD1(PD-1I PDCDl LG2(PD-L2) PDGFRA PDGFRB PDK1 PIK3C2B PIK3C2G PIK3CA PIK3CB PIK3R1 PIM1 PMS2 POLD1 POLE PPARG PPP2R1A PPP2R2A PRDM1 PRKARlA PRKCI PTCH1 PTEN PTPN11 PTPRO QKI RAC1 RAD21 RAD51 RAD51B RAD51C RAD51D RAD52 RAD54L RAF1 RARA RB1 RBM10 REL RET RICTOR RNF43 ROS1 RPTOR SDHA SDHB SDHC SDHD SETD2 SF381 SGKl SMAD2 SMAD4 SMARCA4 SMARCB1 SMO SNCAIP SOCS1 SOX2 SOX9 SPEN SPOP SRC STAG2 STAT3 STK11 SUFU SYK TBX3 TEK TET2 TGFBR2 TIPARP TNFAIP3 TNFRSF14 TP53 TSC1 TSC2 TYR03 U2AF1 VEGFA VHL WHSC1(MMSET) WHSC1L1 WT1 XP01 XRCC2 ZNF217 ZNF703
2. 數據判讀：點突變(SNV)/小片段插入及缺失(InDel)/拷貝數變異(CNV)/ 重排 Rearrang ement / 腫瘤變異負荷(Tumor mutation burden)TMB/微衛星不穩定 (Microsatellite instability) MSI / 雜合性缺失(Loss of heterozygosity)LOH