懷疑病類

• 適用於次世代定序全外顯子定序檢測、次世代定序全基因體定序檢測項目。
• 上述檢驗使用次世代定序(NGS)方式分析此檢體基因之密碼區及exon-intron交界區(的DNA序列是否發生突變，針對基因內單一核苷酸(single nucleotide)或是小片段的缺失或插入(small indel)變異進行分析，仍有可能部分基因序列因序列捕捉與定序深度不足而產生變異位點偵測疏漏。若突變為大片段插入(insertion)、倒轉(inversion)或其他複雜性結構變異 (complex structural variation)、組織特異性的鑲嵌(tissue-specific mosaicism)、未偵測的區域(例如promoter, intron等)和定序困難區域(例如pseudogene)可能無法藉由此方式檢驗出。而Facioscapulohumeral muscular dystrophy的D4Z4 repeats變化或短縱列重複(short tandem repeat)序列(例如: Myotonic Dystrophy Type 1的DMPK repeat)，無法以此方式檢測出。
• 報告呈現之分析結果係依據當次提供之臨床臆斷、使用當次之生物資訊分析軟體與各資料庫版本，非臨床臆斷相關之變異點位(含帶因狀態)則不列出。若出現新的臨床症狀時，可請臨床醫師安排進行重新分析。

1. 小兒心臟疾病(Pediatric CV)套組基因列表，共446個基因：

   A2ML1, AARS2, ABCB4, ABCC9, ACAD8, ACAD9, ACADS, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, ACVRL1, AGK, AGL, AGPAT2, AGTR1, AHCY, AIP, AKAP9, ALG10, ALMS1, ALPK3, AMN, ANK2, ANKRD1, ANO5, APC2, APOA1, APOB, APOPT1, ARSB, ASPH, ATP1B1, ATP2A2, ATPAF2, AVIL, BAG3, BIN1, BMPR1A, BMPR1B, BMPR2, BOLA3, BRAF, BSCL2, C1QBP, CACNA1C, CACNA1D, CACNA1S, CACNA2D1, CACNA2D4, CACNB2, CALM1, CALM2, CALM3, CALR, CALR3, CAPN3, CASQ2, CAV1, CAV3, CBL, CCDC78, CDKN1C, CHD7, CHKB, CHRM2, CIDEC, CNGA1, CNGA2, CNGA3, CNGA4, CNOT1, COA5, COA7, COL4A1, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ9, CORIN, COX10, COX14, COX15, COX20, COX6B1, CPT1A, CPT2, CRELD1, CRYAB, CSRP3, CTC1, CTF1, CTNNA3, CUBN, CXADR, D2HGDH, DAG1, DBH, DCAF8, DCP1B, DES, DMD, DNAJC19, DOLK, DPH2, DPP10, DPP6, DSC2, DSC3, DSG2, DSP, DTNA, DYSF, EDN1, EDNRA, EIF2AK4, ELAC2, ELN, EMD, ENG, EPG5, ETFA, ETFB, ETFDH, EYA4, FASTKD2, FBN1, FBXL4, FBXO32, FGA, FGF12, FHL1, FHL2, FIG4, FKRP, FKTN, FLNA, FLNC, FOXC1, FOXF1, FOXH1, FOXRED1, FXN, G6PC3, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GDF2, GFM1, GINS3, GJA1, GJA5, GLA(有IVS4+919G>A), GLB1, GMPPB, GNAS, GNB5, GNE, GPC3, GPC4, GPD1L, GSN, GTPBP3, GUSB, GYG1, GYS1, GYS2, H19, HADHA, HADHB, HAMP, HCCS, HCN4, HDDC2, HEY2, HFE, HFE2, HOOK3, HPS1, HRAS, HSD17B10, IBA57, IDH2, IDUA, IGF2, IGHMBP2, IL31RA, ILK, ISPD, ITGA6, ITGB4, JAG1, JPH2, JUP, KANK2, KCNA5, KCNAB2, KCNB2, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4, KCNH2, KCNJ16, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNT1, KRAS, KRT17, L2HGDH, LAMA2, LAMA4, LAMP2, LARGE, LDB3, LDLR, LDLRAP1, LIG3, LIMS2, LIPE, LITAF, LMNA, LMNB2, LPAR6, LYZ, LZTR1, MAP2K1, MAP2K2, MAPRE2, MEFV, MIB1, MLYCD, MRPL3, MRPL44, MTO1, MTSS1, MURC, MUT, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO18B, MYO6, MYOT, MYOZ1, MYOZ2, MYPN, NCOA7, NDRG4, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NEBL, NEU1, NEXN, NF1, NF2, NFIX, NKX2-5, NODAL, NOS1AP, NOS2, NOTCH1, NOTCH2, NOTCH3, NPPA, NRAS, NSD1, NSUN2, NUBPL, OSMR, PCCA, PCCB, PCSK9, PDLIM3, PDSS1, PDSS2, PERP, PET100, PEX19, PEX7, PHYH, PIK3CA, PKP2, PKP4, PLEC, PLEKHM2, PLN, PMM2, PNN, PNPLA2, POLG, POMGNT1, POMT1, POMT2, PPARG, PPP1R3A, PRDM16, PRKAG2, PRKAR1A, PRKCA, PSEN1, PSEN2, PTPLA, PTPN11, PXDNL, RAB3GAP2, RAF1, RANGRF, RASA1, RASA2, RBCK1, RBM20, RFFL, RIT1, RMND1, RNF207, RNF213, RRAS, RYR2, SAA1, SCN10A, SCN1B, SCN2B, SCN3B, SCN4A, SCN4B, SCN5A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA, SELENON, SEMA3A, SERPINE1, SETD6, SGCA, SGCB, SGCD, SGCG, SGOL1, SHOC2, SIRT3, SLC19A2, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC8A1, SLMAP, SMAD1, SMAD3, SMAD4, SMAD5, SMAD9, SMCHD1, SNTA1, SOS1, Sox17, SPEG, SPRED1, SRL, SUCLG1, SYNE2, TACO1, TAZ, TBX1, TBX20, TBX4, TBX5, TCAP, TECRL, TFAP2B, TGFB3, TGFBR1, TGFBR2, THBS1, TIMMDC1, TLL1, TMEM126B, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOPBP1, TPM1, TRDN, TRIM32, TRIM37, TRIM63, TRPC6, TRPM4, TRPM7, TSFM, TTN, TTR, TWNK, TXNRD2, UQCC2, UQCRB, UQCRC2, UQCRQ, VCL, VCP, WFS1, WT1, XK, YARS2, ZFPM2, ZIC3

2. 腎臟疾病疾病(Hypokalemia/Renal disease)套組基因列表，共523個基因：

   ABCC6, ABCC8, ABCG2, ACE, ACTB, ACTN4, ADA2, ADAMTS13, ADCK4, ADCY10, AGPAT2, AGT, AGTR1, AGXT, AHI1, ALAD, ALAS2, ALG13, ALG8, ALG9, ALMS1, ALPL, AMN, ANKS6, ANLN, AP2S1, APOA1, APOC2, APOE, APOL1, APOPT1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC5, ATG5, ATP1A1, ATP2B3, ATP6V0A4, ATP6V1B1, ATP7B, ATXN10, AVP, AVPR2, B2M, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BLK, BMP4, BMP7, BMPR2, BRAF, BSCL2, BSND, C1S, C2, C3, C3AR1, C4BPA, C5, C7, C8A, C8ORF37, C9, CA2, CACNA1D, CACNA1H, CACNA1S, CAPN12, CASR, CAV1, CC2D2A, CCDC41, CCL2, CD151, CD2AP, CD46, CDC5L, CDC73, CDK20, CDKN1C, CEL, CEP164, CEP290, CEP41, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFTR, CHD1L, CHD7, CHRM3, CHRNA3, CISD2, CLCN2, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN16, CLDN19, CLU, CNNM2, COA8, COL11A1, COL4A1, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ7, COQ9, COX10, COX14, COX20, COX6B1, COX8A, CPLANE1, CPOX, CPT2, CR1, CR2, CRB2, CREBBP, CRKL, CTNS, CUBN, CUL3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, CYP24A1, CYP27B1, CYP2R1, DCDC2, DGKE, DHCR7, DLC1, DLX5, DLX6, DMP1, DNASE1, DNASE1L3, DSTYK, DYNC2H1, DZIP1L, EBP, EDNRA, EGF, EHHADH, EIF2AK3, ELP1, EMP2, ENPP1, EYA1, F12, FAM20A, FAM58A, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FASTKD2, FAT1, FBXW7, FCGR2A, FCGR3B, FCN1, FECH, FGA, FGF10, FGF23, FGFR1, FGFR2, FLCN, FN1, FOXC1, FOXC2, FOXI1, FOXP3, FRAS1, FREM1, FREM2, FXYD, FXYD2, G6PC, GALNT3, GANAB, GAPVD1, GATA3, GATM, GCK, GCM2, GDNF, GLA, GLB1, GLI3, GLIS2, GLIS3, GNA11, GNAS, GPC3, GREM1, GRHPR, GRIP1, GSN, HBB, HFE, HMBS, HNF1A, HNF1B, HNF4A, HOGA1, HOXA13, HOXD13, HPRT1, HPS1, HPSE2, HSD11B2, HSD3B2, IFT122, IFT140, IFT172, IFT43, INF2, INPP5B, INPP5E, INS, INVS, IQCB1, ITGA3, ITGA6, ITGA8, ITGB4, ITSN1, ITSN2, JAG1, KAL1, KANK1, KANK2, KANK4, KANSL1, KAT6B, KCNA1, KCNJ1, KCNJ10, KCNJ11, KCNJ12, KCNJ2, KCNJ5, KCNK3, KCNK5, KCNMB1, KCTD1, KIF7, KL, KAL1 (ANOS1), KLHL3, KRAS, LAGE3, LAMA5, LAMB2, LCAT, LCORL, LDHA, LMNA, LMX1B, LPIN1, LPL, LRP2, LRP4, LRP5, LYZ, LZTFL1, MAFB, MAGED2, MAGI2, MASP1, MASP2, MC4R, MCP, MEFV, MET, MKKS, MKS1, MMACHC, MMP14, MMUT, MNX1, MOCOS, MUT, MVK, MYCN, MYH9, MYO1E, MYOG, NEDD4L, NEK1, NEK8, NEUROD1, NLRP3, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B1, NR3C1, NR3C2, NSD1, NSDHL, NTHFD1, NUP107, NUP205, NUP93, NXF5, OCRL, OFD1, OPLAH, OSGEP, PALB2, PAX2, PAX4, PBX1, PCBD1, PDSS1, PDSS2, PDX1, PET100, PGK1, PHB, PHEX, PIEZO2, PKD2, PKHD1, PLCE1, PLCG2, PLG, PMM2, PODXL, PPOX, PPP3CA, PRKCSH, PRODH, PROKR2, PRPS1, PTH1R, PTPN11, PTPRO, RAD51C, REN, RET, RMND1, ROBO2, ROR2, RPGRIP1L, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RRM2B, SALL1, SALL4, SARS2, SCARB1, SCARB2, SCN4A, SCNN1A, SCNN1B, SCNN1D, SCNN1G, SCO1, SDCCAG8, SEC61A1, SEC63, SEMA3E, SGPL1, SI, SIAH1, SIX1, SIX2, SIX5, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A7, SLC16A12, SLC22A12, SLC26A1, SLC26A3, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC37A4, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC4A5, SLC5A1, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A1, SLC9A3, SLC9A3R1, SLIT2, SLX4, SMAD9, SMARCAL1, SMC1A, SOX17, SOX18, SRCAP, STAR, STK39, STRA6, STS, STX16, SYNPO, TACO1, TCTN1, TCTN2, TCTN3, TENC1, TFAP2A, THBD, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2, TNXB, TP53RK, TP63, TRIM32, TRNT1, TRPC6, TRPM6, TSC1, TSC2, TTC21B, TTC8, TTR, TXNL4A, UCP3, UMOD, UPK3A, UQCC2, UROD, UROS, USF2, VDR, VHL, VIPAS39, VPS33B, VWF, WAS, WDPCP, WDR19, WDR35, WDR60, WDR72, WDR73, WFS1, WNK1, WNK4, WNT4, WNT5A, WT1, WT1-AS, XDH, XPNPEP3, XRCC4, ZNF423和部分TPRKB, WHAMM, KAT2B, ALG1, NOS3, PKD1, NF1

3. 遺傳性癌症症候群(hereditary cancer)套組基因列表,共191個基因：

   ACD, AKT1, ALK, ANKRD26, APC, ARMC5, ASCC1, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, BUB1B, BUB3, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK1, CHEK2, CREBBP, CTC1, CTNNA1, CTR9, CYLD, DDB2, DDX11, DICER1,  DKC1, DNAJC21, EGFR, ELANE, EPCAM, EPHB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ESR2, ETV6, EWSR1, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FH, FLCN, G6PC3, GALNT12, GATA2, GDNF, GFI1, GPC3, GREM1, GRHL2, HABP2, HAX1, HNF1A, HOXB13, HRAS, IPMK, KIF1B, KIT, KLLN, LIG4, LZTR1, MAX, MDH2, MEN1, MET, MITF, MLH1, MLH3, MPL, MRE11A, MSH2, MSH3, MSH6, MSR1, MTAP, MUC5B, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, OGG1, PALB2, PALLD, PARK2, PARN, PAX5, PDGFRA, PHOX2B, PIK3CA, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, POU6F2, PPM1D, PRF1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RINT1, RNASEL, RNF43, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEMA4A, SFTPA1, SFTPA2, SH2B3, SLX4, SMAD4, SMAD9, SMARCA4, SMARCB1, SQSTM1, STK11, SUFU, TERC, TERF2IP, TERT, TINF2, TMEM127, TNFRSF11A, TP53, TSC1, TSC2, USB1, VHL, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC3

4. 與健康相關(ACMG SF v3.2)套組基因列表，共81個基因+G6PD基因：

   ACTA2, ACTC1, ACVRL1, APC, APOB, ATP7B, BAG3, BMPR1A, BRCA1, BRCA2, BTD, CACNA1S, CALM1, CALM2, CALM3, CASQ2, COL3A1, DES, DSC2, DSG2, DSP, ENG, FBN1, FLNC, G6PD, GAA, GLA, HFE, HNF1A, KCNH2, KCNQ1, LDLR, LMNA, MAX, MEN1, MLH1, MSH2, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, OTC, PALB2, PCSK9, PKP2, PMS2, PRKAG2, PTEN, RB1, RBM20, RET, RPE65, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TMEM127, TMEM43, TNNC1, TNNI3, TNNT2, TP53, TPM1, TRDN, TSC1, TSC2, TTN, TTR, VHL, WT1