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 次世代定序基因列表

 次世代定序套組檢驗

  1. 次世代定序肺部疾病套組囊狀纖維化基因變異檢測
    Next Generation Sequencing - pulmonary disease panel - cystic fibrosis
    CFTR, DNAH11, DNAH5, SERPINA1
  2. 次世代定序威爾森氏症基因變異檢測
    Next Generation Sequencing - Wilson disease
    ATP7B
  3. 次世代定序骨骼關節疾病相關基因變異檢測
    Next Generation Sequencing – Bone and joint diseases associated genes variation test (OI, EDS, Marfanoid)
    PLOD2, SERPINF1, COL1A1, COL1A2, MBTPS2, PLS3, PPIB, IFITM5, CRTAP, LEPRE1, SERPINH1, FKBP10, SP7, BMP1, TMEM38B, WNT1, SPARC, P4HB, SEC24D, TNXB, B4GALT7, SLC39A13, COL5A1, COL5A2, COL3A1, ADAMTS2, PLOD1, ZNF469, FKBP14, CHST14, DSE, B3GALT6, IKBKG, TNFRSF11A, TCIRG1, TNFSF11, CLCN7, OSTM1, FBN1, FBN2, CBS, TGFBR1, TGFBR2, SMAD3, ACTA2, FLNA, FLNB, RIN2, LRP5, XYLT2, COL2A1, TRAPPC2, TRPV4, CREB3L1, TGFB2, TGFB3, ALX4, ERF, FGFR1, FGFR2, FGFR3, MSX2, PRDM5, SMAD6, TCF12, TWIST1, ZIC1
  4. 次世代定序代謝性疾病相關基因變異檢測
    Next Generation Sequencing – Metabolic diseases associated genes variation test (LSD, NCL, channopathy)
    ARSB, ASAH1, ATP13A2, CTSA, CTSC, CTSK, DTNBP1, GALNS, GBA, GM2A, GNE, GNPTAB, GNS, GRN, GUSB, HEXB, HGSNAT, HYAL1, IDS, IDUA, IVD, LIPA, MAN2B1, MANBA, MCOLN1, NAGA, NAGLU, NEU1, NPC1, NPC2, SGSH, SMPD1, GNPTG, LAMP3, PSAP, GLA, ARSA, FUCA1, GALC, GLB1, HEXA, LAMP2, SLC17A5, SUMF1, GAA, DPM1, DPM2, DPM3, CLN3, CLN5, CLN6, CLN8, CTNS, CTSD, CTSF, DNAJC5, MFSD8, PPT1, TPP1, ABCD1, ACOX1, ARSE, EBP, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PPARA, ACAD9, ACADL, ACADM, ACADVL, CPT1B, CPT2, ETFA, ETFB, ETFDH, GYS1, HADHA, HADHB, LPIN1, LPIN2, PFKM, PGAM2, PGM1, PHKA1, PYGM, SLC22A5, TYMP, GJB2, ELN, LMNB1, CSF1R, PRRT2
  5. 次世代定序神經肌肉疾病相關基因變異檢測
    Next Generation Sequencing – Neuromuscular diseases associated genes variation test (LGMD, CMT, FAOD)
    AARS, AIFM1, ARHGEF10, ATP1A1, BICD2, BSCL2, COX6A1, CTDP1, DCTN1, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GN B4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MICAL1, MME, MORC2, MPZ, MTMR2, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, SLC12A6, SPG11, SURF1, TDP1, TFG, TRIM2, TRPV4, TUBA8, YARS, VCP, AMPD1, ANO5, CAPN3, COL6A1, COL6A2, COL6A3, DAG1, DNAJB6, DYSF, FKRP, GAA, GMPPB, HNRNPDL, ISPD, ITGA7, LAMA2, LARGE, LIMS2, MYOT, PLEC, PNPLA2, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCG, SMCHD1, TNPO3, TRAPPC11, TRIM32, CAV3, DES, FKTN, SGCD, TCAP, TTN, POGLUT1, BVES, DMD, ABHD5, ACAT1, ACTA1, ACVR1, AGRN, ALG13, ALG14, ALG2, B3GALNT2, BIN1, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNTN1, COLQ, DMPK, DOK7, FHL1, FLNC, GBE1, GFPT1, GYG1, HNRPDL, ISCU, KBTBD13, KLHL40, KLHL41, KLHL9, LAMB2, LDHA, LMOD3, MEGF10, MSTN, MTM1, PTPLA (HACD1), PTRF, RAPSN, RBCK1, SLC25A20, SPEG, STAC3, STIM1, SYNE1, SYNE2, TIA1, TMEM43, TNNT1, TOR1AIP1, TPM2, TPM3, TRIM3, TRIM63, COL12A1, NEB, POMGNT2(GTDC2), RYR1, TMEM5, EMD, GNE, ACAD9, ACADL, ACADM, ACADVL, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GYS1, HADHA, HADHB, LPIN1, PFKM, PGAM2, PGM1, PHKA1, PYGM, SLC22A5, TYMP, ACTB, ALDH7A1, ANO3, ATM, ATP1A3, CIZ1, DBH, DDC, GCDH, GCH1, GNAL, PAH, PNKD, PNPO, PRKRA, PRRT2, PTS, QDPR, SGCE, SLC18A2, SLC2A1, SLC6A3, SPR, TAF1, TH, THAP1, TOR1A, TUBB4A和部分MATR3, HSPG2, SEPN1, PABPN1(細節請洽實驗室)
  6. 次世代定序兒童心臟疾病基因檢測
    Next Generation Sequencing - Pediatric Cardiovascular disease (Channopathy, Cardiomyoapthy, Pulmonary hypertension)
    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, 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(無IVS4+919G>A), GLB1, GMPPB, GNAS, GNB5, GNE, GPC3, GPC4, GPD1L, GSN, GTPBP3, GUSB, GYG1, GYS1, GYS2, H19, HADHA, HADHB, HAMP, HCCS, HCN4, 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, LMNA, LMNB2, LPAR6, LYZ, LZTR1, MAP2K1, MAP2K2, MEFV, MIB1, MLYCD, MRPL3, MRPL44, MTO1, MTSS1, MURC, MUT, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOT, MYOZ1, MYOZ2, MYPN, NDRG4, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NEBL, NEU1, NEXN, NF2, 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, PSEN1, PSEN2, PTPLA, PTPN11, PXDNL, RAB3GAP2, RAF1, RANGRF, RASA1, RASA2, RBCK1, RBM20, RFFL, RIT1, RMND1, RNF207, 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, TRIM32, TRIM37, TRIM63, TRPC6, TRPM4, TRPM7, TSFM, TTN, TTR, TWNK, TXNRD2, UQCC2, UQCRB, UQCRC2, UQCRQ, VCL, VCP, WFS1, XK, YARS2, ZFPM2, ZIC3和部分LITAF, NF1, NFIX, CACNA2D1, MYO6和TRDN(細節請洽實驗室)
  7. 次世代定序腎臟疾病相關基因變異檢測
    Next Generation Sequencing - Renal disease (Hypokalemia, RTA)
    ABCC8, ACE, ACTN4, ADAMTS13, ADCK4, ADCY10, AGTR1, AGXT, AHI1, ALAD, ALAS2, ALG8, ALMS1, ANKS6, ANLN, ANOS1, AP2S1, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC5, ATG5, ATP1A1, ATP2B3, ATP6V0A4, ATP6V1B1, ATP7B, ATXN10, AVPR2, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4, BMP7, BSND, C1S, C2, C3, C3AR1, C4BPA, C7, C8A, C9, CA2, CACNA1D, CACNA1H, CACNA1S, CAPN12, CASR, CC2D2A, CCDC41, CCL2, CD151, CD2AP, CD46, CDC5L, CDK20, CEP164, CEP290, CEP41, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFTR, CLCN2, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN16, CLDN19, CLU, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ7, COQ9, CPOX, CR1, CR2, CRB2, CTNS, CUBN, CUL3, CYP11B2, CYP1B1, CYP24A1, DCDC2, DGKE, DLC1, DLX5, DLX6, DMP1, DNASE1, DSTYK, DYNC2H1, DZIP1L, EGF, EHHADH, EMP2, ENPP1, EYA1, F12, FAM20A, FAM58A, FAN1, FAT1, FBXW7, FCGR2A, FCGR3B, FCN1, FECH, FGF23, FN1, FOXC1, FRAS1, FREM1, FREM2, FXYD2, GALNT3, GANAB, GAPVD1, GATA3, GATM, , GLA, GLB1, GLIS2, GLIS3, GNA11, GRHPR, GSN, HFE, HMBS, HNF1B, HNF4A, HOGA1, HPRT1, HSD11B2, HSD3B2, IFT122, IFT140, IFT172, IFT43, INF2, INPP5B, INPP5E, INVS, IQCB1, ITGA3, ITGA8, ITGB4, ITSN1, ITSN2, JAG1, KAL1 (ANOS1) , KANK2, KANK4, KCNA1, KCNJ1, KCNJ10, KCNJ12, KCNJ2, KCNJ5, KCNK5, KCNMB1, KIF7, KL, KLHL3, LAGE3, LAMA5, LAMB2, LCAT, LCORL, LMNA, LMX1B, LPL, LRP2, LRP4, LRP5, LYZ, LZTFL1, MAFB, MAGED2, MAGI2, MASP1, MASP2, MCP, MEFV, MET, MKKS, MKS1, MMACHC, MMP14, MYH9, MYO1E, MYOG, NEK1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C1, NR3C2, NTHFD1, NUP107, NUP205, NUP93, NXF5, OCRL, OFD1, OSGEP, PAX2, PCBD1, PDSS2, PHB, PHEX, PIEZO2, PKD2, PKHD1, PLCE1, PLG, PMM2, PODXL, PPOX, PTH1R, PTPRO, REN, RET, RMND1, ROBO2, RPGRIP1L, RRM2B, SALL1, SALL4, SARS2, SCARB1, SCARB2, SCN4A, SCNN1A, SCNN1B, SCNN1D, SCNN1G, SDCCAG8, SEC61A1, SGPL1, SIAH1, SIX1, SIX2, SIX5, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A7, SLC16A12, SLC22A12, SLC26A3, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC4A5, SLC5A1, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A1, SLC9A3, SLC9A3R1, SLIT2, SMARCAL1, SOX17, STRA6, STS, STX16, SYNPO, TCTN1, TCTN2, TCTN3, TENC1, THBD, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2, TNXB, TP53RK, TP63, TRIM32, TRNT1, TRPC6, TRPM6, TSC1, TSC2, TTC21B, TTC8, UMOD, UPK3A, UROD, UROS, USF2, VDR, VHL, VIPAS39, VPS33B, VWF, WDR19, WDR35, WDR60, WDR73, WNK1, WNK4, WNT4, WT1, WT1-AS, XDH, XPNPEP3, ZNF423和部分TPRKB, WHAMM, KAT2B, ALG1, NOS3, PKD1, NF1 (細節請洽實驗室)
  8. 次世代定序特發性身材矮小疾病相關基因變異檢測
    Next Generation Sequencing- Idiopathic short stature 
    ABCC8, ANKRD11, BLM , CCDC8, CDT1, CDC6, CDKN1C, COPG2, CUL7, DLK1, GNAS1, GRB10, H19, HMGA2, IGF2, IGFBP1, IGF2BP3, IGFBP3, NBS1 , KCNJ11, KCNQ1, KCNQ1OT1, MEG3, MIR380, NSD1, OBSL1, ORC1, ORC4, ORC6, PCNT, PEG1 , PIK3R1, PLAGL1, RTL1, SGCE, SRCAP, TRIM37, ZAC1, A2ML1, BRAF, BTK, CABIN1, CBL, GHRHR, GH1, GHR, HESX1, HRAS, IGF1, IGF1R, IGFALS, INSR, KAT6B, KRAS, LHX3, LHX4, LZTR1, MAP2K1, MAP2K2, NF2, NRAS, NSUN2, OTX2, POU1F1, PTPN11, PTX1, PITX2, PROP1, RAF1, RIT1, RRAS, SHOC2, SOS1, SOS2, SOX2, SOX3, SPRED1, STAT5B, ACAN, BMPR1B, BRF1, COL2A1, COL11A1, COL11A2, COL10A1, COL9A1, COL9A2, COL9A3, COMP, DVL1, FBN1, FBN2, FGFR3, FGD1, GDF5, HDAC8, IHH, LARP7, MATN3, NIPBL, NPR2, PTH1R, PTHLH, RAD21, ROR2, SHOX, SMC1A, SOX9, WNT5A, ADAMTSL3, ANAPC10, CABLES1, CDK10, CEP63, COLGALT2, DCAF16, EFEMP1, GSDMC, HHIP, LCORL, NCAPG, QSOX2, TSEN15, ZBTB38, ZNF638, ACD, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALT6, B4GALT7, BANF1, DKC1, EFEMP2, ELN, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, FBLN5, LMNA, LTBP4, NOLA2 , NOLA3 , PARN, PYCR1, RECQL4, RTEL1, TERC, TERT, TINF2, WRAP53, ZMPSTE24  , ALPL, ATR, ATRIP, CENPJ, CEP152, CHD7, CREBBP, CRIPT, DHCR7, DNA2, EP300, KMT2D , LIG4, MCM9, NSMCE2, PDE4D, PRKAR1A, ERCC8, NIN, POC1A, RPS6KA3, RBBP8, RNU4ATAC, SMARCAL1, TRAIP, XRCC4, COL1A1, KIF22, KMT2A, RUNX2, NAA10, DCHS1, GALNS, GLB1, SLC12A3, SPINK5, VPS13B, COL1A2, HOXD13和部分RNPC3, RASA2, SMC3, NF1, KDM6A(細節請洽實驗室)
  9. 次世代定序新生兒代謝異常相關基因變異檢測(限衛福部補助專用)
    Next Generation Sequencing- Neonatal metabolic abnormal
    ABCD1, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GAA, SLC25A20

     

 

IDT panel

  1. IDT panel-MMA_C5OH 
    BTD, HLCS, MCCC1, MCCC2, AUH, HMGCL, ACAT1, HSD17B10, MMAA, MMAB, MMACHC, MMADHC, MUT, PCCA, PCCB

     
  2. IDT panel-FAODLSD
    SLC22A5, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, IDUA, IDS, SGSH, NAGLU, GALNS, GLB1, ARSB, TPP1, GLA, DDC

     
  3. IDT panel-UCDGAA
    CPSI, OTC, ASS1, ASL, ARG1, NAGS, ORNT1 (SLC25A15), SLC25A13, GAA, PC

     
  4. IDT panel-DMD
    DMD

     

 

檢驗說明​

  1. 本檢驗命名乃依據Human Genome Variation Society之Nomenclature for the description of sequence variation系統建立(參考文獻4)。臨床意義判讀乃根據美國醫學遺傳暨基因組學會(American College of Medical Genetics and Genomics; ACMG)與美國分子病理學會(Association for Molecular Pathology)於2015年共同制定的標準(參考文獻1)。
  2. 報告乃呈現此檢體檢驗分析結果，僅供醫療專業人員參考。依衛福部規定，目前次世代定序分子遺傳診斷皆屬研究性質，本檢驗結果僅供醫療專業人員作為臨床參考之用，並需配合其他相關臨床資料進行最佳綜合判斷。
  3. NGS之定序僅能檢測出基因內單一核苷酸(single nucleotide)或是小片段的缺失或插入(small indel)，若突變本身為大片段缺失(deletion)、擴增(duplication)、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)以及未分析的區域(例如promoter, intron)則無法藉由此方式檢驗出。例如PMP22的duplication及Facioscapulohumeral muscular dystrophy的D4Z4 repeats變化，無法以此方式檢測出。