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基因分子生物類(lèi)投標(biāo)報(bào)價(jià)表序號(hào)疾病類(lèi)型項(xiàng)目清單項(xiàng)目?jī)?nèi)涵物價(jià)代碼每例總價(jià)（元）年預(yù)估量（人次）年預(yù)估價(jià)（元）權(quán)重系數(shù)（%）投標(biāo)下浮率（%）單項(xiàng)加權(quán)下浮率（%）1微生物基因檢測(cè)結(jié)核桿菌DNA定性結(jié)核桿菌DNA定性250403065-*000108=J3*I32微生物基因檢測(cè)柯薩奇A組16型RNA定性柯薩奇A組16型RNA定性250403089S-2*0000226=J4*I43微生物基因檢測(cè)腸道病毒通用型RNA定性腸道病毒通用型RNA定性250403089S-2*0000226=J5*I54微生物基因檢測(cè)水痘-帶狀皰疹病毒DNA定性水痘-帶狀皰疹病毒DNA定性250403065-*000108=J6*I65微生物基因檢測(cè)單純皰疹病毒Ⅰ型DNA定性單純皰疹病毒Ⅰ型DNA定性250403065-*000108=J7*I76微生物基因檢測(cè)單純皰疹病毒Ⅱ型DNA定量單純皰疹病毒Ⅱ型DNA定量250403065-2129*217=J8*I87微生物基因檢測(cè)弓形蟲(chóng)DNA定性弓形蟲(chóng)DNA定性250403065-*000108=J9*I98微生物基因檢測(cè)人細(xì)小病毒DNA定性人細(xì)小病毒DNA定性250403065-*000108=J10*I109微生物基因檢測(cè)風(fēng)疹病毒RNA定性風(fēng)疹病毒RNA定性250403089S-2*0000226=J11*I1110微生物基因檢測(cè)人腸道病毒基因測(cè)序分型包括人埃可病毒11型、人腸道病毒71型、人柯薩奇病毒270700003×24306*723=J12*I12A16型等常見(jiàn)亞型在內(nèi)的以下100余種腸道病毒亞型進(jìn)行分型：人腸道病毒A組：人柯薩奇病毒A2-8,10,12,14,16；人腸道病毒71,76,89-92,114,119。人腸道病毒B組：人柯薩奇病毒A9,B1-B6；人埃可病毒1-9,11-21,24-27,29-33；人腸道病毒69,73-75,77-88,93,97,98,100,101,106,107,110。人腸道病毒C組：人脊髓灰質(zhì)炎病毒1-3；人柯薩奇病毒A1,11,13,17,19-22,24；人腸道病毒95,96,99,102,104,105,109,113,116,117,118。人腸道病毒D組：人腸道病毒68,70,94,111。11微生物基因檢測(cè)HCV超敏丙型肝炎R(shí)NA測(cè)定-定量(內(nèi)標(biāo)法)250403013-2/*100002934=J20*I2012微生物基因檢測(cè)HBV基因分型(兩個(gè)型)根據(jù)HBV全基因核苷酸序列異源性≥8%或者S基因區(qū)核苷酸序列異源性≥4%，將不同病毒株分為不同的基因型。迄今為止，HBV可以分為8個(gè)基因型，即A、B、C、D、E、F、G和H型。而我國(guó)的HBV基因型主要有B型和C型、有少數(shù)的A型和D型。HBV分型檢測(cè)下限為1000IU結(jié)果解釋?zhuān)?、用于HBV基因型與抗病毒藥物療效：aHBV不同的基因型在針對(duì)慢性乙型肝炎患者的抗病毒治療療效上存在差異。bHBVA型對(duì)干擾素治療的應(yīng)答率高于D型，B型高于C型；A和D型又高于B和C型。cHBVB型在用拉米夫定治療停藥后反跳較低，而HBVC型則反跳較高。2、HBV基因型與預(yù)后判斷：HBVC型的致病力高于B型，且其預(yù)后較差。HBVC型較B型易發(fā)生BCP變異，導(dǎo)致病情加重；而B(niǎo)CP變異是肝癌發(fā)生的獨(dú)立危險(xiǎn)因素之一。3、HBV基因分型與科研：a可用于流行病學(xué)調(diào)查。bHBV基因型與核苷類(lèi)藥物的療效研究。目前基因型是否影響核苷類(lèi)似物的療效尚未確定。250403072-112950064500000722=J21*I2113微生物基因檢測(cè)HCV基因分型本項(xiàng)目檢測(cè)HCV1b、2a、3a、3b、6a共5個(gè)中國(guó)人常見(jiàn)的基因亞型；250403071112950056450000632=J22*I2214微生物基因檢測(cè)HBV核苷類(lèi)似物耐藥基因1報(bào)告22個(gè)位點(diǎn)，具體為rt169、rt173、rt180、rt181、rt184、rt186、rt191、rt194、rt200、rt202、rt204、rt207、rt213、rt214、rt215、rt229、rt233、rt236、rt237、rt238、rt250、rt256。2同時(shí)檢測(cè)9個(gè)HBV基因型：HBVA型、HBVB型、HBVC型、HBVC型/D重組型、HBVD型、HBVE型、HBVF型、HBVG型、HBVH型；3具體藥物與突變位點(diǎn)的關(guān)系：拉米夫定(LAM)（rtL80I，rtI169T，rtV173L，rtL180M，rtS202G，rtM204V，rtM204I，rtM250V）；替比夫定(LdT)（rtI169T，rtV173L，rtL180M，rtS202G，rtM204V，rtM204I，rtM250V）；恩替卡韋(ETV)（rtV173L，rtL180M，rtT184A（G/I/S/L），rtS202G，rtS202C，rtM204V，rtM204I，rtM250V，rtM250I）；恩曲他濱(FTC)（rtV173L，rtL180M，rtM204V，rtM204I）；阿德福韋(ADV)（rtV84M，rtS85A，rtA181V，rtA181T，rtV214A，rtQ215S，rtI233V，rtN236T）；替諾福韋（rtA194T，rtA194M）。250700031F×2400500200000002239=J23*I2315微生物基因檢測(cè)HCV3型NS5A耐藥突變HCV3型NS5A耐藥突變250700031F×2400500200000002239=J24*I2416微生物基因檢測(cè)乙肝病毒YMDD變異乙肝病毒YMDD變異25050104*00002239=J25*I2517微生物基因檢測(cè)上呼吸道感染100靶向檢測(cè)專(zhuān)為兒童病原感染設(shè)計(jì)，解決兒童感染季節(jié)流行和混合感染病原鑒別，同時(shí)提供兒童感染病原相關(guān)常見(jiàn)耐藥檢測(cè)，有效指導(dǎo)臨床快速精準(zhǔn)診療。250700031F×360010060000000672=J26*I2618微生物基因檢測(cè)多重病原體靶向檢測(cè)（400+panel）根據(jù)相關(guān)專(zhuān)家共識(shí)指推薦，單次檢測(cè)呼吸道病原和耐藥基因，覆蓋常見(jiàn)上下呼吸道感染病原90%以上；提供常見(jiàn)耐藥40種，助力快速診療。250700031F×480010080000000896=J27*I2719微生物基因檢測(cè)分枝桿菌(MTB&NTM)鑒定與耐藥檢測(cè)針對(duì)疑似結(jié)核和耐藥性結(jié)核患者，聚焦于結(jié)核病需要鑒別診斷的病原體以及?、?線抗結(jié)核藥物的耐藥位點(diǎn)，采?超多重PCR技術(shù)，靶向富集樣本中痕量靶核酸，結(jié)合?通量測(cè)序技術(shù)，?效實(shí)現(xiàn)病原微?物的精準(zhǔn)鑒定以及抗結(jié)核耐藥位點(diǎn)的精準(zhǔn)診斷，助力結(jié)核病精準(zhǔn)診療。250700031F×5100010010000000112=J28*I2820微生物基因檢測(cè)病原微生物宏基因組學(xué)DNA檢測(cè)對(duì)DNA類(lèi)已知或未知病原、混合感染，新發(fā)病原進(jìn)行全覆蓋鑒定，為臨床危重、疑難、特殊病例提供精準(zhǔn)診療250700031F×15×80%2400100240000002687=J29*I2921微生物基因檢測(cè)病原微生物宏基因組學(xué)RNA檢測(cè)對(duì)RNA類(lèi)已知或未知病原、混合感染，新發(fā)病原進(jìn)行全覆蓋鑒定，為臨床危重、疑難、特殊病例提供精準(zhǔn)診療250700031F×15×80%2400100240000002687=J30*I3022微生物基因檢測(cè)病原微生物宏基因組學(xué)DNA+RNA檢測(cè)相關(guān)專(zhuān)家共識(shí)指南推薦；有效覆蓋5萬(wàn)+種病原體，覆蓋廣、時(shí)間快、可溯源等；為臨床危重、疑難、特殊病例提供精準(zhǔn)診療，雙測(cè)版一次實(shí)現(xiàn)DNA+RNA病原體超敏檢出250700031F×15×80%2400100240000002687=J31*I3123遺傳性疾病神經(jīng)遺傳全外顯子組測(cè)序檢測(cè)（先證者）20000+全外顯子250700031F×17×80%2720100272000003045=J32*I3224遺傳性疾病阿爾茨海默?。ˋD）風(fēng)險(xiǎn)基因檢測(cè)APOE基因270700003×2430610043060000482=J33*I3325遺傳性疾病遺傳性/先天性內(nèi)分泌代謝系統(tǒng)疾病基因檢測(cè)AAAS,ACP5,AEBP1,AKR1C2,ALX1,ANKH,AP4E1,ARID1A,ARX,ATRX,BBS1,BBS7,BMP15,BRAF,CA2,CBS,CD55,CDKN1B,CEP152,CHD7,CKAP2L,COL10A1,COL2A1,COL9A3,CRTAP,CTSA,CYP11A1,CYP27B1,DHH,DLST,DNAJC21,DUOX2,DYNC2I1,EDNRA,EGLN2,EOGT,EVC,EZH2,FANCB,FANCI,FBLN5,FGF10,FGFR2,FLNA,FOXL2,FUCA1,GCK,GHSR,GLUD1,GNPTG,GPR101,H6PD,HES7,HNF1A,HPGD,HSPA9,IDUA,IFT172,IGF1R,IL17RD,INTU,KAT6B,KIAA0586,KISS1R,KYNU,LFNG,LIG4,LPIN2,LTBP3,MANBA,MASP1,MCM8,MEOX1,MKS1,MSX2,MYO18B,NEU1,NKAP,NNT,NR0B1,NSD1,OCRL,OSTM1,PAPPA2,PCSK1,PDX1,PHGDH,PITX1,PLS3,POLR1D,POU1F1,PRKAR1A,PSMC3IP,PTHLH,RAD21,RBM8A,RIPK4,ROR2,RUNX2,SCNN1B,SDHD,SETBP1,SGSH,SKI,SLC25A11,SLC2A2,SLC9A3R1,SMAD6,SMC3,SOST,SP7,SRY,TAB2,TBCE,TBX4,TCOF1,TGFB2,THRB,TMEM67,TP53,TREM2,TRPV4,TSPYL1,TWIST2,VPS13B,WFS1,WNT4,XYLT1,ZIC1,ABCC6,ACTA2,AGA,AKR1C4,ALX3,ANKRD11,APC,ARID1B,ASCC1,B3GALT6,BBS10,BBS9,BMP2,BRCA1,CACNA1D,CBX2,CDC45,CDKN1C,CEP290,CHST14,CLCN2,COL11A1,COL3A1,COLEC11,CSF1R,CTSK,CYP11B1,CYP2R1,DHODH,DLX3,DNMT3A,DUOXA2,DYNC2I2,EFEMP2,EIF2AK3,EP300,EVC2,FAAP100,FANCC,FANCL,FBN1,FGF16,FGFR3,FLNB,FOXP3,FZD2,GDF5,GJA1,GMNN,GNRH1,GPX4,HAAO,HESX1,HNF1B,HRAS,HSPG2,IER3IP1,IFT43,IGF2,IL1RN,IPO8,KATNIP,KIAA0753,KLF11,LARP7,LHB,LMBR1,LRBA,LZTR1,MAP2K1,MATN3,MDH2,MESP2,MMP13,MTAP,MYRF,NEUROD1,NKX2-1,NOG,NR2F2,NSDHL,OFD1,OTX2,PAPSS2,PCYT1A,PEX1,PIEZO1,PITX2,PNPLA6,POLR3A,PPARG,PRKG1,PTCH1,PTPN11,RAD51,RBPJ,RIPPLY2,RPGRIP1L,SALL1,SCNN1G,SEC24D,SETD2,SH3BP2,SLC10A7,SLC26A2,SLC34A1,SLCO2A1,SMARCA4,SMOC1,SOX10,SPARC,STAG3,TAC3,TBL1X,TBX5,TCTN3,TGFB3,TMCO1,TNFRSF11A,TP63,TRHR,TRPV6,TTC21B,TYROBP,VPS33A,WNK1,WNT5A,XYLT2,ZMPSTE24,ABCC8,ACVR1,AGPS,AKT2,ALX4,ANO5,APPL1,ARL6,ASXL1,B3GAT3,BBS12,BCOR,BMP4,BRCA2,CACNA1H,CC2D2A,CDC6,CDON,CEP41,CHST3,CLCN5,COL11A2,COL5A1,COMP,CSGALNACT1,CUL3,CYP11B2,DDR2,DHX37,DLX5,DNMT3B,DVL1,DYNC2LI1,EFL1,EIF2S3,EPAS1,EXOC6B,FAH,FANCD2,FANCM,FBN2,FGF23,FH,FN1,FRAS1,GALNS,GDF6,GLB1,GNAI3,GNRHR,GRIP1,HADH,HFE,HNF4A,HSD11B1,IARS2,IFIH1,IFT52,IGFALS,IL2RA,IRF6,KCNJ11,KIF1B,KLHL3,LBR,LHCGR,LMNA,LRP4,MAFB,MAP2K2,MAX,MECOM,MFAP5,MMP2,MYCN,NAGLU,NEUROG3,NKX2-2,NOTCH1,NR3C1,NSMCE2,OPHN1,P3H1,PAX3,PDE11A,PEX5,PIGV,PLCB4,POC1A,POLR3B,PPIB,PROK2,PTDSS1,PTRH2,RAD51C,RECQL4,RIT1,RPL10,SALL4,SDHA,SECISBP2,SF3B4,SH3PXD2B,SLC16A1,SLC26A4,SLC34A3,SLX4,SMARCAL1,SNRPB,SOX11,SPECC1L,STAR,TACR3,TBX1,TBX6,TENT5A,TGFBR1,TMEM127,TNFRSF11B,TPO,TRIM32,TSC1,TTC8,UBE2T,WASHC5,WNK4,WNT7A,ZBTB18,ZSWIM6,ABCD1,ADAMTS10,AIFM1,ALG9,AMER1,ANOS1,AR,ARMC5,ATP6V0A2,B4GALT7,BBS2,BGN,BMPER,BRIP1,CANT1,CCDC8,CDC73,CDT1,CEP57,CHSY1,CLCN7,COL1A1,COL5A2,CREB3L1,CSPP1,CUL4B,CYP17A1,DDRGK1,DICER1,DMP1,DOCK6,DVL3,DYNLT2B,EFNB1,EIF4A3,ERCC4,EXT1,FAM111A,FANCE,FAR1,FERMT3,FGF8,FIG4,FOXA2,FREM2,GALNT3,GH1,GLI2,GNAS,GNS,GSC,HCCS,HGSNAT,HOXA11,HSD11B2,IDH1,IFITM5,IFT80,IGSF1,INPPL1,IRS4,KCNJ2,KIF22,KMT2A,LEMD3,LHX3,LMX1B,LRP5,MAGEL2,MAP3K1,MBTPS2,MED12,MGP,MMP9,MYH11,NANS,NF1,NKX2-5,NOTCH2,NR3C2,NSMF,ORC1,P4HB,PAX8,PDE3A,PEX7,PIK3C2A,PLEKHM1,POLE,POMC,PPP1CB,PROKR2,PTEN,PYCR1,RAF1,RET,RMRP,RSPO1,SAMD9,SDHAF2,SEMA3A,SFRP4,SHH,SLC16A2,SLC26A7,SLC35D1,SMAD2,SMARCB1,SNX10,SOX2,SPR,STAT5B,TANGO2,TBX15,TBXAS1,TG,TGFBR2,TMEM165,TNFSF11,TRAF3IP1,TRIP11,TSC2,TTI2,UBR1,WDR11,WNT1,WT1,ZBTB20,ABL1,ADAMTS17,AIP,ALMS1,AMH,ANTXR2,ARCN1,ARSB,ATP6V1E1,BAAT,BBS4,BHLHA9,BMPR1B,BTK,CASR,CCN6,CDH1,CEL,CFAP410,CILK1,COG1,COL1A2,COL9A1,CREBBP,CTNND1,CUL7,CYP19A1,DHCR24,DLL3,DMRT1,DONSON,DYM,EBP,EFTUD2,ELN,ERF,EXT2,FAM20C,FANCF,FAT4,FEZF1,FGF9,FKBP10,FOXE1,FSHB,GATA4,GHR,GLI3,GNPAT,GORAB,GUSB,HDAC4,HHAT,HOXA13,HSD17B3,IDH2,IFT122,IFT81,IHH,INS,IYD,KCNJ5,KIF7,KMT2D,LEP,LHX4,LONP1,LRRK1,MAMLD1,MAP3K7,MC2R,MEGF8,MKKS,MNX1,MYH3,NBAS,NFIX,NKX3-2,NPR2,NR5A1,NXN,ORC4,PALB2,PCBD1,PDE4D,PHEX,PIK3R1,PLOD1,POLR1A,POP1,PPP1R12A,PROP1,PTF1A,RAB23,RAX,RFX6,RNPC3,RSPO2,SCARF2,SDHB,SERPINF1,SGMS2,SHOC2,SLC17A5,SLC29A3,SLC39A13,SMAD3,SMARCE1,SOS1,SOX3,SRCAP,STS,TAPT1,TBX19,TCF12,TGDS,THPO,TMEM216,TOE1,TRAIP,TRIP4,TSHB,TUBB1,VDR,WDR19,WNT10B,XRCC2,ZFP57,ACAN,ADAMTSL2,AIRE,ALPL,AMHR2,AP4B1,ARHGAP31,ARSL,ATR,BAP1,BBS5,BMP1,BPNT2,C2CD3,CBL,CCNQ,CDH3,CEP120,CHD4,CISD2,COG4,COL27A1,COL9A2,CRIPT,CTNS,CYB5A,CYP26B1,DHCR7,DLL4,DNA2,DSE,DYNC2H1,EDN1,EGLN1,ENPP1,ESCO2,EXTL3,FANCA,FANCG,FBLN1,FGD1,FGFR1,FKBP14,FOXE3,FSHR,GATA6,GHRHR,GLIS3,GNPTAB,GPC6,GZF1,HDAC8,HMGA2,HOXD13,HSD3B2,IDS,IFT140,IGF1,IL11RA,INSR,JAG1,KDM6B,KISS1,KRAS,LEPR,LIFR,LOX,LTBP2,MAN2B1,MARS2,MCM4,MEN1,MKRN3,MRAP,MYLK,NEK1,NIPBL,NLRP3,NPR3,NRAS,OBSL1,ORC6,PAM16,PCNT,PDE8B,PHF6,PISD,PLOD2,POLR1C,POR,PREPL,PSAT1,PTH1R,RAB33B,RBBP8,RIGI,ROBO1,RSPRY1,SCNN1A,SDHC,SERPINH1,SGPL1,SIX3,SLC19A2,SLC2A10,SLC5A5,SMAD4,SMC1A,SOS2,SOX9,SRD5A2,SUMF1,TBC1D32,TBX3,TCIRG1,TGFB1,THRA,TMEM38B,TONSL,TRAPPC2,TRPS1,TSHR,TWIST1,VHL,WDR35,WNT3,XRCC4,ZFPM2250700031F×17×80%2720100272000003045=J34*I3426遺傳性疾病遺傳性/先天性心血管系統(tǒng)疾病基因檢測(cè)AARS2,ABCA1,ABCC8,ABCC9,ABCG5,ABCG8,ABL1,ACAD9,ACADVL,ACTA2,ACTB,ACTC1,ACTG1,ACTN2,ACVRL1,ADAMTS10,ADAMTS17,ADAMTS19,ADAMTS2,ADAMTSL4,AEBP1,AFF4,AGK,AGL,ALDH18A1,ALMS1,ALPK3,ANGPTL3,ANKRD1,ANKRD11,APOA1,APOA5,APOB,APOC2,APOE,ARHGAP31,ARSB,ATAD3A,ATP13A3,ATP6V0A2,ATP6V1A,ATP6V1E1,ATP7A,B3GALT6,B3GAT3,B4GALT7,BAG3,BCOR,BGN,BMPR2,BOLA3,BRAF,C1R,C1S,CACNA1C,CACNA1D,CALM1,CALM2,CALM3,CAPNS1,CASQ2,CAV1,CAV3,CBL,CBS,CDH2,CDK13,CETP,CHD4,CHD7,CHST14,CITED2,COL12A1,COL1A1,COL1A2,COL3A1,COL5A1,COL5A2,COQ4,COX15,CPT2,CREB3L3,CREBBP,CSRP3,CTNND1,CYP27A1,DES,DHCR7,DLL4,DMD,DNAH11,DNAJC19,DOLK,DSC2,DSE,DSG2,DSP,DTNA,EFEMP2,EHMT1,EIF2AK4,ELAC2,ELN,EMD,ENG,EOGT,EPG5,EPHB4,EVC,EVC2,EYA4,FBLN5,FBN1,FBN2,FHL1,FHOD3,FKBP14,FKRP,FKTN,FLNA,FLNC,FLT4,FOXC1,FOXE3,FOXF1,FRAS1,G6PC3,GAA,GATA4,GATA6,GDF1,GDF2,GGCX,GJA5,GLA,GNB5,GPC3,GPD1,GPIHBP1,GTPBP3,HADHA,HAND1,HCN4,HOXA1,HRAS,IDS,IDUA,IPO8,JAG1,JPH2,JUP,KAT6A,KAT6B,KCNA5,KCNE1,KCNE2,KCNH2,KCNJ2,KCNK3,KCNQ1,KDM6A,KDR,KMT2D,KRAS,KYNU,LAMP2,LCAT,LDB3,LDLR,LDLRAP1,LIPA,LMF1,LMNA,LMOD2,LOX,LPL,LZTR1,MAP2K1,MAP2K2,MED12,MED13L,MEGF8,MEIS2,MFAP5,MLYCD,MRAS,MRPL3,MRPL44,MRPS22,MTFMT,MTO1,MYBPC3,MYH11,MYH6,MYH7,MYL2,MYL3,MYLK,MYLK3,MYPN,NDUFAF1,NDUFB11,NDUFS4,NDUFS8,NEXN,NF1,NFU1,NIPBL,NKX2-5,NKX2-6,NODAL,NOTCH1,NOTCH2,NR2F2,NRAS,NSD1,PCCA,PCCB,PCSK9,PKP2,PLD1,PLN,PLOD1,PPA2,PPCS,PPP1CB,PRDM16,PRDM5,PRKAG2,PRKG1,PTPN11,PYCR1,RAF1,RASA1,RBM10,RBM20,RIT1,RRAS2,RYR2,SALL1,SALL4,SARS2,SCN5A,SCO2,SGCD,SHOC2,SKI,SLC22A5,SLC25A20,SLC25A4,SLC2A10,SLC39A13,SLC4A3,SMAD2,SMAD3,SMAD4,SMAD6,SMAD9,SMC3,SOS1,SOS2,SOX17,SPEG,SPRED1,SPRED2,STRA6,TAB2,TAFAZZIN,TBX1,TBX20,TBX4,TBX5,TCAP,TECRL,TET2,TFAP2B,TGDS,TGFB2,TGFB3,TGFBR1,TGFBR2,THSD4,TMEM43,TMEM70,TNNC1,TNNI3,TNNI3K,TNNT2,TPM1,TRAF7,TRDN,TRIM63,TRPM4,TSC1,TSC2,TSFM,TTN,TTR,VCL,ZEB2,ZIC3,ZNF469250700031F×17×80%2720100272000003045=J35*I3527遺傳性疾病遺傳性/先天性肌肉骨骼運(yùn)動(dòng)系統(tǒng)疾病基因檢測(cè)ABCC6,ACAN,ACP5,ACVR1,ADAMTS10,ADAMTS17,ADAMTSL2,AGA,AGPS,AIFM1,ALG9,ALPL,ALX1,ALX3,ALX4,AMER1,ANKH,ANKRD11,ANO5,ANTXR2,ARCN1,ARHGAP31,ARID1A,ARID1B,ARSB,ARSL,ASCC1,ASXL1,ATP6V0A2,ATR,B3GALT6,B3GAT3,B4GALT7,BAAT,BGN,BHLHA9,BMP1,BMP2,BMPER,BMPR1B,BPNT2,BRCA1,BRCA2,BRIP1,C2CD3,CA2,CANT1,CASR,CC2D2A,CCDC8,CCN6,CCNQ,CDC45,CDC6,CDH3,CDKN1C,CDT1,CEP120,CEP152,CEP290,CFAP410,CHST14,CHST3,CHSY1,CILK1,CKAP2L,CLCN5,CLCN7,COG1,COG4,COL10A1,COL11A1,COL11A2,COL1A1,COL1A2,COL27A1,COL2A1,COL9A1,COL9A2,COL9A3,COLEC11,COMP,CREB3L1,CREBBP,CRIPT,CRTAP,CSF1R,CSGALNACT1,CSPP1,CTNS,CTSA,CTSK,CUL7,CYP26B1,CYP27B1,CYP2R1,DDR2,DDRGK1,DHCR24,DHCR7,DHODH,DLL3,DLL4,DLX3,DLX5,DMP1,DNA2,DNAJC21,DNMT3A,DOCK6,DONSON,DSE,DVL1,DVL3,DYM,DYNC2H1,DYNC2I1,DYNC2I2,DYNC2LI1,DYNLT2B,EBP,EDN1,EDNRA,EFL1,EFNB1,EFTUD2,EIF2AK3,EIF4A3,ENPP1,EOGT,EP300,ERCC4,ERF,ESCO2,EVC,EVC2,EXOC6B,EXT1,EXT2,EXTL3,EZH2,FAAP100,FAH,FAM111A,FAM20C,FANCA,FANCB,FANCC,FANCD2,FANCE,FANCF,FANCG,FANCI,FANCL,FANCM,FAR1,FBLN1,FBN1,FBN2,FERMT3,FGF10,FGF16,FGF23,FGF9,FGFR1,FGFR2,FGFR3,FIG4,FKBP10,FKBP14,FLNA,FLNB,FN1,FUCA1,FZD2,GALNS,GALNT3,GDF5,GDF6,GHR,GHRHR,GJA1,GLB1,GLI3,GMNN,GNAI3,GNAS,GNPAT,GNPTAB,GNPTG,GNS,GORAB,GPC6,GPX4,GSC,GUSB,GZF1,HAAO,HDAC4,HDAC8,HES7,HGSNAT,HOXA11,HOXA13,HOXD13,HPGD,HRAS,HSPA9,HSPG2,IARS2,IDH1,IDH2,IDS,IDUA,IFIH1,IFITM5,IFT122,IFT140,IFT172,IFT43,IFT52,IFT80,IFT81,IGF1,IHH,IL11RA,IL1RN,INPPL1,INTU,KAT6B,KCNJ2,KDM6B,KIAA0586,KIAA0753,KIF22,KIF7,KMT2A,KMT2D,KRAS,KYNU,LARP7,LBR,LEMD3,LFNG,LIFR,LMBR1,LMNA,LMX1B,LONP1,LPIN2,LRP4,LRP5,LRRK1,LTBP2,LTBP3,MAFB,MAN2B1,MANBA,MAP2K1,MAP3K7,MASP1,MATN3,MBTPS2,MECOM,MEGF8,MEOX1,MESP2,MGP,MKS1,MMP13,MMP2,MMP9,MNX1,MSX2,MTAP,MYCN,MYH3,MYO18B,NAGLU,NANS,NBAS,NEK1,NEU1,NF1,NFIX,NIPBL,NKX3-2,NLRP3,NOG,NOTCH1,NOTCH2,NPR2,NPR3,NRAS,NSD1,NSDHL,NSMCE2,NXN,OBSL1,OCRL,OFD1,ORC1,ORC4,ORC6,OSTM1,P3H1,P4HB,PALB2,PAM16,PAPSS2,PAX3,PCNT,PCYT1A,PDE3A,PDE4D,PEX5,PEX7,PHEX,PHF6,PHGDH,PIGV,PIK3C2A,PIK3R1,PISD,PITX1,PLCB4,PLEKHM1,PLOD1,PLOD2,PLS3,POC1A,POLE,POLR1A,POLR1C,POLR1D,POLR3A,POP1,POR,PPIB,PRKAR1A,PSAT1,PTDSS1,PTH1R,PTHLH,PTPN11,PYCR1,RAB23,RAB33B,RAD21,RAD51,RAD51C,RBBP8,RBM8A,RBPJ,RECQL4,RIGI,RIPPLY2,RMRP,ROR2,RPGRIP1L,RSPO2,RSPRY1,RUNX2,SALL1,SALL4,SCARF2,SEC24D,SERPINF1,SERPINH1,SETD2,SF3B4,SFRP4,SGMS2,SGSH,SH3BP2,SH3PXD2B,SHH,SKI,SLC10A7,SLC17A5,SLC26A2,SLC29A3,SLC2A2,SLC34A1,SLC34A3,SLC35D1,SLC39A13,SLC9A3R1,SLCO2A1,SLX4,SMAD2,SMAD3,SMAD4,SMARCA4,SMARCAL1,SMARCB1,SMARCE1,SMC1A,SMC3,SMOC1,SNRPB,SNX10,SOST,SOX11,SOX9,SP7,SPARC,SUMF1,TAB2,TAPT1,TBCE,TBX15,TBX3,TBX4,TBX5,TBX6,TBXAS1,TCF12,TCIRG1,TCOF1,TCTN3,TENT5A,TGDS,TGFB1,TGFB2,TGFB3,TGFBR1,TGFBR2,THPO,TMCO1,TMEM165,TMEM216,TMEM38B,TMEM67,TNFRSF11A,TNFRSF11B,TNFSF11,TONSL,TP63,TRAF3IP1,TRAIP,TRAPPC2,TREM2,TRIP11,TRIP4,TRPS1,TRPV4,TRPV6,TTC21B,TWIST1,TYROBP,UBE2T,VDR,VPS33A,WDR19,WDR35,WNT1,WNT10B,WNT3,WNT5A,WNT7A,XRCC2,XRCC4,XYLT1,XYLT2,ZIC1,ZMPSTE24,ZSWIM6250700031F×17×80%2720100272000003045=J36*I3628遺傳性疾病遺傳性/先天性消化系統(tǒng)疾病基因檢測(cè)ABCA1,ABCB11,ABCB4,ABCC2,ACADM,ACADVL,ADK,AGA,AGL,AGPAT2,AKR1D1,ALAD,ALAS2,ALDOB,ALG1,ALG3,ALG8,AMACR,ANGPTL3,AP3B1,APOB,APOC2,ARG1,ARSB,ASAH1,ASL,ASS1,ATP6AP1,ATP6AP2,ATP7B,ATP8B1,B4GALT1,BAAT,BCS1L,BSCL2,CAVIN1,CBS,CC2D2A,CCDC115,CD27,CD40LG,CFTR,CLDN1,COG2,COG4,COG6,COG7,CP,CPS1,CPT1A,CPT2,CTNS,CYBA,CYBB,CYBC1,CYP27A1,CYP7A1,CYP7B1,DCDC2,DGUOK,DHCR7,DHDDS,DLD,DNAJB11,DPM1,DPM2,DZIP1L,EFL1,EIF2AK3,EPM2A,ETFA,ETFB,ETFDH,FAH,FARS2,FARSB,FBXL4,FECH,FGA,FGB,FGG,FTH1,FUCA1,G6PC1,GAA,GALE,GALK1,GALM,GALNS,GALT,GANAB,GATA1,GBE1,GFM1,GLB1,GNPTAB,GNPTG,GNS,GUSB,GYS2,HADH,HADHA,HADHB,HAMP,HFE,HGSNAT,HJV,HMGCL,HNF1B,HSD17B4,HSD3B7,IARS1,IDS,IDUA,INVS,ITK,JAG1,LARS1,LDLR,LIPA,LMNA,LPL,LRP5,LYST,MAGT1,MAN2B1,MARS1,MCOLN1,MKS1,MPI,MPV17,MTTP,MVK,MYO5B,NAGLU,NAGS,NBAS,NCF2,NCF4,NEU1,NGLY1,NHLRC1,NOTCH2,NPC1,NPC2,NPHP1,NPHP3,NPHP4,NR1H4,OTC,PCSK9,PEX1,PEX10,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PGM1,PHKA2,PHKB,PHKG2,PKD1,PKD2,PKHD1,PKLR,PMM2,POLG,PPOX,PRF1,PRKCSH,PYGL,RAB27A,RFT1,RINT1,RPGRIP1L,SCO1,SCYL1,SEC63,SERAC1,SERPINA1,SGSH,SH2D1A,SLC22A5,SLC25A13,SLC25A15,SLC25A20,SLC2A2,SLC37A4,SLC40A1,SLC7A7,SLCO1B1,SLCO1B3,SMPD1,STT3B,STX11,STXBP2,SUCLG1,TALDO1,TFR2,TJP2,TMEM165,TMEM199,TMEM216,TMEM67,TRMU,TSFM,TTC37,TWNK,TYMP,UGT1A1,UNC13D,UROD,UROS,VIPAS39,VPS33B,XIAP,SLC10A1250700031F×17×80%2720100272000003045=J37*I3729遺傳性疾病遺傳性/先天性血液免疫系統(tǒng)疾病基因檢測(cè)ABCB7,ABCD4,ABCG5,ABCG8,ACBD5,ACD,ACP5,ACTB,ACTN1,ADA,ADA2,AGA,AICDA,AIRE,AK2,ALAS2,AMN,ANKRD26,AP3B1,AP3D1,APC,ARHGEF1,ATG2B,ATM,ATP6AP1,ATR,ATRX,B2M,BCL10,BCL11B,BLM,BLNK,BLOC1S6,BRAF,BRCA1,BRCA2,BRIP1,BTK,BTNL2,C1QA,C1QB,C1QC,C1S,C2,C3,C4A,C4B,C5,C6,C7,C8A,C8B,C9,CARD11,CASP10,CASP8,CBL,CBLIF,CD19,CD247,CD27,CD320,CD3D,CD3E,CD3G,CD40,CD40LG,CD70,CD79A,CD79B,CD81,CD8A,CDAN1,CDCA7,CDIN1,CFD,CFP,CHD7,CHEK2,CIITA,CLCN7,CLEC7A,CLN3,CLPB,COG1,COG6,COQ2,CORO1A,COX4I2,CR2,CREBBP,CSF3R,CSNK2A1,CTC1,CTLA4,CTPS1,CUBN,CXCR4,CYBA,CYBB,CYCS,DCLRE1C,DDX11,DDX41,DHFR,DIAPH1,DKC1,DNAJC21,DNASE1,DNASE1L3,DNMT3B,DOCK2,DOCK8,EFL1,ELANE,EPCAM,EPG5,EPO,ERCC4,ERCC6L2,ETV6,EXTL3,FADD,FANCA,FANCB,FANCC,FANCD2,FANCE,FANCF,FANCG,FANCI,FANCL,FANCM,FARSB,FAS,FASLG,FBXL4,FCGR2A,FCGR2B,FCGR3A,FCN3,FERMT3,FIG4,FLI1,FLNA,FOXN1,FOXP3,FTCD,FUT8,G6PC3,G6PD,GATA1,GATA2,GFI1,GFI1B,GINS1,GLB1,GLRX5,GP1BA,GP1BB,GP6,GP9,GSKIP,GSS,HAX1,HELLS,HLCS,HOXA11,HPRT1,HSPA9,HTRA2,HYOU1,ICOS,IFNG,IFNGR1,IFNGR2,IGLL1,IKBKB,IL10RA,IL10RB,IL12B,IL12RB1,IL17F,IL17RA,IL21,IL21R,IL2RA,IL2RB,IL2RG,IL7R,IRF2BP2,IRF8,ISG15,ITCH,ITGA2B,ITGB2,ITGB3,ITK,IVD,JAGN1,JAK3,KCNN4,KIF23,KLF1,KRAS,LAMTOR2,LARS2,LCK,LIG4,LMBRD1,LRBA,LYST,LZTR1,MAD2L2,MAGT1,MALT1,MAN2B1,MCM4,MECOM,MMAA,MMAB,MMACHC,MMADHC,MMUT,MPIG6B,MPL,MPO,MRAS,MRPS7,MRTFA,MS4A1,MSN,MTHFD1,MTOR,MTR,MTRR,MVK,MYH9,MYSM1,NAF1,NBEAL2,NBN,NCF2,NCF4,NDUFB11,NEU1,NF1,NFE2L2,NFKB1,NFKB2,NFKBIA,NHEJ1,NHP2,NLRC4,NLRP12,NLRP3,NOP10,NPC1,NPC2,NPM1,NRAS,OCLN,ORAI1,OSTM1,PACS2,PALB2,PARN,PCCA,PCCB,PEPD,PGM3,PIK3CD,PIK3R1,PLCG2,PLEKHM1,PNP,POLE,POT1,PPP1CB,PRDX1,PRF1,PRKACG,PRKCD,PRKDC,PSMB4,PSMB8,PSMB9,PSTPIP1,PTEN,PTPN11,PTPN22,PTPRC,PTPRJ,PUS1,RAB27A,RAC2,RAD51,RAD51C,RAF1,RAG1,RAG2,RASGRP1,RBCK1,RBM8A,RECQL4,RFWD3,RFX5,RFXANK,RFXAP,RHAG,RIPK1,RIT1,RNASEH2A,RNF168,RPL10,RPL11,RPL14,RPL15,RPL18,RPL19,RPL23,RPL26,RPL27,RPL31,RPL35,RPL35A,RPL36,RPL5,RPS10,RPS15,RPS15A,RPS17,RPS19,RPS24,RPS26,RPS27,RPS27A,RPS28,RPS29,RPS7,RRAS,RTEL1,RUNX1,SALL4,SAMD9,SAMD9L,SAMHD1,SARS2,SBF2,SEC23B,SEC61A1,SEMA3E,SH2D1A,SH3KBP1,SHOC2,SIK3,SKIV2L,SLC19A2,SLC25A38,SLC29A3,SLC35A1,SLC37A4,SLC46A1,SLC7A7,SLFN14,SLX4,SMARCAL1,SMARCD2,SMPD1,SNX10,SOS1,SOS2,SP110,SPATA5,SRC,SRP54,SRP72,STAT1,STAT2,STAT3,STAT4,STAT5B,STIM1,STK4,STN1,STT3B,STX11,STXBP2,SUZ12,TALDO1,TAZ,TBX2,TBXAS1,TCF3,TCIRG1,TCN2,TDP2,TERC,TERF1,TERF2,TERF2IP,TERT,TET2,TFR2,TFRC,TGFB1,THPO,TINF2,TMEM165,TNFAIP3,TNFRSF11A,TNFRSF13B,TNFRSF13C,TNFRSF4,TNFSF11,TONSL,TP53,TPM4,TPP2,TREX1,TRNT1,TRPM7,TSR2,TUBB1,TYK2,U2AF1,UBE2T,UMPS,UNC13D,UNG,USB1,USP18,VPS13B,VPS33A,VPS45,WAS,WDR1,WDR19,WIPF1,WRAP53,XIAP,XK,XRCC2,YARS2,ZAP70,ZBTB24,ZCCHC8,ZNF341,ZRSR2250700031F×17×80%2720100272000003045=J38*I3830遺傳性疾病遺傳性/先天性腎泌尿系統(tǒng)疾病基因檢測(cè)ABCC6,AGT,ALG8,ANKS6,APOC2,ARL13B,ATP6V1B1,B9D2,BBS2,BICC1,C1QC,CC2D2A,CDC73,CEP290,CFH,CLCN2,CLDN19,COL4A5,CRB2,CYP11B1,DCDC2,DLC1,DYNC2I1,EMP2,EXOC3L2,FAN1,FGF23,FOXC1,GALNT3,GLI3,GREB1L,HNF1B,HS2ST1,IFT27,INF2,ITGB4,KATNIP,KDM6A,KMT2D,LCAT,LRP5,MAGT1,MKS1,MOCS2,MYO1E,NIPBL,NPHS1,NUP133,OFD1,PDSS2,PKHD1,PRKCSH,REN,RPGRIP1L,SCLT1,SDHAF2,SGPL1,SLC17A5,SLC2A9,SLC4A1,SLC7A7,SOX11,TBC1D1,TFAP2A,TMEM218,TNXB,TRIM32,TTC21B,VDR,WDR19,WNK4,YRDC,ACE,AGTR1,ALG9,ANLN,APOE,ARL3,ATP7B,BAP1,BBS4,BMP4,C2CD3,CCNQ,CDKN1C,CEP41,CFI,CLCN5,CLPB,COL4A6,CSPP1,CYP11B2,DDX59,DLG5,DYNC2I2,ENPP1,EYA1,FANCB,FGFR1,FOXI1,GANAB,GLIS2,GRHPR,HNF4A,HSD11B2,IFT43,INPP5E,ITSN1,KCNJ1,KIAA0586,KRAS,LIFR,LYZ,MAPKBP1,MMACHC,MTR,MYOCD,NLRP3,NPHS2,NUP160,OSGEP,PEX6,PLCE1,PRPS1,RET,RRM2B,SCN4A,SDHB,SIX1,SLC1A1,SLC34A1,SLC4A4,SLC7A9,SOX17,TBC1D8B,THBD,TMEM231,TOGARAM1,TRIM8,TTC8,VHL,WDR35,WNT4,ZIC3,ACTG2,AGXT,ALMS1,ANOS1,APRT,ARL6,AVP,BBIP1,BBS5,BNC2,C3,CD151,CENPF,CEP55,CHD7,CLCNKA,CNNM2,COQ2,CTNS,CYP24A1,DGKE,DMP1,DYNC2LI1,ESCO2,FAH,FAT1,FGFR2,FRAS1,GATA3,GLIS3,GRIP1,HOGA1,HYLS1,IFT52,INVS,ITSN2,KCNJ10,KIAA0753,KYNU,LMX1B,LZTFL1,MEFV,MMADHC,MTRR,NADSYN1,NOTCH2,NR3C2,NUP205,PAX2,PHEX,PLG,PTEN,RMND1,SALL1,SCNN1A,SDHC,SIX2,SLC22A12,SLC34A3,SLC5A1,SLC9A3R1,SOX18,TBX18,TMEM107,TMEM237,TP53RK,TRPC6,TTR,VIPAS39,WDR4,WNT5A,ZMPSTE24,ACTN4,AHI1,ALPL,AP2S1,AQP2,ARMC9,AVPR2,BBS1,BBS7,BSND,CA2,CD2AP,CEP104,CEP83,CHRM3,CLCNKB,COL4A1,COQ6,CTU2,CYP27B1,DHCR7,DNAJB11,DZIP1L,ETFA,FAM111A,FAT4,FH,FREM1,GATM,GNA11,GSN,HOXA13,IFT122,IFT74,IQCB1,JAG1,KCNJ16,KIF14,LAGE3,LRIG2,MAFB,MET,MMUT,MUC1,NEK1,NPHP1,NRIP1,NUP85,PBX1,PIBF1,PLVAP,PTPN11,ROBO1,SALL4,SCNN1B,SDHD,SIX5,SLC26A1,SLC36A2,SLC5A2,SMARCAL1,STRA6,TCTN1,TMEM127,TMEM260,TPRKB,TRPM6,TXNDC15,VPS33B,WDR72,WT1,ZMYM2,ADAMTS13,ALG1,AMER1,APOA1,ARHGAP24,ATP1A1,B2M,BBS10,BBS9,C1QA,CACNA1D,CD46,CEP120,CFAP418,CHRNA3,CLDN10,COL4A3,COQ8B,CUBN,CYP2R1,DICER1,DSTYK,EBP,EVC,FAM149B1,FGA,FLCN,FREM2,GCM2,GPC3,HAAO,HPRT1,IFT140,IFT80,ITGA3,KANK2,KCNJ5,KIF7,LAMA5,LRP2,MAGED2,MITF,MOCOS,MYCN,NEK8,NPHP3,NSDHL,NUP93,PCBD1,PKD1,PMM2,PTPRO,ROBO2,SARS2,SCNN1G,SEC61A1,SLC12A1,SLC26A3,SLC3A1,SLC6A19,SMARCB1,STRADA,TCTN2,TMEM138,TMEM67,TRAF3IP1,TSC1,UMOD,WBP11,WDR73,XDH,ZNF423,ADAMTS9,ALG5,AMN,APOA2,ARHGDIA,ATP6V0A4,B9D1,BBS12,BCS1L,C1QB,CASR,CD59,CEP164,CFB,CILK1,CLDN16,COL4A4,CPLANE1,CUL3,DAAM2,DIS3L2,DYNC2H1,EIF2AK3,EVC2,FAM20A,FGF20,FN1,FXYD2,GLA,GPHN,HNF1A,HPSE2,IFT172,IFT81,ITGA8,KAT6B,KCTD1,KLHL3,LAMB2,LRP4,MAGI2,MKKS,MOCS1,MYH9,NF1,NPHP4,NUP107,OCRL,PDE6D,PKD2,PODXL,PUF60,ROR2,SCARB2,SDCCAG8,SEC63,SLC12A3,SLC2A2,SLC41A1,SLC6A20,SMC1A,SUFU,TCTN3,TMEM216,TNS2,TRAP1,TSC2,USP9X,WDPCP,WNK1,XPNPEP3250700031F×17×80%2720100272000003045=J39*I3931遺傳性疾病新生兒黃疸相關(guān)基因檢測(cè)ABCA1,ABCB11,ABCB4,ABCC2,ACADM,ACADVL,ADK,AGA,AGL,AGPAT2,AKR1D1,ALAD,ALAS2,ALDOB,ALG1,ALG3,ALG8,AMACR,ANGPTL3,AP3B1,APOB,APOC2,ARG1,ARSB,ASAH1,ASL,ASS1,ATP6AP1,ATP6AP2,ATP7B,ATP8B1,B4GALT1,BAAT,BCS1L,BSCL2,CAVIN1,CBS,CC2D2A,CCDC115,CD27,CD40LG,CFTR,CLDN1,COG2,COG4,COG6,COG7,CP,CPS1,CPT1A,CPT2,CTNS,CYBA,CYBB,CYBC1,CYP27A1,CYP7A1,CYP7B1,DCDC2,DGUOK,DHCR7,DHDDS,DLD,DNAJB11,DPM1,DPM2,DZIP1L,EFL1,EIF2AK3,EPM2A,ETFA,ETFB,ETFDH,FAH,FARS2,FARSB,FBXL4,FECH,FGA,FGB,FGG,FTH1,FUCA1,G6PC1,GAA,GALE,GALK1,GALM,GALNS,GALT,GANAB,GATA1,GBE1,GFM1,GLB1,GNPTAB,GNPTG,GNS,GUSB,GYS2,HADH,HADHA,HADHB,HAMP,HFE,HGSNAT,HJV,HMGCL,HNF1B,HSD17B4,HSD3B7,IARS1,IDS,IDUA,INVS,ITK,JAG1,LARS1,LDLR,LIPA,LMNA,LPL,LRP5,LYST,MAGT1,MAN2B1,MARS1,MCOLN1,MKS1,MPI,MPV17,MTTP,MVK,MYO5B,NAGLU,NAGS,NBAS,NCF2,NCF4,NEU1,NGLY1,NHLRC1,NOTCH2,NPC1,NPC2,NPHP1,NPHP3,NPHP4,NR1H4,OTC,PCSK9,PEX1,PEX10,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PGM1,PHKA2,PHKB,PHKG2,PKD1,PKD2,PKHD1,PKLR,PMM2,POLG,PPOX,PRF1,PRKCSH,PYGL,RAB27A,RFT1,RINT1,RPGRIP1L,SCO1,SCYL1,SEC63,SERAC1,SERPINA1,SGSH,SH2D1A,SLC22A5,SLC25A13,SLC25A15,SLC25A20,SLC2A2,SLC37A4,SLC40A1,SLC7A7,SLCO1B1,SLCO1B3,SMPD1,STT3B,STX11,STXBP2,SUCLG1,TALDO1,TFR2,TJP2,TMEM165,TMEM199,TMEM216,TMEM67,TRMU,TSFM,TTC37,TWNK,TYMP,UGT1A1,UNC13D,UROD,UROS,VIPAS39,VPS33B,XIAP,SLC10A1250700031F×17×80%2720100272000003045=J40*I4032遺傳性疾病HLA多態(tài)性分析HLA多態(tài)性分析250700017-12419310041930000469=J41*I4133遺傳性疾病培養(yǎng)細(xì)胞的染色體分析+細(xì)胞培養(yǎng)培養(yǎng)細(xì)胞的染色體分析+細(xì)胞培養(yǎng)250700014-*10000666=J42*I4234遺傳性疾病心肌肥厚基因鑒別診斷覆蓋肥厚型心肌病、心肌淀粉樣變、Danon病、法布雷氏病、糖原貯積癥等多種疾病鑒別，鑒別診斷，輔助預(yù)后，家系管理，遺傳阻斷250700031F×26×80%4*0004657=J43*I4335遺傳性疾病遺傳性心肌病基因檢測(cè)覆蓋肥厚型心肌病、擴(kuò)張型心肌病、致密化不全心肌病、致心律失常性心肌病、心肌淀粉樣變、Danon病、法布雷氏病、肌營(yíng)養(yǎng)不良、代謝型心肌病、Noonan綜合征、糖原貯積癥、脂肪酸代謝疾病、粘多糖病、溶酶體貯積病、有機(jī)酸及過(guò)氧化物代謝疾病等疾病鑒別，鑒別診斷，輔助預(yù)后，家系管理，遺傳阻斷250700031F×31×80%4960100496000005553=J44*I4436遺傳性疾病遺傳性心律失?；驒z測(cè)覆蓋長(zhǎng)QT綜合征、兒茶酚胺敏感性室性心動(dòng)過(guò)速、短QT綜合征、早復(fù)極綜合征、Brugada綜合征、家族性病竇綜合征、家族性心房顫動(dòng)、家族性心室顫動(dòng)、家族性惡化性房室傳導(dǎo)阻滯、致心律失常性心肌病等疾病鑒別，鑒別診斷，輔助預(yù)后，家系管理，遺傳阻斷250700031F×31×80%4960100496000005553=J45*I4537遺傳性疾病心源性猝死基因檢測(cè)1早期/明確診斷：尤其年輕HCM患者往往首發(fā)癥狀即為猝死，很難被挽救。只有基因檢測(cè)才能未雨綢繆;250700031F×33×80%5280100528000005911=J46*I462準(zhǔn)確區(qū)分：不同基因突變導(dǎo)致的心血管疾病，臨床表現(xiàn)可能相同或相似，傳統(tǒng)檢查對(duì)此難以區(qū)分?；驒z測(cè)從分子層面進(jìn)行精準(zhǔn)分型、鑒別診斷，有助于指導(dǎo)用藥及判斷預(yù)后;3正確干預(yù)：基于基因檢測(cè)結(jié)果，采取針對(duì)性的干預(yù)可以有效降低猝死概率;4避免遺傳：明確家族中所有致病突變攜帶者，可通過(guò)選擇性生育，從根本上杜絕致病突變?cè)诩蚁抵械膫鬟f，徹底避免猝死悲劇的發(fā)生。38藥物基因檢測(cè)硫唑嘌呤用藥基因檢測(cè)檢測(cè)基因列表（2個(gè)基因）250700031F×240010040000000448=J50*I50TPMT,NUDT1539藥物基因檢測(cè)他克莫司用藥基因檢測(cè)CS3011CYP3A5（rs776746）；CS3012CYP3A4（rs2740574）；CS3023CYP3A4（rs2242480）250700031F×240010040000000448=J52*I5240藥物基因檢測(cè)安全用藥基因組套檢測(cè)基因列表（33個(gè)基因）250700031F×61200100120000001343=J53*I53ABCB1,ACE,ADRB1,ADRB2,ALDH2,ANKK1,ApoE,CACNA1S,CRHR1,CYP2C19,CYP2C8,CYP2C9,CYP2D6,CYP3A4,CYP3A5,G6PD,GP1BA,GSTP1,HLA-B,IFNL3,KCNJ11,LTC4S,MTHFR,MT-RNR1,NAT2,POLG,PTGS1,PTGS2,RYR1,SCN2A,SLC22A1,SLCO1B1,VKORC141藥物基因檢測(cè)兒童安全用藥基因ABCB1,ADRB2,CRHR1,CYP2C19,CYP2C8,CYP2C9,CYP2D6,G6PD,IFNL3,MT-RNR1,NAT2,POLG,PTGS2,SLCO2B1,VKORC1250700031F×240010040000000448=J55*I5542藥物基因檢測(cè)高血壓安全用藥基因6類(lèi)25種藥物15個(gè)基因21個(gè)位點(diǎn)：氫氯噻嗪,氯噻酮,美托洛爾,阿替洛爾,比索洛爾,普萘洛爾,卡維C地洛,拉貝洛爾,噻嗎洛爾,丁呋洛爾,硝苯地平,維拉帕米,氨氯地平,地爾硫卓,卡托普利,依那普利,賴(lài)諾普利,培哚普利,雷米普利,氯沙坦,纈沙坦,厄貝沙坦,替米沙坦,坎地沙坦,肼苯噠嗪檢測(cè)基因：ACE,ADRB1,ADRB2,AGTR1,CYP2C19,CYP2C9,CYP2D6,CYP3A4,CYP3A5,GNB3,NAT2,NEDD4L,PLD3,PRKCA,YEATS4250700031F×480010080000000896=J56*I5643藥物基因檢測(cè)華法林安全用藥基因基因多態(tài)性CYP2C9*2(c430C>T)、CYP2C9*3(c1075A>C)、VKORC1-1639G>AB250700017-4×3399310039930000447=J57*I5744藥物基因檢測(cè)抗抑郁安全用藥基因26種藥物7個(gè)基因15個(gè)位點(diǎn)（阿米替林、多塞平、丙米嗪、氯米帕明、去甲替林、地昔帕明、曲米帕明、普羅替林、嗎氯貝胺、馬普替林、米安色林、西酞普蘭、舍曲林、氟西汀、帕羅西汀、氟伏沙明、艾司西酞普蘭、沃替西汀、昂丹司瓊、文拉法辛、度洛西汀、米那普侖、托莫西汀、丁胺苯丙酮、米氮平、依匹唑派）7個(gè)基因:ABCB1(2),ANKK1,CYP2C19(3),CYP2D6(5),DRD2,FKBP5(2),HTR1A250700031F×480010080000000896=J58*I5845藥物基因檢測(cè)抗癲癇類(lèi)安全用藥基因包含27種藥物（苯巴比妥、安定、氯硝西泮、氧異安定、氯羥去甲安定、阿普唑侖、奧沙西泮、咪達(dá)唑侖、苯妥英、磷苯妥因、卡馬西平、奧卡西平、加巴噴丁、托吡酯、丙戊酸、拉莫三嗪、唑尼沙胺、乙琥胺、左乙拉西坦、咖啡因、布瓦西坦、肌安寧、丁螺環(huán)酮、托莫西汀、哌甲酯、右旋安非他命、可樂(lè)定）。17個(gè)基因（ABCB1,ADORA2A,ANKK1,CES1,CYP1A2,CYP2C19(2),CYP2C9(2),CYP2D6(5),CYP3A5,DRD1,GNB3,HLA-B(2),POLG,SCN1A,SCN2A,UGT1A4,UGT2B15）250700031F×480010080000000896=J59*I5946藥物基因檢測(cè)抗感染類(lèi)安全用藥基因5大類(lèi)78種藥物32個(gè)基因51個(gè)位點(diǎn)抗寄生蟲(chóng)?。杭紫踹蚵揉野粪奏げ编笮溥蛄u氯喹抗病毒：阿巴卡韋阿扎那韋奈韋拉平聚乙二醇干擾素α-2a利巴韋林特拉匹韋伐昔洛韋依非韋倫奈非那韋富馬酸替諾福韋二吡呋酯拉米夫定奈韋拉平司他夫定硫酸茚地那韋纈更昔洛韋金剛烷胺利托那韋屈氟尿苷度魯特韋恩曲他濱拉替拉韋甲磺酸沙奎那韋索非布韋維帕他韋阿德福韋酯齊多夫定抗真菌：伏立康唑特比萘芬伊曲康唑氟康唑黃連素紅霉素伏立康唑抗細(xì)菌：氨基糖苷雙氯西林頭孢噻肟柳氮磺吡啶紅霉素乙胺丁醇異煙肼利福平克林霉素氟氯西林氯霉素環(huán)丙沙星乙胺丁醇利福平吡嗪酰胺頭孢曲松異煙肼二甲胺四環(huán)素克拉霉素呋喃妥因頭孢氨芐左氧氟沙星氨苯砜沙利度胺琥珀酸乙紅霉素甲氧芐氨嘧啶磺胺嘧啶磺胺嘧啶銀磺胺多辛磺胺甲惡唑磺胺米隆芐青霉素諾氟沙星達(dá)托霉素阿奇霉素阿莫西林抗過(guò)敏：扎魯司特孟魯司特非索非那定沙丁胺醇地塞米松地氯雷他定異丙嗪250700031F×5100010010000000112=J60*I60基因清單：ABCB1(3),ABCC2,ABCC4(2),ABCG2(2),ADRB2,ALDH2,CYP2A6,CYP2B6(2),CYP2C19(2),CYP2C9,CYP2D6(5),CYP3A4(2),CYP3A5,ERCC1,G6PD,GSTP1,HLA-B*5701,HLA-B*3505,HLA-B*1527,HLA-DRA(2),IFNL3(2),LTC4S,MTHFR(2),MT-RNR1,NAT2(4),NOD2,SLC15A2,SLC22A1,SLC22A2,SLC22A6,SLC22A8,SLC47A1,SLCO2B1(2),UGT1A147藥物基因檢測(cè)抗精神病安全用藥基因20種藥物9個(gè)基因16個(gè)位點(diǎn)（利培酮奧氮平丁苯那嗪喹硫平帕利哌酮三氟拉嗪哌羅匹隆氟奮乃靜氯丙嗪硫利噠嗪阿立哌唑三氟噻噸氟哌啶醇氯氮平珠氯噻醇伊潘立酮氨磺必利匹莫齊特奮乃靜布瑞哌唑），20種藥物9個(gè)基因16個(gè)位點(diǎn)?；蚯鍐危篈BCB1,ANKK1,CYP1A2,CYP2D6(6),CYP3A5,DRD2,DRD4,HTR1A(3),HTR2C,RGS4250700031F×480010080000000896=J62*I6248藥物基因檢測(cè)抗風(fēng)濕痛風(fēng)安全用藥基因ABCB1,CYP19A1,CYP1A2,CYP2C9,FCGR3A,FDPS,GSTP1,HLA-B,MTHFR,NAT2,NUDT15,TNF,TPMT,VDR250700031F×480010080000000896=J63*I6349藥物基因檢測(cè)巰嘌呤類(lèi)藥物安全用藥基因檢測(cè)(NGS)TPMT,NUDT*F×240010040000000448=J64*I6450藥物基因檢測(cè)心血管安全用藥基因ABCB1,ACE,ALDH2,ApoE,CYP2C19,CYP2C9,CYP2D6,CYP3A4,CYP3A5,GNB3,GP1BA,HLA-B,KCNE1,LTC4S,PTGS1,SLCO1B1,VKORC1250700031F×480010080000000896=J65*I6551藥物基因檢測(cè)三高安全用藥基因ABCB1,ACE,ADRB1,ADRB2,AGTR1,ApoE,CYP2C19,CYP2C8,CYP2C9,CYP2D6,CYP3A4,CYP3A5,GNB3,KCNJ11,NAT2,PLCD3,PRKCA,SLC22A1,SLCO1B1,YEATS4250700031F×5100010010000000112=J66*I6652腫瘤基因檢測(cè)無(wú)創(chuàng)腸癌基因檢測(cè)Septin9250700031F20010020000000224=J67*I6753腫瘤基因檢測(cè)多靶點(diǎn)糞便基因甲基化檢測(cè)SDC2和TFPI2250700031F×240010040000000448=J68*I6854腫瘤基因檢測(cè)宮頸癌甲基化PAX1和JAM3250700031F×240025010000000112=J69*I6955腫瘤基因檢測(cè)肝癌甲基化GNB4/Piplet250700031F×240025010000000112=J70*I7056腫瘤基因檢測(cè)胃癌雙基因甲基化RNF180/Septin9250700031F×240025010000000112=J71*I7157腫瘤基因檢測(cè)胃癌三基因甲基化Reprimo/SDC2/TCF4250700031F×240025010000000112=J72*I7258腫瘤基因檢測(cè)肺癌三基因甲基化SHOX2/RASSF1A/PTGER4250700031F×240025010000000112=J73*I7359腫瘤基因檢測(cè)食管癌甲基化MT-1A/Epo/Septin9250700031F×240025010000000112=J74*I7460腫瘤基因檢測(cè)膀胱癌、腸癌、膽管/肝癌、肺癌、膠質(zhì)瘤、卵巢癌、前列腺癌、乳腺癌等檢測(cè)方案（ctDNA）膀胱癌、腸癌、膽管/肝癌、肺癌、膠質(zhì)瘤、卵巢癌、前列腺癌、乳腺癌等檢測(cè)方案（ctDNA）250700031F×12×80%1920250480000005374=J75*I7561腫瘤基因檢測(cè)膀胱癌、腸癌、膽管/肝癌、肺癌、膠質(zhì)瘤、卵巢癌、前列腺癌、乳腺癌等膀胱癌檢測(cè)方案（FFPE）膀胱癌、腸癌、膽管/肝癌、肺癌、膠質(zhì)瘤、卵巢癌、前列腺癌、乳腺癌等檢測(cè)方案（FFPE）250700031F×10×80%*00004478=J76*I76加權(quán)下浮率（%）：=SUM(K3:K76)