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Лаборатория Genetico проводит секвенирование ДНК нового поколения (NGS) на самом современном оборудовании в наиболее короткие сроки. Данные интерпретируют высокопрофессиональные врачи-генетики и биоинформатики, имеющие опыт более 5000 исследований NGS. По результатам исследования полноэкзомного секвенирования Ixome можно получить очную или онлайн-консультацию врача-генетика.
Особенности исследования Ixome (поноэкзомное секвенирование)
- Установление непосредственной молекулярной причины заболевания на уровне изменений в последовательности ДНК экзомных участков генов
- Уникальный контроль качества результата
- Средняя глубина покрытия 100х – высокая точность прочтения
- Самое современное оборудование Illumina (включая NovaSeq 6000)
Секвенирование экзома Ixome (Анализ ДНК) в Лаборатории Genetico проводится на оборудовании лидера отрасли – Illumina высокоточным методом секвенирования нового поколения (NGS — Next Generation Sequencing).
Биоматериал для исследования: образец крови.
Памятка для пациента перед проведением полноэкзомного секвенирования.
Вас интересует секвенирование для научных целей? В том числе секвенирование не человека, а других организмов?
Наша лаборатория проводит секвенирование для научных организаций
Узнать большеADARB1, ADGRG1 (GPR56) , (ADCK3), (ADCK4), (ADPRHL2), (ADSSL1), (APOA1BP), (APOP), (ARMC4), (ATP5A1), (B3GNT1), (C10orf11), (C11ORF73), (C17orf62), (C19ORF40), (C1ORF106), (C21orf2), (C21orf59), (C2orf71), (CCDC11), (CCDC114), (CCDC151), (CCDC19), (CCDC41), (CD40LG), (CECR1), (COL4A3BP), (CXORF56), (DARS), (DFNB31), (DYX1C1), (EFCAB4B), (EFTUD1), (EPRS), (EPT1), (ERBB2IP), (FAM105B), (FAM134B), (FAM57B), (FDX1L), (G6PC), (GARS), (GLTSCR1), (GPR126), (GPR56), (GPR98), (HEATR2), (IKBKAP), (ISPD), (KAL1), (KARS), (KIAA0196), (KIAA0226), (KIAA0556), (KIAA1033), (KIAA1161), (KIAA1715), (KIAA2022), (LARGE), (LEPREL1), (LINS), (LRRC6), (MARS), (MKL1), (MLTK), (MRE11A), (NSE3, (PARK2), (PIH1D3), (PROSC), (PTRF), (RLTPR), (SEPN1), (SEPT9), (SPG20), (SUV420H1), (TMEM173), (TMEM5), (WARS), (WDR16), (WDR34), (YARS), AARS2, AASS, ABAT, ABCA1, ABCA2 , ABCB11, ABCB4, ABCB6, ABCB7, ABCB7 , ABCC1, ABCC6, ABCC6 , ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACD, ACOX1, ACOX2, ACSF3, ACSL4, ACTA1, ACTC1, ACTG1, ACTL6B, ACTL6B , ACTN1, ACTN4, ACVR1, ACVR2B, ACVRL1, ACY1, ACY1 , ADA2, ADAM17, ADAM22, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS3, ADAR, ADARB1, ADAT3, ADCY1, ADCY5, ADCY6, ADD3, ADGRG1, ADK, ADK , ADNP, ADPRS, ADPRS (ADPRHL2), ADSL, ADSL , ADSS1, AEBP1, AFF2, AFF4, AFG3L2 , AGA, AGA , AGBL1, AGBL5, AGK, AGL, AGRN, AGTPBP1, AHCY, AHR, AICDA, AIFM1, AIFM1 , AIMP1, AIMP1 , AIMP2, AIPL1, AIRE, AK2, AKAP9, AKR1D1, AKT1, AKT2, ALAD, ALAS2, ALDH1A3, ALDH3A2, ALDH3A2 , ALDH4A1, ALDH5A1, ALDH5A1 , ALDH6A1, ALDH7A1, ALDH7A1 , ALDOA, ALG1 , ALG11, ALG11 , ALG12, ALG13, ALG13 , ALG14, ALG14 , ALG2, ALG2 , ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPI, ALPK3, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMER1, AMN, AMPD1, AMT, ANAPC1, ANG, ANGPTL3, ANK2, ANKLE2, ANKRD11, ANKRD11 , ANKRD26, ANKS6, ANLN, ANO10, ANO3, ANOS1, ANTXR2, ANXA11, AP1S3, AP2M1, AP2M1 , AP3B2, AP3D1, AP4B1, AP4E1, AP4E1 , AP4S1, AP5Z1, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APOL1, APP, APRT, APTX, AQP2, ARFGEF2, ARG1, ARHGAP24, ARHGDIA, ARHGEF1, ARHGEF10, ARHGEF18, ARHGEF9, ARL13B, ARL2BP, ARL6, ARL6IP1, ARMC9, ARPC1B, ARR3, ARSA, ARSA , ARSE, ARSG, ARV1, ARV1 , ARX , ASAH1, ASB10, ASCC1, ASH1L, ASL, ASL , ASNS, ASNS , ASPA, ASPA , ASPH, ASPM, ASS1, ASXL3, ATAD1 , ATAD3A, ATCAY, ATF6, ATG4A, ATG5, ATIC, ATIC , ATL1, ATL3, ATN1 , ATOH7, ATP13A2, ATP1A1 , ATP1A2, ATP1A3, ATP1A3 , ATP2A1, ATP2B2, ATP2B3, ATP5F1D, ATP5F1E, ATP5MK (ATP5MD), ATP6AP2, ATP6AP2 , ATP6V0A2 , ATP6V0A4, ATP6V1A , ATP6V1B2, ATP6V1E1, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8, ATXN8OS, AUH, B2M, B3GALNT2, B3GALT6, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, BAAT, BACH2, BAG5, BANF1, BBS10, BBS2, BBS4, BBS5, BBS7, BCAP31, BCAT2, BCKDHA, BCKDHB, BCKDHB , BCKDK , BCL10, BCL11A, BCL11B, BCS1L , BDP1, BEAN1, BICD2, BICRA, BIN1, BLK, BLM, BLNK, BLVRA, BMP2, BMP4, BMPER, BMPR1B, BNC2, BOLA3, BOLA3 , BRAF, BRAT1, BRCA1, BRCA2, BRIP1, BRWD3, BSCL2, BTD, BTD , BTK, BUB1B , BVES, C10orf11, C12ORF4, C12orf57 , C19orf12, C1QBP, C1S, C2, C2CD3, C5, C6, C7, C8A, C8B, C8G, C8orf37, C9, C9orf72, CA5A, CA8, CABP2, CABP4, CACNA1A , CACNA1B , CACNA1D, CACNA1D , CACNA1E, CACNA1F, CACNA1G, CACNA1G , CACNA1S, CACNA2D2, CACNA2D2 , CACNB2, CACNB4, CACNG2, CAD, CAD , CALCRL, CALM1, CALM2, CALM3, CAMK2A, CAMK2A , CAMK2B, CAMK2B , CAMK2G, CAMTA1, CANT1, CAPN1, CAPN3, CARD11, CARD14, CARD8, CARD9, CARMIL2, CARS2, CASK, CASK , CASP8, CASQ1, CASQ2, CAT, CAV1, CBL, CBLIF, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC115, CCDC39, CCDC40, CCDC47, CCDC50, CCDC65, CCDC78, CCDC8, CCDC88A, CCND2, CCNF, CCNO, CCT5, CD164, CD19, CD247, CD27, CD28, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CD96, CDC14A, CDC45, CDC73, CDCA7, CDH15, CDH2, CDH3, CDK13, CDK19, CDK19 , CDK5RAP2, CDK6, CDKL5, CEACAM16, CEBPA, CEBPE, CEL, CENPF, CENPJ, CEP104, CEP135, CEP164, CEP19, CEP41, CEP63, CERKL, CERS1 , CERT1, CETP, CFAP298, CFAP45, CFAP52, CFAP53, CFC1, CFD, CFHR1, CFHR2, CFHR3, CFI, CFL2, CFP, CHAMP1, CHCHD10, CHCHD2, CHD2, CHD2 , CHD3, CHD8, CHKB, CHMP1A, CHMP2B, CHMP4B, CHRDL1, CHRNA2 , CHRNA4 , CHRNB1, CHRNB2 , CHST14, CHST3, CHST6, CIB1, CIC, CIITA, CIT, CITED2, CLCC1, CLCN1, CLCN2, CLCNKB, CLDN14, CLDN19, CLDN9, CLEC7A, CLIC2, CLIC5, CLN3, CLN3 , CLN5, CLN5 , CLN6, CLN8, CLN8 , CLP1, CLPB, CLPP, CLPP , CLPX, CLTC , CNBP, CNGA1, CNGB1, CNGB3, CNKSR2, CNNM2 , CNNM4, CNOT3, CNPY3, CNPY3 , CNTN1, CNTN2 , CNTNAP2 , COA3, COA5, COA6, COA7, COA8 (APOPT1) , COASY, COASY , COCH, COG2, COG4, COG4 , COG5, COG5 , COG6 , COG7 , COG8, COG8 , COL10A1, COL11A1, COL13A1, COL17A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A3, COL7A1, COL9A2, COLEC11, COMP, COPA, COPG1, COQ2, COQ2 , COQ4, COQ4 , COQ5, COQ6, COQ7, COQ8A (ADCK3) , COQ8B, COQ9, COQ9 , CORO1A, COX10, COX14, COX15, COX16, COX20, COX4I1, COX5A, COX6A1, COX6A2, COX6B1, COX6B1 , COX7B, COX8A, CP, CPAMD8, CPLX1, CPOX, CPS1, CPSF1, CPT1A, CPT1C, CPT2, CPT2 , CR2, CRACR2A, CRADD, CRAT, CRB1, CRB2, CRBN, CREB3L1, CRELD1, CRLF1, CRYAA, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGB, CRYGC, CRYGD, CRYGS, CRYM, CSF1R, CSF1R , CSF2RB, CSF3R, CSNK2A1, CSNK2B , CSRP3, CSTB, CSTB , CTBP1, CTC1, CTC1 , CTCF, CTH, CTLA4, CTNNA1, CTNNA3, CTNNBL1, CTNS, CTPS1, CTSA, CTSD, CTSF, CTSF , CUL4B , CUL7, CUX2, CUX2 , CWC27, CWF19L1, CXCR2, CXCR4, CYB5R3, CYBA, CYBB, CYBC1, CYC1, CYFIP2, CYLD, CYP11B2, CYP24A1, CYP2U1, CYP4V2, D2HGDH , DAB1, DAG1, DALRD3 , DARS1, DBH, DBR1, DBT, DCAF8, DCHS1, DCLRE1C, DCN, DCT, DCTN1, DCX , DDHD1, DDHD2, DDOST, DDRGK1, DDX41, DEF6, DEGS1 , DENND5A, DGKE, DGUOK, DHCR24, DHDDS, DHFR , DHODH, DHPS, DHX38, DIABLO, DIAPH3, DICER1, DIS3L2, DKC1, DLG3, DLG4, DLL1, DLL3, DLL4, DMGDH, DMPK, DMXL2, DMXL2 , DNA2, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJB2, DNAJB6, DNAJC19, DNAJC21, DNAJC3, DNAJC5, DNAJC6, DNASE1L3, DNASE2, DNM1, DNM1 , DNM1L, DNM1L , DNM2, DNMBP, DNMT3A, DNMT3B, DOCK2, DOCK3, DOCK6, DOCK7, DOCK7 , DOCK8, DOK7, DOLK , DONSON, DPAGT1, DPAGT1 , DPM1 , DPM2 , DPM3, DPM3 , DPP6, DPYD, DPYS , DRAM2, DRC1, DSC2, DSC3, DSE, DSG1, DSG2, DSP, DSPP, DST, DTNA, DTNBP1, DVL1, DVL3, DYM, DYNC1H1 , DYNC2H1, DYNLT2B, DYRK1A , DYRK1B, DYSF, DZIP1L, EARS2 , EBF3, EBP, EBP, ECE1, ECEL1, ECHS1, ECHS1 , ECM1 , EDC3, EDEM3, EDNRA, EED, EEF1A2, EEF1A2 , EEF2, EFEMP1, EFEMP2, EFNB1, EFTUD2, EGF, EGF , EGFR, EGR2, EHMT1, EHMT1 , EIF2AK1, EIF2AK2, EIF2B1, EIF2B1 , EIF2B2, EIF2B2 , EIF2B3, EIF2B3 , EIF2B4, EIF2B4 , EIF2B5, EIF2B5 , EIF2S3, EIF3F, ELANE, ELF4, ELMOD3, ELN, ELOVL1, ELOVL5, ELP1, ELP2, EMP2, ENG, ENPP1, ENTPD1, EOGT, EP300, EPB41L1, EPG5, EPHB4, EPM2A, EPM2A , EPRS1, EPS8, EPS8L2, ERAL1, ERBB4, ERBIN, ERCC1, ERCC2, ERCC4, ERCC6, ERCC6L2, ERF, ERLIN1, ERLIN2, ESRP1, ESRRB, ETFA, ETHE1 , ETV6, EVC, EVC2, EXOC3L2, EXOC6B, EXOC7 , EXOC8 , EXOSC2, EXOSC8, EXT1, EXT2, EXT2 , EXTL3, EYA1, EZH2, F12, FA2H, FAAP24, FADD, FAH, FAM111A, FAM126A, FAM126A , FAM161A, FAM20A, FAM20C, FAM46A, FAM50A, FAM58A, FANCA, FANCB, FANCM, FAR1 , FARS2 , FAS, FASLG, FASTKD2 , FAT2, FAT4, FBLN1, FBLN5, FBN1, FBN2, FBP1, FBXL4 , FBXO11, FBXO31, FBXO38, FBXO7, FCGR3A, FCHO1, FCN3, FCSK, FDFT1 , FDXR, FECH, FERMT3, FGD4, FGF10, FGF12, FGF12 , FGF13, FGF13 , FGF14, FGF16, FGF23, FGF3, FGF8, FGF9, FGFR3, FH , FHL1, FHOD3, FIBP, FKBP10, FKTN, FLCN, FLNA, FLNA , FLNB, FLT4, FLVCR2, FMN2, FMO3, FN1, FNIP1, FOLR1, FOLR1 , FOXC1, FOXE3, FOXF1, FOXG1 , FOXI1, FOXN1, FOXP1, FOXP2, FOXRED1 , FPR1, FREM1, FRMD4A, FRMD7, FRMPD4, FSCN2, FTCD, FTH1, FTL, FTO, FTSJ1, FUCA1, FUS, FUT8, FUT8 , FXR1, FYCO1, FZD2, FZD4, G6PC1, G6PC1 (G6PC), G6PC3, GAA, GAB1, GABBR2 , GABRA1, GABRA1 , GABRA2, GABRA2 , GABRA5, GABRA5 , GABRB1, GABRB1 , GABRB2 , GABRB3, GABRB3 , GABRG2, GABRG2 , GAD1, GAD1 , GAL , GALC , GALE, GALM, GALNT2, GALNT3, GALT, GAMT, GAMT , GAN, GARS1, GAS2L2, GAS8, GATA1, GATA2, GATA3, GATA4, GATA5, GATA6, GATAD1, GATAD2B, GATAD2B , GATB, GATC, GATM , GBA, GBA , GBA2, GBF1, GCDH , GCH1 , GCK, GCLC, GCNT2, GCSH, GCSH , GDAP1, GDAP2, GDF1, GDF2, GDF5, GDF6, GDI1, GFAP , GFI1, GFI1B, GFM1 , GFM2 , GFPT1, GH1, GHRHR, GHSR, GINS1, GIPC1, GIPC3, GJA1, GJA3, GJA5, GJA8, GJB1, GJB2, GJB3, GJB6, GLA, GLB1 , GLDC , GLI1, GLI2, GLIS2, GLRA1, GLRA1 , GLRB, GLRB , GLS , GLUD1, GLUL , GMNN, GMPPB, GNA11, GNAI2, GNAI3, GNAL, GNAO1 , GNB1 , GNB3, GNB4, GNB5, GNE, GNMT, GNS, GORAB, GOSR2, GOSR2 , GOT2, GOT2 , GPAA1 , GPC3, GPC6, GPD1, GPD1L, GPHN , GPI, GPIHBP1, GPR143, GPR179, GPR88, GPRASP2, GPSM2, GPT2, GPX1, GPX4, GRAP, GRIA2, GRIA3, GRIA3 , GRIA4, GRIA4 , GRID2, GRIN1 , GRIN2A, GRIN2A , GRIN2B , GRIN2D, GRIN2D , GRM1, GRM6, GRM7 , GRN, GRN , GRXCR1, GRXCR2, GSC, GSDME, GSR, GTPBP3, GTPBP3 , GUF1, GUF1 , GYS2, GZF1, HAAO, HACE1, HACE1 , HADH , HADHA , HADHB , HAVCR2, HAX1, HCFC1 , HCK, HCN1, HCN1 , HCN4, HECW2, HECW2 , HELLS, HEPACAM, HEPACAM , HERC2, HES7, HEXA , HFE, HGD, HGF, HGSNAT , HIBCH , HIKESHI, HINT1, HIVEP2, HK1, HLCS, HMGB3, HMGCL, HMGCS2, HMGCS2 , HMOX1, HMX1, HNF1A, HNF1B, HNMT, HNRNPA1, HNRNPA2B1, HNRNPDL, HNRNPH2, HNRNPK, HNRNPU, HNRNPU , HOMER2, HOXA1, HOXA11, HOXA2, HOXD10, HOXD13, HPCA, HPD, HPDL, HPGD, HPRT1, HPS1, HPS3, HPS5, HPS6, HRAS, HS6ST2, HSD11B2, HSD17B10, HSD17B10 , HSD17B4, HSD17B4 , HSD3B2, HSD3B7, HSF4, HSPA9, HSPB1, HSPB3, HSPB8, HSPD1 , HSPG2, HTR1A, HTRA1, HYAL1, HYDIN, HYOU1, IARS2, IBA57 , ICK, ICOS, ICOSLG, IDH3B, IDUA, IER3IP1, IFIH1, IFIH1 , IFITM5, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT81, IGBP1, IGF1, IGF1R, IGF2, IGFALS, IGHMBP2, IGLL1, IHH, IKBKB, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL11RA, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1RAPL1, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6, IL6R, IL6ST, IL7R, ILDR1, IMPA1, IMPAD1, IMPG1, INAVA, INO80, INPP5K, INPPL1, INS, INSR, INVS, IQCE, IRAK1, IRAK4, IREB2, IRF2BP2, IRF2BPL , IRF3, IRF4, IRF6, IRF7, IRF8, IRF9, IRGM, ISCA1, ISG15, ITCH, ITGA7, ITGA8, ITGB2, ITK, ITPA, ITPA , ITPKB, IVD, IVNS1ABP, JAG1, JAGN1, JAK1, JAK2, JAK3, JAM3 , JPH1, JPH2, JUP, KANK1, KANK2, KANSL1, KANSL1 , KAT6B, KATNB1, KATNIP, KBTBD13, KCNA1, KCNA1 , KCNA2, KCNA2 , KCNA5, KCNB1, KCNB1 , KCNC1, KCNC1 , KCNC3, KCNE2, KCNE3, KCNH1 , KCNH2, KCNJ1, KCNJ10 , KCNJ11, KCNJ5, KCNK4 , KCNMA1, KCNMA1 , KCNQ2, KCNQ2 , KCNQ3 , KCNQ4, KCNQ5, KCNQ5 , KCNT1 , KCNT2, KCNT2 , KCTD1, KCTD17, KCTD7, KCTD7 , KDELR2, KDM1A, KDM3B, KDM4B, KDM5B, KDM5C , KDM6B, KERA, KIAA0753, KIAA0825, KIAA1109, KIDINS220, KIF11, KIF12, KIF1A , KIF1B, KIF1C, KIF22, KIF2A , KIF3B, KIF4A, KIF5A, KIF5A , KIF7, KITLG, KLC2, KLF1, KLF11, KLHL15, KLHL3, KLHL41, KMT2A, KMT2B, KMT2E, KMT2E , KMT5B, KPTN, KRAS, KRIT1, KRT12, KY, KYNU, L2HGDH , LACC1, LAMA1, LAMA2, LAMA2 , LAMA4, LAMA5, LAMB1, LAMB1 , LAMC3, LAMC3 , LAMP2, LAMTOR2, LARGE1, LARP7, LARP7, LAS1L, LAT, LBR, LCA5, LCAT, LCK, LCP2, LCT, LDLR, LDLRAP1, LEMD2, LEMD3, LEP, LEPR, LFNG, LGI1 , LHFPL5, LHX3, LIAS , LIFR, LIG1, LIG4, LIM2, LIMS2, LINGO1, LINS1, LIPA, LIPC, LIPE, LIPT2, LITAF, LMAN2L, LMBR1, LMBRD1, LMF1, LMNB1 , LMNB2, LMNB2 , LMX1A, LMX1B, LNPK, LNPK (KIAA1715) , LONP1, LOXHD1, LOXL3, LPIN2, LPL, LRAT, LRBA, LRIT3, LRMDA, LRP12, LRP4, LRP5, LRPAP1, LRPPRC , LRRC56, LRRC8A, LRSAM1, LRTOMT, LSM11, LSS, LTBP3, LYRM4, LYZ, LZTFL1, LZTR1, MACF1 , MAD2L2, MAF, MAG, MAGED2, MAGEG1), MAGEL2, MAGT1, MAGT1 , MAK, MALT1, MAN1B1 , MAN2B2, MAP1LC3B2, MAP2K1, MAP3K14, MAP3K7, MAPK1, MAPK8, MAPKAPK3, MAPKBP1, MAPT, MARCHF6 (MARCH6) , MARS1, MARVELD2, MASP1, MASP2, MAT1A, MAT2A, MATN3, MATR3, MBD5, MBD5 , MBL2, MBOAT7, MBOAT7 , MBTPS1, MC4R, MCCC1 , MCCC2 , MCEE, MCIDAS, MCM10, MCM2, MCM3AP, MCM4, MCM5, MCOLN1, MCPH1, MDH1, MDH1 , MDH2, MDH2 , MECP2 , MECR, MED12 , MED13, MED17 , MED23, MED25, MED27, MEF2C , MEGF10, MEGF8, MEOX1, MERTK, MESD, MESP2, MET, METTL23, METTL5, MFF, MFRP, MFSD2A, MFSD8, MFSD8 , MGAT2, MGP, MIB1, MICOS13, MICU1, MID1, MID2, MIEF2, MIP, MIPEP, MIPEP , MITF, MKKS, MKS1, MLC1, MLC1 , MLYCD , MMAA, MMAA , MMAB, MMACHC , MMADHC , MME, MMP13, MMP14, MMP19, MMP2, MMP21, MMP9, MNS1, MNX1, MOCS1 , MOCS2, MOCS2 , MOGS , MORC2, MPDU1, MPDU1 , MPI, MPI , MPO, MPZ, MPZL2, MRAS, MRE11, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS2, MRPS22 , MRPS23, MRPS25, MRPS28, MRPS34, MRPS7, MRTFA, MS4A1, MSH2, MSH6, MSL3, MSN, MSRB3, MSTN, MSX1, MSX2, MTAP, MTFMT , MTHFR , MTHFS, MTHFS , MTMR2, MTO1, MTOR , MTR, MTR , MTRFR (C12ORF65), MTRR, MUC1, MVK, MYBPC3, MYCN, MYD88, MYH11, MYH6, MYH8, MYH9, MYL1, MYL3, MYL4, MYLK, MYLK2, MYLPF, MYO15A, MYO1E, MYO3A, MYO6, MYO9A, MYOC, MYOD1, MYORG, MYOT, MYOZ2, MYRF, MYSM1, MYT1L, NAA10, NAA15, NACC1 , NADSYN1, NAGLU, NAGLU, NAGS, NALCN , NANS, NARS1 (NARS) , NARS2, NARS2 , NAXE, NBAS, NBEA , NBN, NCAPD2, NCAPD3, NCAPH, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NDNL2, NDP, NDST1, NDST1 , NDUFA1, NDUFA1 , NDUFA13, NDUFA2 , NDUFA4, NDUFA6, NDUFA8, NDUFAF3 , NDUFAF5 , NDUFAF6 , NDUFAF8, NDUFB10, NDUFB11, NDUFB8, NDUFC2, NDUFS4 , NDUFS6 , NDUFS7 , NDUFS8 , NDUFV1 , NEB, NECAP1, NECAP1 , NECTIN1, NECTIN4, NEFH, NEFL, NEK2, NEK8, NEPRO, NEU1, NEU1 , NEUROD1, NEUROD2, NEUROD2 , NEXMIF, NEXMIF (KIAA2022) , NEXN, NFAT5, NFIB, NFKB1, NFKB2, NFKBIA, NFS1, NGF, NGLY1 , NHEJ1, NHLRC1, NHLRC1 , NHP2, NIN, NIPA1, NIPBL, NKAP, NKX2-1, NKX2-6, NKX3-2, NKX6-2, NLGN3, NLGN4X, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NMNAT1, NOD2, NODAL, NOG, NOL3 , NONO, NOP56, NOS2, NOTCH2, NOTCH3, NPC1 , NPC2 , NPHP3, NPHS1, NPHS2, NPM1, NPPA, NPR2, NPRL2, NPRL3 , NR0B2, NR1H4, NR2E3, NR2F1, NR2F1 , NR2F2, NR3C2, NRL, NRROS , NRXN1 , NSDHL, NSMCE2, NSMCE3, NSUN2, NSUN3, NT5C2, NTF4, NTRK2 , NUBPL , NUP107, NUP133, NUP155, NUP214, NUP37, NUP62, NUP88, NUP93, NUS1, NUS1 , NXN, NYX, OAS1, OBSL1, OCA2, OCLN, OCLN , ODAD1, ODAD2, ODAD3, OFD1, OFD1 , OGDH, OGT, OPA3, OPHN1 , OPLAH, OPN1LW, OPN1MW, OPN1SW, ORC1, ORC4, ORC6, OSBPL2, OTC , OTOA, OTOF, OTOG, OTOGL, OTUD6B, OTUD6B , OTULIN, OVOL2, OXCT1, P2RX2, P3H1, P3H2, P4HA2, P4HB, P4HTM , PABPN1, PAH, PAM16, PANK2, PANK4, PAPSS2, PARK7, PARN, PAX1, PAX3, PAX4, PAX7, PC, PCARE, PCBD1, PCCA, PCCB, PCDH12, PCDH15, PCGF2, PCK1, PCK2, PCLO, PCNA, PCNT, PCSK1, PCSK9, PCYT2, PDB4, PDCD1, PDE10A, PDE1C, PDE3A, PDE4D, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDE8B, PDGFB, PDGFRA, PDHA1, PDHX, PDK3, PDP1, PDSS2, PDX1, PDXK, PDYN, PDZD7, PET117, PFN1, PGK1, PGM1, PGM3, PHC1, PHF6, PHF8, PHIP, PHKA2, PHOX2A, PI4KA, PIEZO1, PIGC, PIGH, PIGL, PIK3CD, PIK3CG, PIK3R5, PIKFYVE, PIP5K1C, PISD, PITPNM3, PITX1, PITX2, PITX3, PJVK, PKD1, PKD1L1, PKDCC, PKLR, PKP1, PKP2, PLA2G6, PLCG2, PLD1, PLD3, PLEKHG2, PLEKHG5, PLG, PLIN1, PLN, PLOD2, PLOD3, PLS1, PLS3, PLVAP, PMP2, PMP22, PMPCA, PMPCB, PMS2, PNKD, PNPO, PNPT1, POC1A, POC1B, POGLUT1, POGZ, POLD1, POLD2, POLE, POLE2, POLG, POLG2, POLR1A, POLR1D, POLR3C, POLR3F, POMC, POMGNT2, POMK, POMT1, POMT2, POP1, POPDC3, POR, POU2AF1, POU3F4, POU4F1, POU4F3, PPA2, PPARG, PPCS, PPIB, PPIP5K2, PPM1K, PPOX, PPP1CB, PPP1R15B, PPP2CA, PPP2R2B, PPP3CA, PPT1, PRCD, PRDM12, PRDM16, PRDM6, PRDM8, PRDX1, PREPL, PRF1, PRIMPOL, PRKAG2, PRKAR1A, PRKCD, PRKCG, PRKD1, PRKDC, PRKG1, PRKN, PRKRA, PRNP, PROM1, PROP1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRSS12, PRSS56, PRX, PSAP, PSENEN, PSMB10, PSMB4, PSMB8, PSMB9, PSMD12, PSMG2, PSTPIP1, PTCD3, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTHLH, PTPN11, PTPRC, PTPRQ, PTS, PUF60, PXDN, PYCR1, PYGL, PYROXD1, QDPR, QRSL1, RAB11B, RAB23, RAB27A, RAB28, RAB33B, RAB3GAP1, RAB3GAP2, RAB7A, RAC1, RAC2, RAD51, RAG1, RAG2, RAI1, RANBP2, RAPGEF2, RARB, RARS2, RASA1, RASGRP1, RASGRP2, RAX, RAX2, RB1, RBBP8, RBM20, RBM28, RBM8A, RBMX, RBP3, RBP4, RBPJ, RC3H1, RCBTB1, RD3, RDH11, RDH12, RDH5, RDX, RECQL4, REEP1, REEP2, REEP6, REL, RELA, RELB, RERE, REST, RETREG1, RFWD3, RFX5, RFX6, RFXANK, RFXAP, RGR, RGS9, RGS9BP, RHO, RHOG, RHOH, RIMS1, RIN2, RIPK1, RIPK4, RIPOR2, RIPPLY2, RIT1, RLBP1, RLIM, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF125, RNF168, RNF170, RNF216, RNF31, RNU4ATAC, ROBO2, ROBO3, ROGDI, ROM1, ROR1, ROR2, RORC, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL10, RPL11, RPL18, RPL26, RPL3L, RPS19, RPS7, RPSA, RRAS2, RRM2B, RS1, RSPH1, RSPH3, RSPH4A, RSPH9, RSPRY1, RSRC1, RTEL1, RTN2, RTTN, RUBCN, RUNX1, RUNX2, RXYLT1, RYR2, S1PR2, SACS, SAG, SALL1, SALL2, SAMD12, SAMD9, SAMHD1, SAR1B, SASH3, SATB2, SBDS, SBF1, SCARF2, SCD5, SCN11A, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHD, SEC31A, SELENOI, SEMA3E, SEMA4A, SEMA6B, SEPSECS, SEPTIN9, SERPINB6, SERPINF1, SERPING1, SERPINH1, SET, SETBP1, SETD1B, SETX, SF3B4, SFRP4, SFXN4, SGMS2, SGPL1, SGSH, SH2D1A, SH3KBP1, SH3PXD2B, SH3TC2, SHANK2, SHOX, SI, SIGMAR1, SIL1, SIN3A, SIPA1L3, SIX1, SIX3, SIX5, SIX6, SKI, SKIV2L, SLC10A2, SLC10A7, SLC12A1, SLC12A2, SLC12A6, SLC13A3, SLC16A12, SLC17A8, SLC18A2, SLC18A3, SLC19A1, SLC19A3, SLC1A1, SLC20A2, SLC22A5, SLC24A1, SLC24A5, SLC25A1, SLC25A10, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A21, SLC25A24, SLC25A26, SLC25A38, SLC25A4, SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC29A3, SLC2A1, SLC2A2, SLC34A1, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC36A2, SLC38A8, SLC39A5, SLC39A7, SLC44A4, SLC45A2, SLC46A1, SLC4A1, SLC4A11, SLC4A4, SLC51B, SLC52A2, SLC5A1, SLC5A2, SLC6A17, SLC6A20, SLC6A3, SLC6A8, SLC6A9, SLC7A14, SLC7A6OS, SLC7A7, SLC9A3R1, SLC9A6, SLC9A7, SLC9A9, SLCO1B1, SLCO2A1, SLITRK6, SMAD2, SMAD6, SMARCA2, SMARCAL1, SMARCC2, SMARCD1, SMARCD2, SMC1A, SMN1, SMPD1, SMPX, SNAI2, SNAP25, SNAP29, SNCA, SNIP1, SNORA31, SNRNP200, SNRPB, SNTA1, SNX14, SOCS1, SOD1, SON, SORD, SOST, SOX10, SOX17, SOX2, SOX3, SOX4, SOX5, SOX6, SP110, SP7, SPAG1, SPARC, SPART, SPAST, SPATA5L1, SPATA7, SPECC1L, SPEG, SPG11, SPG21, SPG7, SPI1, SPINK5, SPINT2, SPNS2, SPPL2A, SPRED1, SPRED2, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SRP54, SRP72, SRPX2, SRTD1, SSBP1, SSR4, STAC3, STAG1, STAG2, STARD7, STAT1, STAT2, STAT3, STEEP1, STING1, STK4, STRADA, STRC, STUB1, STX11, STX1B, STXBP2, SUCLA2, SUFU, SUGCT, SUOX, SVIL, SYK, SYNE1, SYNE2, SYNE4, SYP, SYT14, SYT2, TAB2, TACSTD2, TAF13, TAFAZZIN (TAZ), TALDO1, TANGO2, TAP1, TAP2, TAPBP, TAPT1, TARDBP, TAT, TAZ, TBC1D20, TBC1D8B, TBCE, TBP, TBR1, TBX1, TBX15, TBX18, TBX20, TBX21, TBX22, TBX3, TBX4, TBX6, TCF12, TCF20, TCF3, TCF4, TCTEX1D2, TCTN2, TCTN3, TDP1, TDRD7, TEAD1, TECPR2, TECR, TECRL, TECTA, TEK, TENM3, TENT5A, TERT, TET2, TFAM, TFAP2A, TFAP2B, TFG, TFR2, TFRC, TGDS, TGFBI, TGFBR1, TGFBR2, TGIF1, TGM6, THAP1, THG1L, THOC2, TIA1, TICAM1, TIMM22, TIMMDC1, TIMP3, TINF2, TIRAP, TJP2, TK2, TLCD3B, TLK2, TLL1, TLR3, TLR7, TLR8, TMC1, TMC6, TMC8, TMCO1, TMEM106B, TMEM126A, TMEM132E, TMEM138, TMEM165, TMEM199, TMEM216, TMEM231, TMEM237, TMEM240, TMEM38B, TMEM67, TMEM70, TMEM98, TMIE, TMLHE , TMPRSS3, TMTC3, TMX2, TNC, TNFAIP3, TNFRSF11B, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF12, TNFSF13, TNFSF5, TNIK, TNNC1, TNNI3, TNNI3K, TNNT2, TNNT3, TNPO3, TNR, TNRC6A, TNXB, TOE1, TOP2B, TOPORS, TOR1AIP1, TP53, TP53RK, TP63, TPK1, TPM1, TPM3, TPP1, TPP2, TPRKB, TPRN, TRAF3, TRAF3IP1, TRAF3IP2, TRAF7, TRAPPC11, TRAPPC12, TRAPPC2, TRDN, TREX1, TRIM2, TRIM22, TRIM32, TRIM37, TRIO, TRIOBP, TRIP12, TRIT1, TRMT1, TRMT10C, TRMU, TRPA1, TRPC3, TRPC6, TRPM1, TRPM4, TRPS1, TRPS2, TRPV3, TRRAP, TSFM, TSHZ1, TSPAN12, TSPAN7, TSPEAR, TTBK2, TTC37, TTC7A, TTC8, TTI2, TTLL5, TTPA, TUBA1A, TUBA3D, TUBA4A, TUBA8, TUBB2B, TUBB4B, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TULP1, TUSC3, TWIST1, TWIST2, TXN2, TXNDC15, TYK2, TYR, TYROBP, TYRP1, UBA1, UBAP1, UBE2T, UBIAD1, UBQLN2, UBTF, UFC1, UFM1, UGT1A1, UMOD, UNC13D, UNC80, UNC93B1, UNG, UPF3B, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROC1, UROD, UROS, USB1, USP18, USP27X, USP45, USP53, VAC14, VAMP1, VAPB, VAX1, VCAN, VCL, VCP, VHL, VIM, VIPAS39, VLDLR, VMA21, VPS11, VPS13B, VPS13C, VPS13D, VPS16, VPS37A, VPS45, VRK1, VSX1, VSX2, VWA3B, WAC, WARS1, WAS, WASHC4, WASHC5, WBP2, WDFY3, WDPCP, WDR1, WDR19, WDR34, WDR36, WDR4, WDR45, WDR60, WDR62, WDR81, WIPF1, WISP3, WNK1, WNK4, WNT1, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WRAP53, WT1, WWTR1, XIAP, XK, XPNPEP3, XPR1, XRCC1, XRCC4, XYLT1, YAP1, YARS1, YEATS2, YME1L1, YY1AP1, ZAP70, ZBTB11, ZBTB18, ZBTB24, ZBTB42, ZC3H14, ZC4H2, ZCCHC8, ZEB1, ZEB2, ZFHX4, ZFP57, ZFPM2, ZFYVE26, ZFYVE27, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYND10, ZMYND11, ZNF292, ZNF335, ZNF341, ZNF408, ZNF423, ZNF462, ZNF513, ZNF644, ZNF687, ZNF711, ZNFX1, ZSWIM6.
Здесь представлен не полный список исследуемых генов. Мы секвенируем и другие гены, которые входят в состав полного экзома.
Поиск предположительно наследственного заболевания с интерпретацией (необходима клиническая информация)
Поиск предположительно наследственного заболевания с интерпретацией (необходима клиническая информация)
Поиск предположительно наследственного заболевания с интерпретацией (необходима клиническая информация)
Полноэкзомное секвенирование «ТРИО» — с интерпретацией данных полученных по результатам секвенирования, для поиска предположительно наследственного заболевания. (Цена указана за 3 образца).
Скрининг на носительство рецессивных заболеваний с интерпретацией (для лиц 18+)
Скрининг на носительство рецессивных заболеваний с интерпретацией (для лиц 18+)
Скрининг на носительство рецессивных заболеваний с интерпретацией (для лиц 18+)
Обратитесь в наш контакт-центр для сдачи крови в любой лаборатории в своем городе
Пример заключения Ixome по результатам исследования экзома для поиска наследственного заболевания.