Анализы ДНК в Украине
Все анализы/Полногеномные исследования NGS
Анализ временно не выполняется
Тестирование на моногенные заболевания - 4700 генов, покрыттие не менее 70х |
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При сдаче теста в городах кроме Киева - доплата 400 грн к заказу и срок + 2 дня.
Секвенирование клинического экзома - анализ, с помощью которого можно исследовать клинически значимые гены человека и получить информацию об их структуре и изменениях, являющихся причиной наследственных заболеваний. Технология секвенирования экзома позволяет протестировать на практически все известные моногенные заболевания - те болезни, которые вызваны мутацией в определенном гене.
Клинический экзом - совокупность всех кодирующих белки участков генов, для которых показана и описана связь с наследственными заболеваниями. Анализ клинического экзома является более выгодной альтернативой полному секвенированию генома.
Среднее покрытие целевых участков секвенирования в исследуемых генах составляет не менее 70. Это означает, что каждый исследуемый участок в среднем анализируется не менее 70 раз для избежания влияния технических ошибок чтения на результаты исследования.
Многие генетические заболевания сходны между собой по клиническим симптомам, хотя могут вызываться мутациями в совершенно разных генах. Другие заболевания, наоборот, обусловлены мутациями в одном и том же гене, но имеют разные симптомы. Некоторые болезни могут быть связаны как с мутациями в генах, так и с неблагоприятной окружающей средой. Все это существенно затрудняет постановку точного диагноза. Большинство генетических тестов при этом предлагают исследовать ограниченное количество генов и только в определенных участках. Это приводит к тому, что направление на анализ не дает результата, а диагноз остается неясным.
Преимуществом клинического секвенирования экзома является одновременное исследование 4700 генов на всем их протяжении. Это позволяет заменить дорогостоящие анализы каждого гена по отдельности. Проведение клинического секвенирования экзома резко увеличивает шансы определить обнаружение генетического заболевания в семье, что позволяет более точно определить прогноз для пациента и его родственников, а также провести коррекцию терапии.
В некоторых случаях для определения патогенности выявленных мутаций может потребоваться обследование родственников пациента
Анализ клинического экзома обеспечивает эффективную профилактику, терапию и реабилитацию больных. Ниже приведен случай из медицинской практики нашей лаборатории.
Пациент: | девочка, 11 лет |
Симптомы: | ожирение, легкое интеллектуальное недоразвитие, полидактилия кистей и стоп, миопия высокой степени, нефроптоз |
Предварительный диагноз: | синдром Барде-Бидля. |
Анамнез: | за 3 года до обследования у матери наступила беременность. Проводилось ультразвуковое исследование для выявления полидактилии как маркера заболевания. Данный признак не был обнаружен, беременность была пролонгирована. Родилась девочка с полидактилией кистей и стоп и формирующимися в настоящее время признаками синдрома Барде-Бидля. |
Исследование: | проведено экзомное секвенирование. Выявлена гомозиготная мутация c.1967T>C в гене BBS7. При обследовании родителей установлено гетерозиготное носительство мутации. |
Рекомендации: | в семье планируется пренатальная диагностика при наступлении последующих беременностей. |
A2M, A4GALT, A4GNT, AAAS, AADAC, AADACL2, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCA10, ABCA12, ABCA13, ABCA2, ABCA3, ABCA4, ABCA7, ABCB1, ABCB11, ABCB4, ABCB6, ABCB7, ABCC1, ABCC11, ABCC2, ABCC3, ABCC4, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABCG1, ABCG2, ABCG5, ABCG8, ABHD12, ABHD5, ABI3BP, ABO, ACACA, ACACB, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACAT2, ACBD5, ACBD6, ACCS, ACE, ACHE, ACLY, ACO2, ACOX1, ACP5, ACSF3, ACSL4, ACSL5, ACSM2B, ACSM3, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACTN3, ACTN4, ACVR1, ACVR1B, ACVR1C, ACVR2B, ACVRL1, ACY1, ADA, ADAM10, ADAM12, ADAM17, ADAM19, ADAM33, ADAM7, ADAM9, ADAMTS10, ADAMTS13, ADAMTS16, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL2, ADAMTSL3, ADAMTSL4, ADAR, ADARB1, ADC, ADCK3, ADCY10, ADCY3, ADCY5, ADCY6, ADCY9, ADCYAP1, ADD1, ADH1B, ADH1C, ADH4, ADH5, ADH7, ADIPOQ, ADIPOR1, ADK, ADM, ADNP, ADORA1, ADORA2A, ADORA3, ADRA1A, ADRA2A, ADRA2B, ADRA2C, ADRB1, ADRB2, ADRB3, ADRBK2, ADSL, ADTRP, AFF2, AFF3, AFG3L2, AFP, AGA, 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CA6, CA8, CABIN1, CABP4, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D1, CACNA2D3, CACNA2D4, CACNB2, CACNB4, CACNG2, CADM1, CALCA, CALCR, CALHM1, CALM1, CALM3, CALR, CALR3, CAMK4, CAMKK1, CAMKK2, CAMP, CAMTA1, CANT1, CAPN10, CAPN13, CAPN3, CARD14, CARD8, CARD9, CARTPT, CASC16, CASC5, CASK, CASP1, CASP10, CASP12, CASP2, CASP3, CASP5, CASP8, CASP9, CASQ2, CASR, CAST, CAT, CATSPER1, CATSPER2, CATSPER3, CATSPER4, CAV1, CAV3, CBFB, CBL, CBLB, CBR1, CBR3, CBS, CBX2, CBX4, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC14, CCDC170, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC50, CCDC8, CCDC88C, CCHCR1, CCK, CCKAR, CCKBR, CCL11, CCL13, CCL17, CCL2, CCL22, CCL26, CCL3L1, CCL4L1, CCL5, CCL7, CCM2, CCNA2, CCND1, CCR1, CCR2, CCR3, CCR5, CCR6, CCR7, CCRL2, CCT5, CD109, CD14, CD151, CD177, CD19, CD1A, CD1E, CD207, CD209, CD22, CD226, CD24, CD244, CD247, CD27, CD2AP, CD320, CD36, CD38, CD3D, CD3E, CD3EAP, CD3G, CD4, CD40, CD40LG, CD44, CD46, CD5, CD55, CD58, CD59, CD72, CD79A, CD79B, 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DCLRE1C, DCN, DCP1B, DCTD, DCTN1, DCX, DCXR, DDAH1, DDAH2, DDB2, DDC, DDOST, DDR1, DDR2, DDX11, DDX20, DDX25, DDX39B, DDX3Y, DDX5, DDX53, DDX58, DEAF1, DEC1 , DECR1, DEFB1, DEFB126, DEFB4A, DES, DFNA5, DFNB31, DFNB59, DGAT1, DGCR14, DGCR2, DGCR5, DGCR6, DGCR8, DGKD, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHH, DHODH, DHRS4L1, DHX16, DHX36, DHX37, DIABLO, DIAPH1, DIAPH2, DIAPH3, DICER1, DIO1, DIO2, DIP2A, DIP2B, DIP2C, DIRC2, DIS3L2, DISC1, DISP1, DKC1, DKK2, DKK3, DLAT, DLD, DLG3, DLG5, DLGAP2, DLGAP3, DLL1, DLL3, DLX3, DLX5, DLX6, DMBT1, DMC1, DMD, DMGDH, DMP1, DMPK, DMRT1, DMXL1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJA4, DNAJB2, DNAJB6, DNAJC19, DNAJC5, DNAJC6, DNAL1, DNASE1, DNASE1L3, DNASE2, DND1, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DNMT3B, DNMT3L, DOC2A, DOCK3, DOCK4, DOCK6, DOCK8, DOCK9, DOK7, DOLK, DPAGT1, DPM1, DPM3, DPP10, DPP6, DPY19L2, DPYD, DPYS, DPYSL2, DRD1, DRD2, DRD3, DRD4, DRD5, DROSHA, DRP2, DSC2, DSC3, DSCAM, DSCR8, DSG1, DSG2, DSG4, DSP, DSPP, DST, DTNA, DTNBP1, DUOX2, DUOXA2, DUSP23, DUX4, DXO, DYM, DYNC1H1, DYNC2H1, DYRK1A, DYSF, DYX1C1, DYX1C1-CCPG1, EARS2, EBAG9, EBP, ECE1, ECI1, ECM1, ECM2, ECSIT, EDA, EDA2R, EDAR, EDARADD, EDN1, EDN2, EDN3, EDNRA, EDNRB, EEF1B2, EEF2K, EFCAB5, EFEMP1, EFEMP2, EFHC1, EFHC2, EFNB1, EFR3A, EFTUD2, EGF, EGFR, EGLN1, EGR2, EGR3, EHD2, EHMT1, EHMT2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3H, EIF4E, EIF4G1, ELAC2, ELANE, ELAVL2, ELF4, ELK1, ELN, ELOVL4, ELP2, ELP4, EMC4, EMD, EME1, EMG1, EMX2, EN2, ENAM, ENG, ENO1, ENO3, ENPP1, ENSA, ENTPD1, EOMES, EP300, EPAS1, EPB41, EPB41L1, EPB42, EPC2, EPCAM, EPHA2, EPHA3, EPHA5, EPHA7, EPHB2, EPHB6, EPHX1, EPHX2, EPM2A, EPO, EPOR, EPX, ERAP1, ERAP2, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN2, ERMAP, ESAM, ESCO2, ESPN, ESR1, ESR2, ESRRB, ESRRG, ETFA, ETFB, ETFDH, ETHE1, ETNPPL, ETS1, EVC, EVC2, EVI5, EXO1, EXO5, EXOC4, EXOSC3, EXT1, EXT2, EXTL3, EYA1, EYA4, EYS, EZH2, F10, F11, F12, F13A1, F13B, F2, F2R, F2RL1, F3, F5, F7, F8, F9, FA2H, FAAH, FAAH2, FABP1, FABP2, FABP3, FABP4, FABP6, FABP7, FADD, FADS2, FAH, FAM120A, FAM126A, FAM134B, FAM161A, FAM205A, FAM20A, FAM20C, FAM58A, FAM83H, FAM8A1, FAM91A1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FARS2, FAS, FASLG, FASN, FASTKD2, FBLIM1, FBLN1, FBLN5, FBN1, FBN2, FBN3, FBP1, FBXL6, FBXO10, FBXO18, FBXO7, FBXW11, FBXW4, FBXW7, FCAR, FCER1A, FCER2, FCGR1A, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FCGRT, FCN2, FCN3, FCRL3, FDFT1, FECH, FEM1A, FEN1, FERMT1, FERMT3, FEV, FEZF2, FFAR1, FFAR4, FGA, FGB, FGD1, FGD3, FGD4, FGF1, FGF10, FGF14, FGF2, FGF20, FGF23, FGF3, FGF8, FGF9, FGFBP1, FGFR1, FGFR2, FGFR3, FGFR4, FGFRL1, FGG, FH, FHL1, FHL2, FIG4, FIGLA, FIP1L1, FKBP10, FKBP14, FKBP5, FKBP6, FKBPL, FKRP, FKTN, FLCN, FLG, FLNA, FLNB, FLNC, FLT1, FLT3, FLT4, FLVCR1, FLVCR2, FMN1, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMO6P, FMR1, FN1, FN3K, FOLH1, FOLR1, FOXA1, FOXA2, FOXA3, FOXC1, FOXC2, FOXD3, FOXE1, FOXE3, FOXF1, FOXF2, FOXG1, FOXH1, FOXI1, FOXL2, FOXN1, FOXP1, FOXP2, FOXP3, FOXRED1, FPGS, FPR1, FPR2, FRA10AC1, FRAS1, FREM1, FREM2, FREM3, FRG1, FRK, FRMD6, FRMD7, FRMPD4, FRY, FRZB, FSCB, FSCN2, FSHB, FSHR, FTCD, FTH1, FTHL17, FTL, FTO, FTSJ1, FUCA1, FURIN, FUS, FUT1, FUT2, FUT3, FUT6, FUT7, FUT8, FUZ, FXN, FXYD2, FXYD6, FYCO1, FZD1, FZD3, FZD4, FZD6, FZD9, G6PC, G6PC2, G6PC3, G6PD, GAA, GAB2, GABBR1, GABRA1, GABRA5, GABRA6, GABRB3, GABRD, GABRG1, GABRG2, GABRG3, GABRR2, GAD1, GAD2, GADD45B, GAK, GAL3ST3, GALC, GALE, GALK1, GALNS, GALNT12, GALNT18, GALNT2, GALNT3, GALNT9, GALNTL5, GALP, GALT, GAMT, GAN, GAP43, GARS, GAS1, GAS2L2, GAS6, GATA1, GATA2, GATA3, GATA4, GATA6, GATAD1, GATM, GBA, GBA3, GBE1, GBGT1, GC, GCDH, GCGR, GCH1, GCK, GCKR, GCLC, GCLM, GCM2, GCNT2, GCSH, GDAP1, GDF1, GDF15, GDF3, GDF5, GDF6, GDF9, GDI1, GDNF, GEMIN2, GEMIN4, GFAP, GFER, GFI1, GFI1B, GFM1, GFPT1, GFPT2, GFRA1, GGCX, GGH, GGT5, GH1, GH2, GHR, GHRH, GHRHR, GHRL, GHSR, GIF, GIGYF2, GIMAP8, GIP, GIPC3, GIPR, GIT1, GJA1, GJA3, GJA4, GJA5, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GJC3, GJD2, GK, GLA, GLB1, GLCCI1, GLDC, GLE1, GLI1, GLI2, GLI3, GLIS2, GLIS3, GLMN, GLO1, GLP1R, GLRA1, GLRB, GLRX5, GLS, GLTSCR1, GLUD1, GLUD2, GLUL, GLYCTK, GM2A, GMIP, GNA14, GNAI2, GNAQ, GNAS, GNAS-AS1, GNAT1, GNAT2, GNB1L, GNB3, GNB5, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOLGA3, GOLGA5, GON4L, GORAB, GOSR2, GOT1, GP1BA, GP1BB, GP2, GP6, GP9, GPAM, GPANK1, GPATCH8, GPBAR1, GPC3, GPC4, GPC6, GPD1, GPD1L, GPD2, GPHN, GPI, GPIHBP1, GPR1, GPR12, GPR139, GPR143, GPR179, GPR33, GPR55, GPR56, GPR68, GPR98, GPS1, GPSM2, GPT, GPX1, GPX4, GRB10, GREM1, GRHL2, GRHPR, GRIA3, GRID1, GRIK1, GRIK2, GRIK3, GRIK4, GRIN1, GRIN2A, GRIN2B, GRIN3A, GRIP1, GRK1, GRK4, GRK5, GRM1, GRM3, GRM5, GRM6, GRM7, GRM8, GRN, GRPR, GRXCR1, GSC, GSDMA, GSDMB, GSE1, GSK3B, GSN, GSPT1, GSPT2, GSR, GSS, GSTA1, GSTA2, GSTA3, GSTK1, GSTM1, GSTM3, GSTM4, GSTO1, GSTO2, GSTP1, GSTT1, GSTT2, GSTT2B, GSTZ1, GTDC2, GTF2E1, GTF2H1, GTF2H5, GTF2IRD1, GTF2IRD2, GUCA1A, GUCA1B, GUCY2C, GUCY2D, GUSB, GYG1, GYLTL1B, GYPA, GYPB, GYPC, GYPE, GYS1, GYS2, GZMB, H19, H2BFWT, H6PD, HABP2, HACE1, HADH, HADHA, HADHB, HAL, HAMP, HAND1, HAND2, HARS, HARS2, HAS1, HAVCR1, HAX1, HBA1, HBA2, HBB, HBD, HBE1, HBEGF, HBG1, HBG2, HBM, HBS1L, HBZ, HCCS, HCK, HCLS1, HCN1, HCN2, HCN4, HCP5, HCRT, HCRTR1, HCRTR2, HDAC4, HDAC8, HDAC9, HDC, HDLBP, HDX, HEATR2, HELQ, HEPACAM, HERC2, HES6, HES7, HESX1, HEXA, HEXB, HEY1, HFE, HFE2, HGD, HGF, HGSNAT, HHEX, HHIP, HIBCH, HIF1A, HIF1AN, HIGD2A, HIP1, HIST1H2AE, HIST3H3, HK1, HK2, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DPB1, HLA-DPB2, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-G, HLCS, HLX, HMBS, HMCN1, HMGA1, HMGA2, HMGCL, HMGCR, HMGCS2, HMHA1, HMOX1, HMOX2, HMSD, HMX1, HMX2, HNF1A, HNF1B, HNF4A, HNMT, HNRNPH3, HNRNPU, HOGA1, HOMER2, HOXA1, HOXA10, HOXA11, HOXA13, HOXA2, HOXA4, HOXB13, HOXB6, HOXD10, HOXD13, HOXD4, HP, HPD, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HR, HRAS, HRC, HRG, HRH2, HRH3, HS1BP3, HS6ST1, HSD11B1, HSD11B2, HSD17B1, HSD17B10, HSD17B2, HSD17B3, HSD17B4, HSD3B1, HSD3B2, HSD3B7, HSF4, HSFY1, HSN2, HSP90AA1, HSP90B1, HSPA1A, HSPA1B, HSPA1L, HSPA5, HSPA8, HSPA9, HSPB1, HSPB3, HSPB6, HSPB7, HSPB8, HSPD1, HSPG2, HTN3, HTR1A, HTR1B, HTR2A, HTR2B, HTR2C, HTR3A, HTR3B, HTR3C, HTR3E, HTR5A, HTR6, HTR7, HTRA1, HTRA2, HTT, HUS1B, HUWE1, HVCN1, HYAL1, HYDIN, HYLS1, HYMAI, IAPP, IBSP, ICAM1, ICAM4, ICAM5, ICK, ICOS, ID3, IDE, IDH1, IDH2, IDH3B, IDO1, IDS, IDUA, IER3IP1, IFI30, IFI44L, IFIH1, IFITM3, IFITM5, IFNA10, IFNA17, IFNA2, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IFNL3, IFRD1, IFT122, IFT140, IFT43, IFT80, IGBP1, IGF1, IGF1R, IGF2, IGF2R, IGFALS, IGFBP1, IGFBP3, IGFBP5, IGFBP7, IGHA1, IGHG2, IGHM, IGHMBP2, IGKV, IGLL1, IHH, IKBIP, IKBKAP, IKBKG, IL10, IL10RA, IL10RB, IL11RA, IL12A, IL12B, IL12RB1, IL12RB2, IL13, IL16, IL17A, IL17F, IL17RA, IL17RB, IL17REL, IL18, IL18R1, IL18RAP, IL19, IL1A, IL1B, IL1R1, IL1RAPL1, IL1RL1, IL1RN, IL2, IL20RA, IL20RB, IL21, IL21R, IL23R, IL2RA, IL2RG, IL3, IL31RA, IL36RN, IL4, IL4R, IL5, IL6, IL6R, IL7, IL7R, IL8, IL9, IL9R, ILDR1, ILK, IMMP2L, IMMT, IMPA2, IMPAD1, IMPDH1, IMPDH2, IMPG2, INF2, INHA, INMT, INPP4A, INS, INSIG1, INSIG2, INSL3, INSL6, INSR, INVS, IQCB1, IQGAP1, IQGAP2, IQGAP3, IQSEC2, IRAK1, IRAK3, IRAK4, IRF1, IRF2, IRF4, IRF5, IRF6, IRF7, IRF8, IRGM, IRS1, IRS2, IRS4, IRX4, IRX5, ISCU, ISL1, ISPD, ISYNA1, ITCH, ITGA11, ITGA2, ITGA2B, ITGA3, ITGA4, ITGA6, ITGA7, ITGA9, ITGAE, ITGAM, ITGB2, ITGB3, ITGB4, ITIH1, ITIH3, ITIH4, ITIH6, ITK, ITM2B, ITPA, ITPKC, ITPR1, ITPR3, ITSN2, IVD, IYD, JAG1, JAG2, JAK2, JAK3, JAM3, JMJD1C, JPH2, JPH3, JRK, JUN, JUP, KAL1, KALRN, KANK1, KANSL1, KARS, KAT6B, KATNAL2, KBTBD13, KCNA1, KCNA3, KCNA5, KCNAB2, KCNC3, KCND2, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4, KCNH2, KCNIP4, KCNJ1, KCNJ10, KCNJ11, KCNJ13, KCNJ15, KCNJ2, KCNJ3, KCNJ5, KCNJ6, KCNJ8, KCNJ9, KCNK18, KCNK6, KCNK9, KCNMA1, KCNMB1, KCNMB3, KCNN3, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KCNS1, KCNS3, KCNV2, KCTD13, KCTD7, KDM4C, KDM5A, KDM5C, KDM5D, KDM6A, KDM6B, KDR, KEL, KERA, KHDC3L, KHK, KIAA0100, KIAA0196, KIAA0226, KIAA0232, KIAA0319, KIAA0513, KIAA1033, KIAA1199, KIAA1279, KIAA1377, KIAA1432, KIAA1462, KIAA2022, KIF11, KIF17, KIF18A, KIF1A, KIF1B, KIF21A, KIF22, KIF5A, KIF5B, KIF6, KIF7, KIFAP3, KIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, KIR3DL2, KIRREL3, KISS1, KISS1R, KIT, KITLG, KL, KLB, KLF1, KLF10, KLF11, KLF5, KLF6, KLF7, KLHDC8B, KLHL10, KLHL3, KLHL7, KLHL9, KLK1, KLK12, KLK15, KLK3, KLK4, KLK7, KLKB1, KLRK1, KMT2C, KMT2D, KMT2E, KNG1, KPNA1, KRAS, KRIT1, KRT1, KRT10, KRT12, KRT13, KRT14, KRT16, KRT17, KRT18, KRT2, KRT3, KRT31, KRT37, KRT38, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT74, KRT75, KRT8, KRT81, KRT83, KRT85, KRT86, KRT9, KRTAP1-1, KYNU, L1CAM, L2HGDH, L3MBTL1, LAMA1, LAMA2, LAMA3, LAMA4, LAMA5, LAMB1, LAMB2, LAMB3, LAMC1, LAMC2, LAMC3, LAMP2, LAMTOR2, LARGE, LARS2, LBP, LBR, LCA5, LCAT, LCE3B, LCE3C, LCE5A, LCN10, LCT, LDB3, LDHA, LDHB, LDLR, LDLRAD4, LDLRAP1, LEFTY2, LEMD3, LEP, LEPR, LEPRE1, LEPREL1, LETM1, LFNG, LGALS13, LGALS2, LGALS3, LGI1, LHB, LHCGR, LHFPL5, LHX1, LHX3, LHX4, LHX8, LIAS, LIF, LIFR, LIG1, LIG3, LIG4, LILRA3, LIM2, LIMK1, LIN28A, LIN28B, LINS, LIPA, LIPC, LIPE, LIPG, LIPH, LIPI, LIPN, LITAF, LLGL1, LMAN1, LMBR1, LMBRD1, LMF1, LMNA, LMNB1, LMNB2, LMTK3, LMX1B, LNX2, loc344967, LOR, LOX, LOXHD1, LOXL1, LOXL2, LPA, LPAR1, LPAR6, LPIN1, LPIN2, LPIN3, LPL, LPP, LRAT, LRCH1, LRFN5, LRP1, LRP2, LRP4, LRP5, LRP6, LRP8, LRPAP1, LRPPRC, LRRC4, LRRC6, LRRC8A, LRRK2, LRSAM1, LRTOMT, LTA, LTBP1, LTBP2, LTBP3, LTBP4, LTC4S, LTF, LTK, LTN1, LUM, LY96, LYN, LYST, LYZ, LZTFL1, LZTS1, MACROD2, MAD1L1, MAD2L1, MADD, MAF, MAFB, MAGEE2, MAGEL2, MAGI2, MAGT1, MAK, MAMLD1, MAN1A2, MAN1B1, MAN2B1, MANBA, MAOA, MAOB, MAP2, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP3K1, MAP3K15, MAP4K5, MAP6, MAP7D3, MAPK10, MAPK8IP1, MAPT, MARS2, MARVELD2, MASP1, MASP2, MAST4, MASTL, MAT1A, MATN3, MATR3, MAVS, MAX, MBD1, MBD3, MBD4, MBD5, MBL2, MBTPS2, MC1R, MC2R, MC3R, MC4R, MCCC1, MCCC2, MCEE, MCF2L2, MCFD2, MCHR1, MCL1, MCM3AP, MCM4, MCM5, MCM6, MCOLN1, MCPH1, MDH1, MDM2, MDM4, MDN1, MECP2, MED12, MED13, MED13L, MED17, MED23, MED25, MEF2A, MEF2C, MEFV, MEGF10, MEGF11, MEIS1, MEIS2, MEN1, MEP1B, MERTK, MESDC2, MESP2, MEST, MET, MFF, MFGE8, MFI2, MFN2, MFRP, MFSD2A, MFSD8, MGAT1, MGAT2, MGAT4C, MGEA5, MGLL, MGMT, MGP, MGST2, MGST3, MIA3, MIAT, MICA, MICB, MID1, MIF, MIIP, MINPP1, MIP, MIPOL1, MIR106B, MIR124-1, MIR125A, MIR126, MIR140, MIR146A, MIR16-1, MIR17, MIR17HG, MIR182, MIR184, MIR191, MIR196A2, MIR206, MIR24-1, MIR27A, MIR2861, MIR30C1, MIR34B, MIR499A, MIR502, MIR510, MIR890, MIR892B, MIR934, MIR96, MIRLET7E, MITF, MKKS, MKL1, MKRN3, MKS1, MLC1, MLH1, MLH3, MLLT3, MLPH, MLXIPL, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMEL1, MMP1, MMP10, MMP12, MMP13, MMP14, MMP2, MMP20, MMP3, MMP7, MMP8, MMP9, MNX1, MOCOS, MOCS1, MOCS2, MOG, MOGS, MOK, MPDU1, MPDZ, MPG, MPHOSPH8, MPI, MPL, MPLKIP, MPO, MPP3, MPP4, MPP6, MPP7, MPST, MPV17, MPZ, MR1, MRAP, MRC1, MRE11A, MRPL3, MRPL48, MRPS16, MRPS22, MRRF, MS4A1, MS4A12, MS4A2, MS4A3, MS4A6A, MS4A6E, MSH2, MSH3, MSH4, MSH5, MSH6, MSMB, MSMO1, MSR1, MSRB3, MST1, MST1R, MSTN, MSX1, MSX2, MT1A, MT2A, MTAP, MTCH2, MTFMT, MTHFD1, MTHFD1L, MTHFR, MTHFS, MTM1, MTMR14, MTMR2, MTMR9, MTNR1A, MTNR1B, MTO1, MTPAP, MTR, MTRR, MTTP, MTUS1, MUC1, MUC13, MUC2, MUC3A, MUC4, MUC5B, MUC6, MUC7, MURC, MUSK, MUT, MUTYH, MVK, MX1, MYB, MYBL2, MYBPC1, MYBPC3, MYC, MYCL, MYCN, MYD88, MYF6, MYH11, MYH13, MYH14, MYH15, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYL2, MYL3, MYLIP, MYLK, MYLK2, MYO15A, MYO18B, MYO1A, MYO1C, MYO1E, MYO1F, MYO3A, MYO5A, MYO5B, MYO6, MYO7A, MYO7B, MYO9B, MYOC, MYOCD, MYOM1, MYOT, MYOZ2, MYPN, MYT1, MYT1L, NAA10, NAGA, NAGLU, NAGPA, NAGS, NAIP, NAMPT, NAPRT1, NARS2, NAT1, NAT2, NAT8L, NAV2, NBAS, NBEA, NBEAL2, NBN, NBPF1, NCALD, NCAM1, NCAN, NCAPD2, NCF1, NCF2, NCF4, NCKAP1, NCOA1, NCOA3, NCR3, NCS1, NCSTN, NDE1, NDN, NDOR1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB3, NDUFB6, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEBL, NEDD4L, NEDD9, NEFH, NEFL, NEFM, NEGR1, NEIL1, NEIL2, NEK1, NEK8, NELFA, NELL1, NEU1, NEU2, NEUROD1, NEUROG3, NEXN, NF1, NF2, NFATC4, NFE2L2, NFIA, NFIX, NFKB1, NFKBIA, NFKBIL1, NFU1, NGF, NGFR, NHEJ1, NHLRC1, NHP2, NHS, NID1, NINJ1, NIPA1, NIPAL4, NIPBL, NIPSNAP1, NIPSNAP3A, NKAIN2, NKX2-1, NKX2-3, NKX2-5, NKX2-6, NKX3-1, NKX3-2, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NLRP1, NLRP12, NLRP14, NLRP2, NLRP3, NLRP7, NLRX1, NMB, NME1, NME8, NMNAT1, NMT2, NMU, NOBOX, NOD1, NOD2, NODAL, NOG, NOP10, NOP56, NOS1, NOS1AP, NOS2, NOS3, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPAP1, NPAS2, NPAS3, NPAT, NPC1, NPC1L1, NPC2, NPFFR2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPL, NPM1, NPPA, NPPB, NPPC, NPR1, NPR2, NPR3, NPSR1, NPTN, NPY, NPY1R, NPY2R, NQO1, NQO2, NR0B1, NR0B2, NR1H2, NR1H3, NR1H4, NR1I2, NR1I3, NR2E1, NR2E3, NR2F1, NR3C1, NR3C2, NR4A2, NR5A1, NRAS, NRG1, NRG3, NRIP1, NRL, NRP2, NRTN, NRXN1, NRXN2, NRXN3, NSD1, NSDHL, NSMF, NSUN2, NSUN7, NT5C1B, NT5C3A, NT5E, NTF3, NTF4, NTHL1, NTNG1, NTRK1, NTRK2, NTRK3, NUAK1, NUBPL, NUDC, NUDT1, NUDT6, NUMBL, NUP155, NUP62, NXF3, NXF5, NXNL1, NYX, OAS1, OAS2, OAT, OAZ1, OBSCN, OBSL1, OCA2, OCLN, OCRL, ODC1, OFD1, OGG1, OLFM2, OLR1, OMG, OPA1, OPA3, OPCML, OPHN1, OPN1LW, OPN1MW, OPN1SW, OPN4, OPRD1, OPRK1, OPRL1, OPRM1, OPTC, OPTN, OR13G1, OR7D4, ORAI1, ORC1, ORC4, ORC6, ORMDL3, OSMR, OSR1, OSTM1, OTC, OTOA, OTOF, OTOR, OTX2, OVGP1, OXCT1, OXTR, P2RX1, P2RX4, P2RX5, P2RX7, P2RY11, P2RY12, P2RY4, PABPC4L, PABPN1, PACRG, PAFAH1B1, PAFAH1B3, PAH, PAK3, PAK7, PALB2, PALLD, PANK2, PAPD7, PAPSS2, PARD3B, PARD6A, PARK2, PARK7, PARL, PARP1, PARP2, PASK, PAWR, PAX1, PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8, PAX9, PC, PCBD1, PCCA, PCCB, PCDH11X, PCDH15, PCDH18, PCDH19, PCDH9, PCDHA10, PCDHA13, PCDHB4, PCK1, PCK2, PCM1, PCMT1, PCNT, PCOLCE, PCSK1, PCSK2, PCSK9, PDCD1, PDCD10, PDCD5, PDE10A, PDE11A, PDE4B, PDE4D, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDE7B, PDE8B, PDGFB, PDGFC, PDGFRA, PDHA1, PDHB, PDHX, PDLIM3, PDLIM5, PDP1, PDPK1, PDSS1, PDSS2, PDX1, PDXK, PDYN, PDZD7, PEAR1, PECAM1, PECR, PEMT, PENK, PEPD, PER1, PER2, PER3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFAS, PFKM, PFN1, PGAM1, PGAM2, PGAM5, PGBD1, PGC, PGD, PGK1, PGM1, PGR, PGRMC1, PHB, PHEX, PHF11, PHF2, PHF3, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHKG2, PHLDA2, PHLPP2, PHOX2A, PHOX2B, PHYH, PI3, PICALM, PICK1, PIEZO2, PIF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGR, PIGV, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R4, PIK3R5, PIKFYVE, PIN1, PINK1, PIP4K2A, PIP5K1B, PIP5K1C, PITPNM3, PITX1, PITX2, PITX3, PIWIL3, PKD1, PKD1L1, PKD2, PKHD1, PKLR, PKM, PKN3, PKP1, PKP2, PLA2G10, PLA2G2A, PLA2G2D, PLA2G4A, PLA2G4C, PLA2G5, PLA2G6, PLA2G7, PLAGL1, PLAT, PLAU, PLAUR, PLCB1, PLCB4, PLCD1, PLCE1, PLCG2, PLCZ1, PLD2, PLEC, PLEKHG4, PLEKHG5, PLEKHM1, PLG, PLIN1, PLIN4, PLN, PLOD1, PLOD2, PLOD3, PLP1, PLP2, PLTP, PLXND1, PMAIP1, PML, PMM2, PMP22, PMPCA, PMS1, PMS2, PMS2P3, PNKD, PNKP, PNMT, PNP, PNPLA1, PNPLA2, PNPLA3, PNPLA6, PNPO, POF1B, POGZ, POLB, POLD1, POLE2, POLG, POLG2, POLH, POLL, POLR1C, POLR1D, POLR2E, POLR2M, POLR3A, POLR3B, POLRMT, POMC, POMGNT1, POMP, POMT1, POMT2, PON1, PON2, PON3, POP1, POR, PORCN, POU1F1, POU3F4, POU4F3, POU5F1, POU5F1B, POU6F2, PPARA, PPARD, PPARG, PPARGC1A, PPARGC1B, PPAT, PPIA, PPIB, PPIG, PPM1D, PPOX, PPP1R1A, PPP1R3A, PPP1R3C, PPP2R1A, PPP2R1B, PPP2R2B, PPP2R2C, PPT1, PQBP1, PRB1, PRB3, PRB4, PRCD, PRCP, PRDM2, PRDM5, PRDM9, PREPL, PRF1, PRG4, PRICKLE1, PRICKLE2, PRKAA2, PRKACA, PRKAG2, PRKAG3, PRKAR1A, PRKCB, PRKCG, PRKCH, PRKCSH, PRKD3, PRKDC, PRKRA, PRL, PRLHR, PRLR, PRM1, PRM2, PRMT10, PRMT3, PRMT7, PRND, PRNP, PROC, PROCR, PRODH, PROK1, PROK2, PROKR1, PROKR2, PROM1, PROP1, PROS1, PROZ, PRPF3, PRPF31, PRPF6, PRPF8, PRPH, PRPH2, PRPS1, PRRC2A, PRRT2, PRRX1, PRSS1, PRSS12, PRSS2, PRSS3P2, PRSS56, PRSS8, PRX, PRY, PRY2, PSAP, PSAT1, PSCA, PSEN1, PSEN2, PSENEN, PSMA6, PSMB8, PSMB9, PSMC3IP, PSMD7, PSPH, PSPN, PSTPIP1, PTAFR, PTCD1, PTCH1, PTCH2, PTCHD1, PTCHD3, PTCSC3, PTEN, PTF1A, PTGDR, PTGDR2, PTGDS, PTGER2, PTGER4, PTGES2, PTGIR, PTGIS, PTGS1, PTGS2, PTH, PTH1R, PTHLH, PTK7, PTPN1, PTPN11, PTPN13, PTPN14, PTPN2, PTPN21, PTPN22, PTPN6, PTPRB, PTPRC, PTPRCAP, PTPRD, PTPRF, PTPRJ, PTPRK, PTPRO, PTPRQ, PTPRT, PTRF, PTS, PUS1, PVR, PVRL1, PVRL3, PVRL4, PVT1, PWRN1, PXDN, PYCR1, PYCRL, PYGL, PYGM, PYY, PZP, QDPR, QKI, RAB11FIP5, RAB18, RAB23, RAB27A, RAB28, RAB2A, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RAB7L1, RABGGTA, RABL6, RAC1, RAC2, RAD21, RAD21L1, RAD23B, RAD50, RAD51, RAD51C, RAD51D, RAD52, RAD54B, RAD54L, RAD9A, RAET1L, RAF1, RAG1, RAG2, RAI1, RALGAPA1, RALGDS, RANBP2, RANGRF, RAPSN, RARS2, RASA1, RASGRP2, RASSF1, RAX, RAX2, RB1, RB1CC1, RBBP8, RBFOX1, RBM10, RBM15, RBM20, RBM28, RBM8A, RBMXL2, RBMY1A1, RBP3, RBP4, RCAN1, RD3, RDH12, RDH5, RDX, RECQL4, REEP1, RELN, REN, REPS2, RET, RETN, REV3L, RFC2, RFT1, RFWD2, RFX2, RFX5, RFX6, RFX8, RFXANK, RFXAP, RGMA, RGR, RGS2, RGS6, RGS7, RGS9, RGS9BP, RHAG, RHBDF2, RHCE, RHD, RHO, RHOB, RHOG, RHPN2, RIMS1, RIMS3, RIN2, RIPK3, RIPK4, RLBP1, RMI1, RMRP, RNASE3, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RNASET2, RNF113A, RNF114, RNF135, RNF139, RNF168, RNF170, RNF213, RNLS, RNU4ATAC, ROBO1, ROBO2, ROBO3, ROCK1, ROCK2, ROGDI, ROM1, ROPN1L, ROR2, RORA, ROS1, RP1, RP1L1, RP2, RP9, RPA1, RPA4, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPH3AL, RPIA, RPL10, RPL11, RPL21, RPL35A, RPL36, RPL5, RPN2, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27A, RPS3, RPS4Y2, RPS6KA3, RPS6KB1, RPS6KL1, RPS7, RPTOR, RRH, RRM1, RRM2B, RRP1B, RS1, RSPH4A, RSPH9, RSPO1, RSPO4, RSRC1, RTN2, RTN4R, RUNX1, RUNX2, RUNX3, RUVBL1, RXFP2, RXRG, RYK, RYR1, RYR2, RYR3, S100A14, S100B, S1PR1, SAA1, SAA2, SACS, SAG, SAGE1, SALL1, SALL4, SAMD9, SAMHD1, SAR1B, SARDH, SARS2, SART1, SART3, SAT1, SATB2, SATL1, SBDS, SBF2, SBNO1, SC5DL, SCAP, SCARB1, SCARB2, SCARF2, SCG2, SCG3, SCGB1A1, SCGB1D2, SCGB3A2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SCRIB, SCT, SCUBE2, SDC3, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23A, SEC23B, SEC63, SECISBP2, SEL1L, SELE, SELL, SELP, SELPLG, SEMA3A, SEMA3E, SEMA4A, SEMA4C, SEMA4G, SEMA6D, SEMG1, SEP15, SEPN1, SEPP1, SEPSECS, SEPT12, SEPT9, SERPINA1, SERPINA10, SERPINA3, SERPINA6, SERPINA7, SERPINB11, SERPINB3, SERPINB5, SERPINB6, SERPINC1, SERPIND1, SERPINE1, SERPINF1, SERPINF2, SERPING1, SERPINH1, SERPINI1, SERPINI2, SERTAD1, SESN2, SETBP1, SETD2, SETD8, SETDB2, SETX, SEZ6, SEZ6L2, SF3B4, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SGCA, SGCB, SGCD, SGCE, SGCG, SGK1, SGK110, SGK223, SGSH, SH2B1, SH2B3, SH2D1A, SH3BP2, SH3GL1, SH3PXD2B, SH3TC2, SHANK2, SHANK3, SHBG, SHFM1, SHH, SHMT1, SHOC2, SHOX, SHROOM3, SHROOM4, SI, SIAE, SIGLEC12, SIGLEC14, SIGLEC16, SIGMAR1, SIL1, SIM1, SIPA1, SIRT1, SIRT3, SIRT5, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SKIV2L, SLBP, SLC10A1, SLC10A2, SLC11A1, SLC11A2, SLC12A1, SLC12A3, SLC12A6, SLC13A2, SLC14A1, SLC14A2, SLC15A1, SLC16A1, SLC16A12, SLC16A2, SLC16A3, SLC17A1, SLC17A3, SLC17A5, SLC17A8, SLC18A1, SLC19A1, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC20A2, SLC22A1, SLC22A11, SLC22A12, SLC22A14, SLC22A2, SLC22A3, SLC22A4, SLC22A5, SLC22A6, SLC22A9, SLC23A1, SLC24A1, SLC24A2, SLC24A5, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A39, SLC25A4, SLC26A1, SLC26A10, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A9, SLC27A4, SLC27A5, SLC28A1, SLC28A2, SLC28A3, SLC29A1, SLC29A2, SLC29A3, SLC29A4, SLC2A1, SLC2A10, SLC2A2, SLC2A4, SLC2A9, SLC30A10, SLC30A2, SLC30A5, SLC30A8, SLC31A1, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35C1, SLC35D1, SLC35G2, SLC36A2, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC40A1, SLC41A1, SLC44A2, SLC45A2, SLC46A1, SLC47A1, SLC47A2, SLC4A1, SLC4A10, SLC4A11, SLC4A3, SLC4A4, SLC52A1, SLC52A3, SLC5A1, SLC5A11, SLC5A2, SLC5A5, SLC5A7, SLC6A1, SLC6A11, SLC6A12, SLC6A13, SLC6A14, SLC6A18, SLC6A19, SLC6A2, SLC6A20, SLC6A3, SLC6A4, SLC6A5, SLC6A8, SLC7A1, SLC7A10, SLC7A2, SLC7A5, SLC7A7, SLC7A9, SLC8A1, SLC9A3R1, SLC9A6, SLC9A9, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1C1, SLCO2A1, SLCO2B1, SLFN5, SLIT3, SLITRK1, SLURP1, SLX4, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD7, SMAD9, SMARCA2, SMARCA4, SMARCAD1, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC1B, SMC3, SMG1, SMG6, SMN1, SMN2, SMNDC1, SMOC1, SMOC2, SMPD1, SMPX, SMS, SMUG1, SMYD3, SNAI2, SNAP29, SNAPC4, SNAPC5, SNCA, SNCAIP, SNCB, SNIP1, SNORD115-1, SNORD116-10, SNORD116-1, SNORD50A, SNRK, SNRNP200, SNRPN, SNTA1, SNTG2, SNURF, SNX10, SNX19, SNX3, SOBP, SOCS1, SOCS3, SOD1, SOD2, SOD3, SOGA3, SOHLH1, SORBS1, SORCS1, SORL1, SORT1, SOS1, SOST, SOX10, SOX17, SOX18, SOX2, SOX3, SOX5, SOX6, SOX8, SOX9, SP100, SP110, SP7, SP8, SPAG16, SPAG17, SPANXN5, SPAST, SPATA13, SPATA16, SPATA21, SPATA31C1, SPATA7, SPECC1L, SPG11, SPG20, SPG21, SPG7, SPI1, SPINK1, SPINK5, SPINT2, SPP1, SPR, SPRED1, SPRN, SPRR3, SPRY2, SPRY3, SPTA1, SPTAN1, SPTB, SPTBN2, SPTBN5, SPTLC1, SPTLC2, SQSTM1, SRC, SRCAP, SRD5A2, SRD5A3, SREBF1, SREBF2, SREK1, SRGAP2, SRGAP3, SRI, SRP72, SRPX, SRPX2, SRR, SRY, SSH1, SST, SSTR2, SSTR5, SSX7, ST14, ST3GAL3, ST3GAL5, ST5, ST7, ST8SIA2, STAR, STAT1, STAT3, STAT5B, STAT6, STEAP3, STEAP4, STH, STIL, STIM1, STK10, STK11, STK19, STK3, STK32A, STK33, STK39, STK4, STMN1, STOX1, STRA6, STRADA, STRC, STS, STX11, STX16, STX1A, STXBP1, STXBP2, STXBP5, SUCLA2, SUCLG1, SUFU, SULF1, SULT1A1, SULT1A3, SULT1C2, SULT1E1, SULT2A1, SULT2B1, SULT4A1, SUMF1, SUMO1, SUMO4, SUN2, SUOX, SUPT16H, SURF1, SUV420H1, SV2B, SYCP3, SYN1, SYN3, SYNE1, SYNE2, SYNGAP1, SYNGR1, SYNM, SYNPO, SYP, SYT11, SYT14, SYT2, SYTL3, SYTL5, T, TAAR6, TAAR9, TAB2, TAC3, TACO1, TACR3, TACSTD2, TAF1, TAF15, TAF1C, TAF1L, TAF2, TAF7L, TAL1, TALDO1, TAP1, TAP2, TAPBP, TARDBP, TAS1R1, TAS1R2, TAS1R3, TAS2R16, TAS2R19, TAS2R3, TAS2R38, TAS2R43, TAS2R46, TAS2R50, TAS2R9, TAT, TAZ, TBC1D1, TBC1D23, TBC1D24, TBC1D4, TBCE, TBK1, TBL1X, TBL1XR1, TBL1Y, TBP, TBX1, TBX10, TBX15, TBX19, TBX2, TBX20, TBX21, TBX22, TBX3, TBX4, TBX5, TBX6, TBXA2R, TBXAS1, TCAP, TCF21, TCF4, TCF7, TCF7L1, TCF7L2, TCIRG1, TCN1, TCN2, TCOF1, TCP1, TCTE1, TCTE3, TCTN1, TCTN2, TDGF1, TDO2, TDP1, TDRD7, TEAD1, TECR, TECTA, TEK, TEKT2, TENM4, TEP1, TERC, TERT, TET1, TEX14, TF, TFAM, TFAP2A, TFAP2B, TFB1M, TFCP2, TFF1, TFPI, TFR2, TFRC, TG, TGFB1, TGFB2, TGFB3, TGFBI, TGFBR1, TGFBR2, TGFBR3, TGFBRAP1, TGIF1, TGM1, TGM2, TGM5, TGM6, TH, THADA, THAP1, THBD, THBS1, THBS2, THBS4, THPO, THRA, THRB, THSD7A, TICAM1, TIMM44, TIMM8A, TIMP1, TIMP2, TIMP3, TINAG, TINF2, TIRAP, TJP2, TK2, TLK1, TLL1, TLR1, TLR10, TLR2, TLR3, TLR4, TLR5, TLR6, TLR7, TLR8, TLR9, TM4SF19, TMC1, TMC6, TMC8, TMCO1, TMEM114, TMEM126A, TMEM127, TMEM135, TMEM138, TMEM165, TMEM173, TMEM185A, TMEM187, TMEM2, TMEM216, TMEM237, TMEM39A, TMEM43, TMEM67, TMEM70, TMEM8A, TMEM9, TMIE, TMLHE, TMPO, TMPRSS11A, TMPRSS15, TMPRSS3, TMPRSS4, TMPRSS5, TMPRSS6, TNC, TNF, TNFAIP2, TNFAIP3, TNFRSF10A, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF1B, TNFRSF25, TNFRSF4, TNFSF10, TNFSF11, TNFSF13B, TNFSF14, TNFSF15, TNFSF4, TNFSF8, TNKS, TNNC1, TNNI2, TNNI3, TNNI3K, TNNT1, TNNT2, TNNT3, TNP1, TNR, TNS3, TNXB, TOMM40, TOP1MT, TOPBP1, TOPORS, TOR1A, TOX3, TP53, TP53AIP1, TP53BP1, TP53I3, TP53RK, TP63, TP73, TPCN2, TPH1, TPH2, TPI1, TPK1, TPM1, TPM2, TPM3, TPMT, TPO, TPP1, TPP2, TPRN, TPSB2, TPTE, TRAC, TRADD, TRAF3, TRAF3IP1, TRAF3IP2, TRAF6, TRAK2, TRAPPC10, TRAPPC2, TRAPPC9, TRB, TRBV9, TRDN, TREM2, TRERF1, TREX1, TRHR, TRIB1, TRIB3, TRIL, TRIM17, TRIM21, TRIM22, TRIM32, TRIM37, TRIM5, TRIO, TRIOBP, TRIP11, TRIP12, TRMT1, TRMU, TRD, TROAP, TROVE2, TRPA1, TRPC3, TRPC4, TRPC5, TRPC6, TRPM1, TRPM2, TRPM3, TRPM4, TRPM6, TRPM7, TRPS1, TRPV1, TRPV3, TRPV4, TRPV5, TRRAP, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSHZ1, TSLP, TSPAN12, TSPAN17, TSPAN7, TSPO, TSPYL1, TSSC4, TSSK2, TSSK3, TSSK4, TST, TTBK2, TTC19, TTC21B, TTC37, TTC8, TTI2, TTLL11, TTN, TTPA, TTR, TTTY13, TUBA1A, TUBA8, TUBB1, TUBB2B, TUBB3, TUBGCP4, TUBGCP5, TUBGCP6, TUFM, TULP1, TULP3, TUSC3, TWIST1, TWIST2, TXN2, TXNRD2, TYK2, TYMP, TYMS, TYR, TYROBP, TYRP1, UBA1, UBA3, UBAC2, UBD, UBE2A, UBE2B, UBE2I, UBE2NL, UBE3A, UBE3C, UBIAD1, UBN2, UBQLN2, UBR1, UBR3, UBR7, UCHL1, UCP1, UCP2, UCP3, UFD1L, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT2A1, UGT2A3, UGT2B10, UGT2B15, UGT2B17, UGT2B28, UGT2B7, UHRF1BP1, UIMC1, UMOD, UMPS, UNC119, UNC13D, UNC5C, UNC5CL, UNC80, UNC93A, UNC93B1, UNG, UNKL, UPB1, UPF3B, UPK3A, UQCRB, UQCRQ, UROC1, UROD, UROS, USB1, USF1, USH1C, USH1G, USH2A, USP15, USP24, USP26, USP46, USP7, USP9X, USP9Y, UTF1, UTRN, UTS2, UVSSA, VAMP7, VANGL1, VANGL2, VAPB, VAX1, VCAM1, VCAN, VCL, VCP, VCX3A, VCY, VDR, VEGFA, VHL, VIM, VIMP, VIP, VIPAS39, VIPR2, VKORC1, VLDLR, VMA21, VNN1, VPREB1, VPS13A, VPS13B, VPS33B, VPS35, VRK1, VSIG4, VSX1, VSX2, VTN, VWF, WAS, WASF3, WDFY3, WDFY4, WDPCP, WDR11, WDR13, WDR19, WDR35, WDR36, WDR4, WDR45, WDR45B, WDR62, WDR65, WDR72, WDR81, WFS1, WHSC1, WIPF1, WISP3, WNK1, WNK4, WNT10A, WNT10B, WNT3, WNT4, WNT5A, WNT5B, WNT7A, WRAP53, WRN, WT1, WT1-AS, WWC1, WWOX, XBP1, XDH, XIAP, XIST, XK, XKR4, XKRY, XPA, XPC, XPNPEP2, XPNPEP3, XRCC1, XRCC2, XRCC3, XRCC4, XRCC5, XRCC6, XYLT1, XYLT2, YAP1, YARS, YARS2, YBX2, YTHDF2, YWHAE, YY1, ZAN, ZAP70, ZBTB16, ZBTB18, ZBTB24, ZBTB40, ZBTB41, ZC3H14, ZC3H3, ZC3HAV1, ZCCHC12, ZCCHC13, ZCCHC8, ZDHHC15, ZDHHC8, ZDHHC9, ZEB1, ZEB2, ZFAT, ZFHX3, ZFHX4, ZFP36, ZFP36L1, ZFP57, ZFP90, ZFPM2, ZFY, ZFYVE26, ZFYVE27, ZHX3, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYND11, ZNF202, ZNF213, ZNF224, ZNF24, ZNF335, ZNF350, ZNF365, ZNF385B, ZNF41, ZNF469, ZNF480, ZNF507, ZNF513, ZNF526, ZNF592, ZNF627, ZNF644, ZNF674, ZNF711, ZNF750, ZNF75D, ZNF80, ZNF804A, ZNF81, ZNHIT6, ZNRF1, ZPBP, ZPBP2
Материал для исследования: Венозная кровь с ЭДТА 2 мл.
Подготовка к анализу: нет
Дни забора (приема) материала: по графику работы медицинского центра
Примечание: Необходимо иметь с собой направление и выписки/заключения от врачей
Есть два вида генетических болезней - хромосомные отклонения и моногенные болезни. Хромосомные видно обычно сразу, они не зависят от генетики родителей. Моногенные - в основном зависят от генетики родителей, и проявляются со временем. Ваш случай больше похож на моногенную болезнь.
Для полного обследования всей ДНК сейчас рекомендуется секвенирование полного генома. Но это очень дорого. Можно сделать клинический экзом обоим супругам. Если он ничего не покажет, доплатить до полного генома. Если будет найдена мутация у обоих супругов, то нужно будет обследовать эмбрион или плод именно на эту мутацию.
Что касается плода, то в любом случае нужно делать неинвазивный анализ на хромосомные аномалии с 9 недель беременности. Он рекомендуется абсолютно всем беременным.