Prehľadávať katalóg:
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Informácie o vyšetrení
Ataxia-teleangiektázia
Gen: ATM_NGS -
Informácie o vyšetrení
Argininosukcínová acidúria
Gen: ASL_NGS -
Informácie o vyšetrení
Alfa-manozidóza
Gen: MAN2B1_NGS -
Informácie o vyšetrení
Alagillov syndróm, typ 2
Gen: NOTCH2_NGS -
Informácie o vyšetrení
Alagillov syndróm, typ 1
Gen: JAG1_NGS -
Informácie o vyšetrení
Anomálie plodu
Gen: AAAS, AARS2, ABCA12, ABCC6, ABCC9, ABHD5, ABL1, ACAD9, ACADVL, ACAN, ACBD6, ACE, ACOX1, ACP5, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACVR2B, ACVRL1, ACY1, ADAMTS10, ADAMTS15, ADAMTS17, ADAMTS3, ADAMTSL2, ADAR, ADCY6, ADD1, ADGRG1, ADGRG6, ADNP, ADSL, AFF3, AFF4, AFG2A, AGK, AGL, AGPS, AGTR1, AHCY, AHDC1, AHI1, AKT1, AKT2, AKT3, ALDH18A1, ALDH1A2, ALDH1A3, ALDH3A2, ALDH7A1, ALDOA, ALG1, ALG12, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX12B, ALOXE3, ALPK3, ALPL, ALX1, ALX3, ALX4, AMACR, AMER1, AMMECR1, AMOTL1, AMPD2, AMT, ANAPC1, ANGPT2, ANKH, ANKRD11, ANKS6, ANOS1, ANTXR1, ANTXR2, AP1S2, AP4B1, AP4E1, AP4S1, APC2, AR, ARCN1, ARFGEF2, ARHGAP29, ARHGAP31, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARL6, ARMC9, ARSA, ARSB, ARSL, ARX, ASAH1, ASCC1, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATAD1, ATAD3A, ATG7, ATIC, ATN1, ATP1A2, ATP5PO, ATP6V0A2, ATP7A, ATR, ATRX, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT7, B4GAT1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCL11A, BCOR, BCS1L, BFSP2, BGN, BHLHA9, BICD2, BIN1, BLM, BLTP1, BMP1, BMP2, BMP4, BMPER, BMPR1B, BNC2, BPNT2, BRAF, BRAT1, BRCA1, BRCA2, BRD4, BRIP1, BRPF1, BSND, BTD, BUB1B, C12orf57, C1QBP, C2CD3, C2orf69, CA2, CA8, CACNA1C, CACNA1E, CACNA1G, CACNA1S, CANT1, CASK, CASP2, CASR, CBL, CBY1, CC2D2A, CCBE1, CCDC22, CCDC39, CCDC40, CCDC8, CCDC88C, CCND2, CCNQ, CDAN1, CDC45, CDC6, CDH1, CDH2, CDH3, CDK10, CDK13, CDK5RAP2, CDK8, CDKL5, CDKN1C, CDON, CDT1, CDX2, CENPF, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP295, CEP41, CEP55, CEP57, CEP63, CEP83, CEP85L, CERS3, CERT1, CFAP45, CFAP52, CFAP53, CFAP298, CFAP300, CFAP410, CFAP418, CFC1, CFL2, CFTR, CIT, CILK1, CKAP2L, CLCN4, CLCN7, CLP1, CLPB, CLTC, CLXN, CNOT1, CNOT2, CNOT3, CNTNAP1, CNTNAP2, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COLEC10, COLEC11, COLQ, COQ4, COQ7, COQ9, COX7B, CPAP, CPLANE1, CPT2, CRADD, CRB2, CREB3L1, CREBBP, CRIPT, CRLF1, CRPPA, CRTAP, CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CSF1R, CSGALNACT1, CSNK2A1, CSPP1, CTC1, CTCF, CTNNA2, CTNNB1, CTNND1, CTSA, CTSD, CTSK, CTU2, CUL4B, CUL7, CWC27, CYBB, CYP11A1, CYP11B1, CYP17A1, CYP1B1, CYP21A2, CYP26B1, CYP2U1, CYP4F22, DAG1, DARS1, DARS2, DAW1, DCC, DCX, DDR2, DDRGK1, DDX11, DDX3X, DDX59, DENND5A, DEPDC5, DHCR24, DHCR7, DHFR, DHODH, DHX30, DCHS1, DIAPH1, DIS3L2, DISP1, DKC1, DLG5, DLL1, DLL3, DLL4, DLX5, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAAF11, DNAAF19, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB11, DNAL1, DNM1L, DNM2, DNMT3A, DNMT3B, DOCK6, DOK7, DOLK, DONSON, DPAGT1, DPF2, DPH1, DPM1, DPM2, DPM3, DPYSL5, DRG1, DSP, DSTYK, DVL1, DVL3, DYM, DYNC1H1, DYNC1I1, DYNC1I2, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DYRK1A, DZIP1L, EARS2, EBF3, EBP, ECEL1, EDNRA, EDNRB, EED, EEF2, EFEMP2, EFNB1, EFTUD2, EHBP1L1, EHMT1, ECHS1, EIF2AK3, EIF2B2, EIF2B3, EIF2S3, EIF4A3, EIF5A, ELAC2, ELN, ELOVL4, EMD, EMG1, EML1, EMX2, EN1, ENG, ENPP1, EOGT, EP300, EPG5, EPHB4, ERBB3, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERGIC1, ERI1, ESAM, ESCO2, ETFA, ETFB, ETFDH, EVC, EVC2, EXOC3L2, EXOC7, EXOSC3, EXT1, EXT2, EXTL3, EYA1, EZH2, FAH, FAM111A, FAM149B1, FAM20A, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAR1, FAS, FAT1, FAT4, FBLN5, FBN1, FBN2, FBRSL1, FBXL4, FGD1, FGF10, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FILIP1, FKBP10, FKBP14, FKRP, FKTN, FLNA, FLNB, FLNC, FLT4, FLVCR2, FN1, FOLR1, FOSL2, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXJ1, FOXP3, FOXP4, FOXRED1, FRA10AC1, FRAS1, FREM1, FREM2, FRMD4A, FTL, FTO, FUT8, FUZ, FYCO1, FZD2, G6PC3, GAA, GALC, GALE, GALK1, GALNS, GALNT2, GANAB, GATA1, GATA2, GATA3, GATA4, GATA6, GATB, GBA1, GBA2, GBE1, GCDH, GDF1, GDF11, GDF5, GDF6, GFAP, GFM1, GFPT1, GFRA1, GHR, GJA1, GJA3, GJA8, GJC2, GLA, GLB1, GLDC, GLDN, GLE1, GLI1, GLI2, GLI3, GLIS3, GLUL, GMNN, GMPPB, GNAI3, GNAO1, GNAS, GNB1, GNB2, GNPAT, GNPTAB, GNPTG, GNS, GON4L, GORAB, GPC3, GPC6, GPI, GPSM2, GPX4, GREB1L, GRHL3, GRIN1, GRIN2B, GRIP1, GRM7, GSC, GTF2H5, GTPBP2, GTPBP3, GUCY2C, GUSB, GZF1, H1-4, H3-3A, HAAO, HADHA, HADHB, HBA1, HBA2, HCCS, HCFC1, HDAC8, HECTD4, HES7, HESX1, HHAT, HIBCH, HIVEP2, HK1, HMGA2, HMX1, HNF1B, HNF4A, HNRNPH2, HNRNPK, HOXA1, HOXA13, HOXD13, HPSE2, HR, HRAS, HS2ST1, HSD17B3, HSD17B4, HSF4, HSPA9, HSPD1, HSPG2, HUWE1, HYAL2, HYCC1, HYLS1, CHAMP1, CHAT, CHD4, CHD7, CHKB, CHMP1A, CHRNA1, CHRNA3, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHSY1, CHUK, IARS1, IBA57, IDH1, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT74, IFT80, IFT81, IGF1, IGF1R, IGF2, IGHMBP2, IHH, IKBKG, IL11RA, IL1RAPL1, INPP5E, INPPL1, INSR, INTS1, INTS11, INTU, INVS, IQCB1, IRF6, IRX5, ITGA3, ITGA6, ITGA8, ITGB4, JAG1, JAM3, KANSL1, KAT6A, KAT6B, KATNB1, KCNC3, KCNJ1, KCNJ2, KCNK3, KCNK9, KCTD1, KDELR2, KDM2B, KDM5C, KDM6A, KIAA0586, KIAA0753, KIDINS220, KIF11, KIF14, KIF1A, KIFBP, KIF21A, KIF22, KIF24, KIF26A, KIF2A, KIF4A, KIF5B, KIF5C, KIF7, KLF1, KLHL40, KLHL41, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KNL1, KRAS, KRIT1, KYNU, L1CAM, L2HGDH, LAMA1, LAMA2, LAMA5, LAMB1, LAMB2, LAMC3, LARGE1, LARP7, LARS2, LBR, LFNG, LGI4, LHX3, LHX4, LIFR, LIG4, LIPA, LIPT2, LMBR1, LMBRD1, LMNA, LMNB1, LMNB2, LMOD3, LMX1B, LNPK, LONP1, LOX, LRP2, LRP4, LRP5, LRRC56, LTBP1, LTBP3, LTBP4, LYST, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MAF, MAFB, MAGEL2, MAN2C1, MAP2K1, MAP2K2, MAP3K1, MAP3K20, MAP3K7, MAP4K4, MAPKAPK5, MAPRE2, MASP1, MATN3, MAX, MBTPS2, MCIDAS, MCOLN1, MCPH1, MDFIC, MECOM, MED12, MED13L, MED25, MED27, MEF2C, MEGF10, MEGF8, MEIS2, MEOX1, MESD, MESP2, MFRP, MFSD2A, MGP, MICOS13, MID1, MINPP1, MKKS, MKS1, MLC1, MLYCD, MMADHC, MMACHC, MMP13, MMP21, MN1, MNX1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPLKIP, MRAS, MRPS22, MSL3, MSMO1, MSTO1, MSX1, MSX2, MTFMT, MTRFR, MTM1, MTO1, MTOR, MUSK, MYBBP1A, MYBPC1, MYCN, MYH10, MYH11, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYL1, MYL9, MYMK, MYO18B, MYO9A, MYOCD, MYOD1, MYPN, MYRF, MYT1, NAA10, NACC1, NADSYN1, NAGA, NALCN, NANS, NBAS, NBN, NDE1, NDP, NDUFA6, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFS1, NEB, NECTIN1, NECTIN4, NEDD4L, NEK1, NEK8, NEK9, NEU1, NF1, NFIA, NFIB, NFIX, NHEJ1, NHS, NIPAL4, NIPBL, NKX2-5, NKX3-2, NLRP3, NODAL, NOG, NONO, NOTCH1, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPR2, NR0B1, NR2F2, NR5A1, NRAS, NSD1, NSDHL, NSRP1, NSUN6, NUBPL, NUDT2, NUP107, NUP188, NXN, OBSL1, OCLN, OCRL, ODAD1, ODAD2, ODAD3, OFD1, OPHN1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTUD5, OTUD6B, OTX2, P3H1, P4HB, PACS1, PACS2, PAFAH1B1, PAK3, PALB2, PAN2, PAPSS2, PARN, PAX1, PAX2, PAX3, PAX6, PAX7, PAX8, PBX1, PC, PCDH12, PCGF2, PCNT, PCYT1A, PDCD10, PDE3A, PDE4D, PDGFRB, PDHA1, PDHB, PDHX, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHOX2B, PI4K2A, PIBF1, PIDD1, PIEZO1, PIEZO2, PIGA, PIGH, PIGL, PIGN, PIGO, PIGS, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIK3R2, PIP5K1C, PITX1, PITX2, PITX3, PKD1, PKD1L1, PKD2, PKDCC, PKHD1, PKLR, PLAG1, PLCB4, PLEC, PLG, PLK4, PLOD1, PLOD2, PLPBP, PLS3, PLXND1, PMM2, PNKP, PNPLA1, PNPLA8, POC1A, POGZ, POLE, POLG2, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, POR, PORCN, POU1F1, PPIB, PPIL1, PPP1CB, PPP2CA, PPP2R1A, PPP2R3C, PPP2R5D, PPP3CA, PQBP1, PRF1, PRG4, PRIM1, PRKACA, PRKACB, PRKAG2, PRKAR1A, PRKD1, PRMT7, PRR12, PRRX1, PRSS56, PRUNE1, PSAP, PSAT1, PSMF1, PSPH, PTDSS1, PTF1A, PTH1R, PTHLH, PTCH1, PTPN11, PTPN14, PTPN23, PTS, PUF60, PUM1, PXDN, PYCR1, PYGM, QRICH1, QRSL1, RAB11A, RAB18, RAB23, RAB33B, RAB34, RAB3GAP1, RAB3GAP2, RAC1, RAC3, RAD21, RAD50, RAD51, RAF1, RAI1, RAP1B, RAPSN, RARB, RARS2, RASA1, RAX, RBBP8, RBM10, RBM8A, RBP4, RBPJ, RECQL4, RELN, REN, RERE, RET, RFT1, RFWD3, RFX6, RIPK4, RIT1, RLIM, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, ROBO1, ROBO3, ROGDI, ROR2, RPGRIP1L, RPL10, RPL11, RPL13, RPL15, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS6KA3, RPS7, RRAGC, RRAS, RRAS2, RRM2B, RSPH4A, RSPH9, RSPO2, RSPRY1, RTEL1, RTTN, RUNX2, RYR1, RXYLT1, SALL1, SALL4, SAMD9, SAMHD1, SASS6, SATB2, SBDS, SC5D, SCAF4, SCARF2, SCLT1, SCN1A, SCN2A, SCN3A, SCN4A, SCN5A, SCO2, SCUBE3, SCYL2, SDCCAG8, SDR9C7, SEC23B, SEC24D, SEMA3A, SEPSECS, SERPINF1, SERPINH1, SETBP1, SETD1A, SETD2, SETD5, SF3B4, SGCG, SGPL1, SH3PXD2B, SHANK3, SHH, SHMT2, SHOC2, SHOX, SIK3, SIL1, SIN3A, SIX3, SIX5, SIX6, SKI, SKIC2, SKIC3, SLC10A7, SLC12A1, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC18A3, SLC20A1, SLC25A19, SLC25A20, SLC25A24, SLC25A38, SLC25A4, SLC25A46, SLC26A2, SLC26A3, SLC27A4, SLC29A3, SLC2A10, SLC33A1, SLC34A1, SLC35A2, SLC35C1, SLC35D1, SLC39A8, SLC4A10, SLC5A7, SLC6A9, SLX4, SMAD2, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCD1, SMARCE1, SMC1A, SMC3, SMG9, SMCHD1, SMN1, SMO, SMOC1, SMPD4, SMS, SNAP25, SNF8, SNORD118, SNRPB, SNX10, SNX14, SON, SOS1, SOS2, SOST, SOX10, SOX11, SOX17, SOX18, SOX2, SOX3, SOX6, SOX9, SP7, SPAG1, SPARC, SPECC1L, SPEG, SPEN, SPG11, SPINT2, SPRED1, SPTB, SRCAP, SRD5A2, SRD5A3, SRY, ST14, STAC3, STAG2, STAMBP, STAR, STIL, STRA6, STRADA, STT3A, SUCLG1, SUFU, SULT2B1, SUMF1, SUZ12, SYNE1, TAB2, TAF1, TAF8, TAFAZZIN, TALDO1, TAPT1, TBC1D20, TBC1D23, TBC1D24, TBC1D32, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TBX15, TBX18, TBX20, TBX3, TBX4, TBX5, TBX6, TCF12, TCF4, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TELO2, TENM3, TENT5A, TFAP2A, TFAP2B, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM1, THOC2, THOC6, THRA, THSD1, TINF2, TK2, TMCO1, TMEM107, TMEM138, TMEM165, TMEM216, TMEM218, TMEM231, TMEM237, TMEM260, TMEM38B, TMEM67, TMEM70, TMEM94, TMEM98, TMTC3, TMX2, TNNI2, TNNT1, TNNT3, TOE1, TOGARAM1, TONSL, TOP3A, TOR1A, TOR1AIP1, TP63, TP73, TPM2, TPM3, TRAF3IP1, TRAF7, TRAIP, TRAP1, TRAPPC12, TRAPPC9, TREX1, TRIM37, TRIM71, TRIP11, TRIP12, TRIP4, TRIT1, TRMT10A, TRPS1, TRPV4, TRPV6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHZ3, TTC21B, TTC7A, TTC8, TTN, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TWIST1, TWIST2, TXNDC15, TXNL4A, U2AF2, UBA1, UBA2, UBE2T, UBE3B, UBR1, UBR7, UFSP2, UMPS, UQCRFS1, UROS, USP14, USP18, USP9X, VAMP1, VEGFC, VIPAS39, VLDLR, VPS13B, VPS33B, VPS35L, VPS4A, VPS53, VRK1, VSX2, WASHC5, WBP11, WBP4, WDPCP, WDR19, WDR26, WDR35, WDR37, WDR4, WDR44, WDR62, WDR73, WDR81, WLS, WNT1, WNT10B, WNT5A, WNT7A, WNT7B, WRAP53, WT1, WWOX, XRCC4, XYLT1, XYLT2, YY1, ZBTB18, ZBTB20, ZC4H2, ZEB2, ZFP57, ZFX, ZIC1, ZIC2, ZIC3, ZMIZ1, ZMPSTE24, ZMYM2, ZMYND10, ZNF335, ZNF462, ZNF526, ZNF699, ZRSR2, ZSWIM6 -
Informácie o vyšetrení
Amelogenesis imperfecta
Gen: ACP4, AMBN, AMELX, CLDN16, CLDN19, CNNM4, COL17A1, DLX3, ENAM, FAM20A, FAM20C, FAM83H, GPR68, ITGB4, ITGB6, KLK4, LAMA3, LAMB3, LAMC2, LTBP3, MMP20, ODAPH, ORAI1, PEX1, PEX26, PEX6, PLXNB2, RELT, ROGDI, SLC10A7, SLC13A5, SLC24A4, SP6, STIM1, WDR72 -
Informácie o vyšetrení
Alportov syndróm, X-viazaná forma
Gen: COL4A5_NGS -
Informácie o vyšetrení
Alportov syndróm, AR forma
Gen: COL4A4_NGS -
Informácie o vyšetrení
Alportov syndróm, AR forma
Gen: COL4A3_NGS
Súhlas so zasielaním notifikácií
V prípade ak si prajete byť pravidelne informovaný o zmenách v KATALÓGU VYŠETRENÍ (týkajúcich sa Pridania, Odobratia alebo Úpravy v rámci ponuky), vyplňte prosím nasledovné polia: