Prehľadávať katalóg:
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Informácie o vyšetrení
Leukodystrofie a leukoencefalopatie
Gen: AARS1, AARS2, ABAT, ABCD1, ABHD16A, ACBD5, ACER3, ACOX1, ACP5, ADAR, AIFM1, AIMP1, ALDH3A2, AP1S2, AP4B1, APOPT1, APP, ARSA, ASPA, AUH, B3GALNT2, BCAP31, BCS1L, BLOC1S1, BOLA3, C2orf69, CIC, CLCN2, CLDN11, CLDN5, CLPP, CNTNAP1, COA7, COL4A1, COL4A2, COLGALT1, COQ2, COQ8A, COX10, COX15, COX6B1, CSF1R, CTC1, CTSA, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS, DARS2, DCAF17, DDB2, DEGS1, DGUOK, DMXL2, DPYD, EARS2, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, ENTPD1, EPRS, ERCC6, ERCC8, ESAM, ETFDH, FA2H, FAM126A, FARSA, FIG4, FLVCR2, FOLR1, FUCA1, GALC, GALNT2, GBE1, GCDH, GFAP, GFM1, GJA1, GJB1, GJC2, GLA, GLB1, GLRX5, GPRC5B, GSN, HEPACAM, HEXA, HIKESHI, HMBS, HPDL, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, ISCA1, ISCA2, ITM2B, JAM3, KARS1, KIAA1161, KIF5A, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, LRPPRC, LYRM7, MARS2, MCCC1, MCOLN1, MEF2C, MLC1, MPLKIP, MPV17, MRPS22, MTFMT, MTHFR, MTR, NAA60, NADK2, NAXD, NAXE, NDUFA2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NFU1, NKX6-2, NOTCH1, NOTCH3, NUBPL, NUP188, OCLN, PAFAH1B1, PAH, PDGFB, PDGFRB, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PI4KA, PLP1, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, PPFIBP1, PPP1R21, PRNP, PSAP, PSEN1, PTEN, PYCR2, RAB11B, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RNF220, RPIA, RRM2B, SAMHD1, SCAF4, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SLC13A3, SLC16A2, SLC17A5, SLC20A2, SLC25A12, SLC25A4, SNORD118, SOX10, SPART, SPG11, SPG21, SPG7, STN1, SUCLA2, SUMF1, SURF1, TACO1, TMEM106B, TMEM163, TMEM63A, TREM2, TREX1, TTR, TUBB4A, TUFM, TWNK, TYMP, TYROBP, UFM1, USP18, VPS11, WARS, WARS2, XPA, XPC, XPR1, ZFYVE26 -
Informácie o vyšetrení
Kraniosynostóza
Gen: ACTB, ACTG1, ADAMTSL4, AHDC1, ALPL, ALX4, ARID1B, ARSB, ASXL1, B3GAT3, BCL11B, BRAF, CDC45, CDK13, CHD7, COLEC11, CTSK, CYP26B1, EFNB1, ERF, FAM20C, FBN1, FBXO11, FGF9, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GNAS, GNPTAB, HNRNPK, HUWE1, IDS, IDUA, IFT122, IFT140, IHH, IL11RA, IL6ST, JAG1, KAT6A, KAT6B, KMT2D, KRAS, LTBP1, MAN2B1, MEGF8, MSX2, NFIA, NFIX, P4HB, PHEX, POR, PRRX1, PTCH1, PTPN11, RAB23, RECQL4, RSPRY1, RUNX2, SIX1, SKI, SLC25A24, SMAD6, SMO, SOX6, SPECC1L, STAT3, TCF12, TFAP2B, TGFBR1, TGFBR2, TLK2, TMCO1, TRAF7, TWIST1, WDR35, ZEB2, ZIC1, ZNF462 -
Informácie o vyšetrení
Kongenitálne myastenické syndrómy
Gen: AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LRP4, MUSK, MYO9A, PLEC, PURA, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SYT2, TOR1AIP1, VAMP1 -
Informácie o vyšetrení
Poruchy sluchu
Gen: ABHD12, ACOX1, ACTG1, ADGRV1, AFG2A, AFG2B, AIFM1, ALMS1, AMMECR1, AP1B1, AP1S1, ARSG, ATP11A, ATP1A3, ATP2B2, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BRAF, BSND, BTD, CABP2, CACNA1D, CCDC50, CDC14A, CDH23, CDK5RAP2, CEACAM16, CEP250, CEP78, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRLS1, CRYM, DAP3, DCAF17, DHRSX, DIAPH1, DIAPH3, DMXL2, DNAJC3, DNMT1, DSPP, EDN3, EDNRB, EFTUD2, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FDXR, FGF3, FITM2, FOXC1, FOXI1, FOXI3, GATA3, GDF6, GGPS1, GIPC3, GJB2, GJB3, GJB6, GPR156, GPSM2, GREB1L, GRHL2, GRXCR1, GRXCR2, GSC, GSDME, HAAO, HARS1, HARS2, HGF, HOMER2, HOXA2, HSD17B4, CHD7, CHSY1, IGF1, ILDR1, KARS1, KCNE1, KCNJ10, KCNJ16, KCNQ1, KCNQ4, KIT, KITLG, KMT2D, LARS2, LETM1, LHFPL5, LHX3, LMX1A, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MASP1, MGP, MIR96, MITF, MN1, MORC2, MPZL2, MSRB3, MT-CO1, MT-RNR1, MT-TK, MT-TL1, MT-TS1, MT-TS2, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDRG1, NLRP3, NLRP12, NOG, NR2F1, OGDHL, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX1, PAX2, PAX3, PBX1, PCDH15, PDSS1, PDZD7, PEX1, PEX11B, PEX12, PEX13, PEX6, PEX7, PHYH, PISD, PJVK, PKHD1L1, PLOD3, PLS1, PLXNB2, PNPT1, POLD1, POLR1C, POLR1D, POU3F4, POU4F3, PRORP, PRPS1, PSMC3, PTPN11, PTPRQ, RAI1, RDX, RFC4, RFT1, RIPOR2, RNF220, S1PR2, SALL1, SALL4, SERAC1, SERPINB6, SGPL1, SIX1, SLC12A2, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC33A1, SLC4A11, SLC52A2, SLC52A3, SLITRK6, SMPX, SOX10, SOX2, SPNS2, SPTBN4, STAG2, STRC, SUCLA2, SUCLG1, SYNE4, TBC1D24, TCOF1, TECTA, TIMM8A, TMC1, TMEM132E, TMEM43, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSHZ1, TSPEAR, TUBB4B, TWNK, TXNL4A, USH1C, USH1G, USH2A, USP48, VPS33B, WFS1, WHRN, XYLT2, YAP1, YARS1, ZSCAN10 -
Informácie o vyšetrení
Komplexný kardiologický panel
Gen: AARS2, ABCC8, ABCC9, ABL1, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, ACVR1, ACVR2B, ACVRL1, ADAMTS10, ADAMTS17, ADAMTS19, ADAMTS2, ADAMTS6, ADAMTSL4, AEBP1, AFF4, AGK, AGL, ALDH18A1, ALDH1A2, ALMS1, ALPK3, AMOTL1, ANKRD11, ARID1A, ARID1B, ARIH1, ARSB, ASPH, ATAD3A, ATP13A3, ATP5F1D, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BAG3, BAG5, BCOR, BGN, BMP2, BMPR2, BRAF, C10orf71, C1QBP, C1R, C1S, CACNA1C, CALM1, CALM2, CALM3, CAMK2D, CAP2, CASQ2, CASZ1, CBL, CBS, CCDC22, CDH2, CDK13, CFAP53, CFC1, CITED2, COA5, COA6, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, COQ4, COQ9, COX10, COX15, COX20, CPT2, CREBBP, CSRP3, CTNNB1, CTNND1, CUL3, DES, DLG4, DLG5, DLL4, DMD, DNAH11, DNAH5, DNAH9, DNAJC19, DNM1L, DOCK6, DOHH, DOLK, DSC2, DSE, DSG2, DSP, EFEMP1, EFEMP2, EFTUD2, EHMT1, EIF2AK4, EIF3A, EIF3B, ELAC2, ELN, EMD, EMILIN1, ENG, EP300, EPG5, ESCO2, EVC, EVC2, EYA4, FAH, FBLN5, FBN1, FBN2, FHL1, FHOD3, FKBP14, FKRP, FKTN, FLCN, FLII, FLNA, FLNC, FLT4, FNIP1, FXN, GAA, GATA4, GATA6, GDF1, GDF2, GLA, GLB1, GLI3, GLRA1, GNB5, GTPBP3, GUSB, GYG1, HAAO, HADHA, HADHB, HAMP, HCN4, HDAC8, HFE, HJV, HNRNPK, HRAS, HSD17B10, HSPA9, HYAL2, CHD4, CHD7, CHST14, IDH2, IDS, IDUA, IFT74, IGF2, INVS, IPO8, JAG1, JPH2, JUP, KANSL1, KCNE1, KCNH2, KCNJ2, KCNK3, KCNMA1, KCNQ1, KCTD10, KDM2B, KDR, KLHL24, KRAS, KYNU, LAMP2, LDB3, LETM1, LMNA, LMOD2, LOX, LRPPRC, LTBP1, LTBP3, LTBP4, LZTR1, MAP2K1, MAP2K2, MAP3K7, MAP4K4, MAPK1, MAPKAPK5, MAT2A, MED12, MED16, MEIS2, MFAP5, MIPEP, MLYCD, MMP21, MMUT, MRAS, MRPL44, MRPS22, MT-ND5, MT-TI, MT-TL1, MT-TV, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYLK3, MYPN, MYZAP, NAA15, NADSYN1, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF5, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEXN, NF1, NKX2-5, NKX2-6, NODAL, NONO, NOTCH1, NOTCH2, NPR3, NR2F2, NRAP, NRAS, NUBPL, NUP188, PAN2, PCCA, PCCB, PCGF2, PDGFRB, PGM1, PHOX2B, PIGL, PKD1L1, PKP2, PLD1, PLN, PLOD1, PLOD3, PLXND1, PMEPA1, PMM2, PNPLA2, POLR1A, POPDC2, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRDM5, PRKACA, PRKACB, PRKAG2, PRKD1, PRKG1, PTDSS1, PTPN11, PYCR1, RAF1, RBCK1, RBFOX2, RBM20, RERE, RIN2, RIT1, RNF220, ROBO1, RPL3L, RPS6KB1, RRAGC, RRAGD, RREB1, RYR2, RYR3, SARS2, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SECISBP2, SEMA3A, SGCD, SHMT2, SHOC2, SKI, SLC22A5, SLC25A20, SLC25A4, SLC2A10, SLC37A4, SLC39A13, SLC40A1, SLC4A3, SMAD2, SMAD3, SMAD4, SMAD5, SMAD6, SMAD9, SMARCC1, SMC3, SMG9, SMO, SMPD4, SON, SOS1, SOS2, SOX17, SPEG, SPEN, SPRED2, STK4, STRA6, SURF1, TAB2, TAF1A, TAFAZZIN, TBX1, TBX20, TBX3, TBX4, TBX5, TCAP, TECRL, TFAP2B, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR2, THOC6, THSD4, TLL1, TMEM126B, TMEM260, TMEM43, TMEM70, TMEM94, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TOR1AIP1, TPM1, TRAF7, TRDN, TRIM63, TSFM, TSPYL1, TTC25, TTN, TTR, TULP3, TXNL4A, UBR1, UBR7, UGGT1, UQCRFS1, VCL, WASHC5, WBP11, WLS, ZEB2, ZIC3, ZMYM2, ZMYND10, ZMYND8, ZNF469, ZNF699 -
Informácie o vyšetrení
Katarakta
Gen: ABHD12, ADAMTS10, ADAMTS17, ADAMTS18, AGK, AGPS, ALDH18A1, ANAPC1, ATAD3A, B3GLCT, BCOR, BFSP1, BFSP2, CDK9, COG4, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CYP27A1, CYP51A1, DHCR7, DNMBP, EIF2B2, EPG5, EPHA2, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FAR1, FOSL2, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GEMIN4, GFER, GJA3, GJA8, GNPAT, GTF2H5, HMX1, HSF4, HTRA2, HYCC1, CHMP4B, INPP5K, INTS1, JAM3, LCAT, LEMD2, LETM1, LIM2, LONP1, LSS, MAF, MAN2B1, MED27, MIP, MIR184, MSMO1, MYH9, NACC1, NDP, NF2, NHS, NUP188, OAT, OCRL, OPA3, P3H2, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIK3C2A, PITX3, PLOD3, POLG, PXDN, RAB18, RAB3GAP1, RAB3GAP2, SC5D, SIL1, SIPA1L3, SLC16A12, SLC2A1, SLC33A1, SRD5A3, SREBF1, TBC1D20, TDRD7, TFAP2A, TKFC, VIM, VPS4A, VSX2, WFS1, WRN, XYLT2, ZNF526 -
Informácie o vyšetrení
Kardiomyopatie
Gen: AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ARSB, ATAD3A, ATP5F1D, BAG3, BAG5, BRAF, C10orf71, C1QBP, CACNA1C, CALM1, CALM2, CALM3, CAMK2D, CAP2, CASQ2, CASZ1, CBL, CDH2, COA5, COA6, COQ4, COQ9, COX10, COX15, COX20, CPT2, CSRP3, DES, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSG2, DSP, ELAC2, EMD, EPG5, EYA4, FAH, FHL1, FHOD3, FKRP, FKTN, FLII, FLNC, FNIP1, GAA, GLA, GLB1, GTPBP3, GUSB, GYG1, HADHA, HADHB, HAMP, HCN4, HFE, HJV, HRAS, HSD17B10, IDH2, IDS, IDUA, JPH2, JUP, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LETM1, LMNA, LMOD2, LRPPRC, LZTR1, MAP2K1, MAP2K2, MAP3K7, MIPEP, MLYCD, MMUT, MRAS, MRPL44, MRPS22, MT-ND5, MT-TI, MT-TL1, MT-TV, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYLK3, MYPN, MYZAP, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF5, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEXN, NF1, NKX2-5, NONO, NRAP, NRAS, NUBPL, PCCA, PCCB, PGM1, PKP2, PLD1, PLN, PMM2, PNPLA2, POPDC2, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PTPN11, RAF1, RBCK1, RBM20, RIT1, RNF220, RPL3L, RPS6KB1, RRAGC, RRAGD, RYR2, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SGCD, SHMT2, SHOC2, SLC22A5, SLC25A20, SLC25A4, SLC40A1, SLC4A3, SOS1, SOS2, SPEG, SPRED2, SURF1, TAB2, TAF1A, TAFAZZIN, TBX20, TBX5, TCAP, TECRL, TFR2, TMEM126B, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TSFM, TTN, TTR, TULP3, UQCRFS1, VCL -
Informácie o vyšetrení
Ichtyózy
Gen: AAGAB, ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ASPRV1, CARD14, CAST, CDSN, CERS3, CLDN1, CSTA, CYP4F22, DSC2, DSG1, DSP, ELOVL1, ENPP1, ERCC2, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2E2, JUP, KDSR, KRT1, KRT10, KRT14, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT9, LORICRIN, NIPAL4, PERP, NSDHL, PIGL, PNPLA1, POMP, RHBDF2, RSPO1, SDR9C7, SERPINB7, SERPINB8, SLC27A4, SLURP1, SNAP29, SPINK5, SREBF1, ST14, STS, SULT2B1, SUMF1, TAT, TGM1, TGM5, TRPV3, VPS33B -
Informácie o vyšetrení
Hypogonadotropný hypogonadizmus
Gen: ANOS1, ARHGAP35, CUL4B, DCAF17, FEZF1, FGF8, FGFR1, FSHB, GLI2, GNRH1, GNRHR, HAMP, HFE, CHD7, IL17RD, KISS1R, KLB, LEP, LEPR, LHB, LHX4, NDNF, NR0B1, PLXNA3, PROK2, PROKR2, PROP1, SEMA3F, SLC29A3, SLC40A1, SOX10, SOX11, SOX2, TAC3, TACR3, TFR2, WDR11
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: