Katalóg vyšetrení

Lekárska genetika
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  • Všetky

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  • 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
  • Krabbeho choroba
    Gen: GALC
    Informácie o vyšetrení
  • Krabbeho choroba
    Gen: GALC_MLPA
    Informácie o vyšetrení
  • Kniestova dysplázia
    Gen: COL2A1
    Informácie o vyšetrení
  • Kniestova dysplázia
    Gen: COL2A1_MLPA
    Informácie o vyšetrení
  • Klippelov-Trénaunayov syndróm
    Gen: PIK3CA
    Informácie o vyšetrení
  • Klippelov-Trénaunayov syndróm
    Gen: AKT1
    Informácie o vyšetrení
  • Klippelov-Trénaunayov syndróm
    Gen: AGGF1
    Informácie o vyšetrení
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