Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu vyšetrení

  • Epidermolysis bullosa
    Gen: ATP2C1, CAST, CDSN, COL17A1, COL7A1, CSTA, DSG1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, SLC39A4, TGM5
    Informácie o vyšetrení
  • Ektodermálna dysplázia
    Gen: ANAPC1, ANTXR1, APCDD1, AXIN2, BCS1L, C3orf52, CDH3, CDSN, CTNND1, CTSC, DSG4, EDA, EDAR, EDARADD, EVC2, GJB6, GRHL2, HOXC13, HR, JUP, KRT14, KRT25, KRT74, KRT81, KRT85, KRT86, LEF1, LIPH, LPAR6, LRP6, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKB2, NFKBIA, PKP1, PORCN, PPP1R13L, PRKD1, RIPK4, RMRP, RSPO4, SNRPE, SREBF1, ST14, TP63, TSPEAR, WNT10A
    Informácie o vyšetrení
  • Dystónie a Parkinsonova choroba
    Gen: ABAT, ACBD6, ACER3, ACOX1, ACTB, ADAR, ADCY5, AFG3L2, ALDH18A1, ANO3, AP1S2, APTX, ARFGEF3, ARSA, ARX, ASL, ATAD1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B2, ATP5G3, ATP7B, BCAP31, BCS1L, C19orf12, C9orf3, CACNA1A, CACNA1G, CACNB4, CAMK4, CLCN1, CLN3, CLN5, CLPB, COASY, COX10, COX15, COX20, CP, CSF1R, CSTB, CYP27A1, DCAF17, DCC, DCTN1, DDC, DHDDS, DLAT, DLD, DNAJC12, DNAJC5, DNAJC6, ECHS1, EIF2AK2, FA2H, FBXO7, FITM2, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, FXN, GBA, GCDH, GFAP, GCH1, GJC2, GLB1, GLRA1, GLRB, GM2A, GNAL, GNAO1, GNB1, GRIN1, GRN, GTPBP2, HCFC1, HECW2, HEXA, HIBCH, HNRNPH1, HPCA, HPRT1, HSD17B10, HSPD1, HTRA2, CHCHD2, CHMP2B, IFIH1, IMPDH2, IRF2BPL, KCNA1, KCNMA1, KCNQ2, KCTD17, KIAA1161, KIF1C, KMT2B, L2HGDH, LRPPRC, LRRK2, LYST, MAPT, MARS2, MECP2, MECR, MED27, MRE11, MTFMT, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NGLY1, NKX2-1, NKX6-2, NPC1, NPC2, NUP54, NUS1, OPA3, PANK2, PARK7, PCCA, PCCB, PDE10A, PDE2A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PET100, PINK1, PLA2G6, PNKD, PNKP, PNPT1, POLG, POLR3A, PPP2R5D, PRKN, PRKRA, PRNP, PRRT2, PSAP, PSEN1, PTRHD1, PTS, QDPR, RAB39B, RHOBTB2, RNASEH2B, RNASEH2C, RNASET2, RNF216, SAMHD1, SCN1A, SCN8A, SERAC1, SETX, SGCE, SHQ1, SLC16A2, SLC18A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC30A9, SLC39A14, SLC6A3, SLC6A8, SNCA, SNORD118, SPATA5L1, SPG11, SPR, SQSTM1, STUB1, SUCLA2, SUOX, SURF1, SYNJ1, SYT1, TAF1, TARS2, TBC1D24, TBK1, TH, THAP1, TIMM8A, TMEM151A, TOR1A, TPK1, TREX1, TSPOAP1, TUBB4A, UBTF, VAC14, VAMP1, VAMP2, VCP, VPS13A, VPS13C, VPS13D, VPS16, VPS35, VPS41, VPS4A, WARS2, WDR45, WDR73, XPR1, YIF1B, YY1, ZNF526, ZSWIM6
    Informácie o vyšetrení
  • Renálne tubulopatie
    Gen: AGXT, AIRE, ALPL, AMMECR1, AP2S1, APRT, AQP2, ATP1A1, ATP6V0A4, ATP6V1B1, AVPR2, BCS1L, BSND, CA2, CACNA1D, CACNA1H, CACNA1S, CASR, CDC73, CLCN2, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM2, CPT2, CTNS, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP24A1, CYP27B1, CYP2R1, DMP1, DNAJB11, EGF, EGFR, EHHADH, ENPP1, FAH, FAM111A, FAM20A, FAM20C, FAN1, FGF23, FOXI1, FXYD2, GALNT3, GATA3, GATM, GLA, GNA11, GNAS, GRHPR, HNF1B, HNF4A, HOGA1, HPRT1, HSD11B2, HSD3B2, KCNA1, KCNJ1, KCNJ10, KCNJ16, KCNJ5, KLHL3, LCAT, MAGED2, MOCOS, MUT, NR3C1, NR3C2, OCRL, PCBD1, PHEX, PTH1R, REN, RMND1, RRAGD, RRM2B, SARS2, SCN4A, SCNN1A, SCNN1B, SCNN1G, SEC61A1, SLC12A1, SLC12A3, SLC1A1, SLC22A12, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC4A1, SLC4A4, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, STRADA, TRPM6, TRPM7, UMOD, VIPAS39, VPS33B, WDR72, WNK1, WNK4, XDH
    Informácie o vyšetrení
  • Bardetov-Biedlov syndróm
    Gen: ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, IFT172, IFT27, IFT74, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TTC8
    Informácie o vyšetrení
  • Autoinflamačné ochorenia
    Gen: ACP5, ADA2, ADAM17, ALPK1, APOA1, APOA2, APOC2, ARPC5, C2orf69, CARD14, CDC42, DNASE1L3, DPP9, ELANE, FGA, GSN, HAVCR2, IL1RN, IL36RN, IRAK4, JAK1, LACC1, LPIN2, LYZ, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OAS1, OSMR, OTULIN, PLCG2, POLA1, PSMB10, PSMB4, PSMB8, PSMB9, PSTPIP1, RBCK1, SH3BP2, SHARPIN, SLC29A3, STAT2, STAT4, TMEM173, TNFAIP3, TNFRSF1A, TTR, UBA1, USP18, WDR1, ZNFX1
    Informácie o vyšetrení
  • Ataxie
    Gen: AAAS, ABCB7, ABCD1, ABHD12, ACBD6, ACO2, ADCY5, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, AIMP1, ALAS2, ALDH18A1, ALDH3A2, ALDH5A1, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, ALS2, AMACR, AMPD2, AMT, ANG, ANO10, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARL13B, ARL3, ARL6IP1, ARMC9, ARSA, ARSI, ARX, ASL, ATAD3A, ATCAY, ATG7, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B2, ATP2B3, ATP2B4, ATP6AP1, ATP6V0A1, ATP6V0A2, ATP7B, ATP8A2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BBS1, BEAN1, BICD2, BRF1, BSCL2, BTD, C19orf12, C2CD3, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAD, CAMTA1, CAPN1, CASK, CBY1, CC2D2A, CCDC88C, CCT5, CENPF, CEP104, CEP120, CEP290, CEP41, CILK1, CLCN2, CLN5, CLN6, CLN8, CLP1, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ8A, COX20, CP, CPLANE1, CPT1C, CRB2, CRPPA, CSF1R, CSGALNACT1, CSPP1, CSTB, CTBP1, CTDP1, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DAGLA, DARS1, DARS2, DDB2, DDHD1, DDHD2, DDOST, DDX59, DHCR7, DHDDS, DHRSX, DKC1, DLAT, DLG4, DNAJC19, DNAJC3, DNAJC5, DNM2, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYSL5, DSTYK, EBF3, EDEM3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ENTPD1, EOGT, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, EVC, EVC2, EXOC3L2, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAM149B1, FARS2, FBXL4, FBXO7, FCSK, FDXR, FEM1C, FGF14, FIG4, FKRP, FKTN, FLRT1, FLVCR1, FOLR1, FRMD5, FUS, FUT8, FXN, G6PC3, GAD1, GALC, GALNT2, GALNT3, GAN, GARS1, GBA1, GBA2, GBE1, GCDH, GCLC, GCSH, GEMIN5, GFAP, GFPT1, GCH1, GJB1, GJC2, GLB1, GLDC, GLI3, GLRA1, GLRB, GLRX5, GLTP, GM2A, GMPPA, GMPPB, GNB1, GNE, GORAB, GOSR2, GPAA1, GPT2, GRID2, GRM1, GRN, HACE1, HEPACAM, HERC1, HEXA, HEXB, HMBS, HPRT1, HSD17B4, HSPD1, HTRA1, HYCC1, HYLS1, CHMP1A, CHST14, CHST3, CHST6, CHSY1, IBA57, IFIH1, IFRD1, IFT74, IGDCC3, INPP5E, INPP5K, INTS11, IRF2BPL, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNN2, KCNQ2, KIAA0586, KIAA0753, KIDINS220, KIF1A, KIF1C, KIF5A, KIF5C, KIF7, KLC2, KLC4, KY, L1CAM, L2HGDH, LAMA1, LARGE1, LARS2, LETM1, LFNG, LYST, MAG, MAGT1, MAN1B1, MAN2B1, MAPK8IP3, MARS1, MARS2, MFN2, MFSD8, MGAT2, MINPP1, MKS1, MLC1, MMACHC, MME, MOGS, MORC2, MPDU1, MPI, MRE11, MSTO1, MT-ATP6, MTCL1, MTFMT, MTPAP, MTRFR, MTRR, MTTP, MVK, NAA60, NARS2, NAXE, NDUFS7, NEU1, NFASC, NGLY1, NHLRC1, NIPA1, NKX2-1, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NPHP3, NPTX1, NT5C2, NUBPL, NUS1, OFD1, OGDHL, OPA1, OPA3, OPHN1, OPTN, PACS2, PANK2, PAX6, PCNA, PCYT2, PDE6D, PDHX, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PHYH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PIK3R5, PITRM1, PLA2G6, PLEKHG4, PLP1, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, PNPT1, POLG, POLH, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU4F1, PPT1, PRDM13, PRDX3, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTRH2, PUM1, RAB3A, RAB3GAP2, RARS2, REEP1, REEP2, RELN, RETREG1, RFC1, RFT1, RNASEH2B, RNASET2, RNF168, RNF170, RNF216, RNF220, ROBO3, RORA, RPGRIP1L, RRM2B, RTN2, RUBCN, RXYLT1, SACS, SAMD9L, SCLT1, SCN1A, SCN2A, SCN8A, SCYL1, SEC16A, SEC23B, SELENOI, SEPSECS, SERAC1, SETX, SIL1, SKOR1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC44A1, SLC52A2, SLC9A1, SLC9A6, SMPD1, SNAP25, SNX14, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STUB1, SUFU, SUN1, SUN2, SYNE1, SYNGAP1, SYT14, TANGO2, TARDBP, TBC1D23, TBCC, TBCE, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TFG, TGM6, TH, THG1L, TINF2, TMEM107, TMEM138, TMEM165, TMEM216, TMEM218, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TOGARAM1, TPP1, TRAPPC11, TRPC3, TRPV4, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTPA, TUBA1A, TUBA4A, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UBAP1, UBQLN2, UBTF, UCHL1, USP8, VAMP1, VAPB, VARS2, VCP, VLDLR, VMA12, VMA22, VPS13A, VPS13B, VPS13D, VPS37A, VPS41, VPS53, VRK1, WASHC5, WDR45, WDR48, WDR73, WDR81, WFS1, WWOX, XPA, XPC, XRCC1, XYLT1, XYLT2, ZFR, ZFYVE26, ZFYVE27, ZNF423, ZNF592, ZSWIM6
    Informácie o vyšetrení
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