Katalóg vyšetrení

Lekárska genetika
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  • Rettov syndróm a atypický Rettov syndróm
    Gen: ALDH5A1, ATP1A2, CDKL5, FOXG1, GABBR2, GABRG2, GRIN1, GRIN2A, IQSEC2, KCNB1, KCNQ2, MECP2, MEF2C, NTNG1, SCN8A, SMC1A, STXBP1, TCF4
    Informácie o vyšetrení
  • Ochorenia sietnice
    Gen: ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRV1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, AIRE, ALDH3A2, ALMS1, ALPK1, AMACR, ANTXR1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARR3, ARSG, ATAD3A, ATF6, ATG7, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, BORCS8, C19orf12, C1QTNF5, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP250, CEP290, CEP78, CERKL, CFAP20, CFAP410, CFAP418, CFH, CIB2, CISD2, CLCC1, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COQ2, COQ8B, CRB1, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CTNND1, CTSD, CWC27, CYP4V2, DCT, DHDDS, DHX38, DNAJC30, DNM1L, DRAM2, DYNC2H1, EFEMP1, ELOVL4, ERCC6, ERCC8, ESPN, EXOSC2, EYS, FAM161A, FDXR, FLVCR1, FRMD7, FZD4, GDF6, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, GZF1, HARS1, HCCS, HGSNAT, HK1, HMX1, CHM, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT74, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, INTS11, IQCB1, JAG1, KCNJ13, KCNV2, KIAA1549, KIF11, KIF5A, KIZ, KLC2, KLHL7, LAMA1, LAMP2, LCA5, LETM1, LIG3, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MAN2B1, MCOLN1, MECR, MED12, MERTK, MFF, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MPDZ, MSTO1, MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTRFR, MT-TH, MT-TK, MT-TL1, MTTP, MT-TP, MT-TS2, MVK, MYO7A, NBAS, NDP, NDUFS2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OTX2, P3H2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDSS1, PDXK, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX16, PEX2, PEX26, PEX5, PEX6, PEX7, PHYH, PLA2G5, PLK4, PLOD3, PNPLA6, POC1B, POMGNT1, POMT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PTCD3, PYGM, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD7, SCAPER, SDCCAG8, SGSH, SLC24A1, SLC37A3, SLC38A8, SLC44A1, SLC45A2, SLC52A2, SLC66A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, SPG7, SPTLC1, SRD5A3, SSBP1, STN1, STX3, SUMF1, TIMM8A, TIMP3, TINF2, TLCD3B, TMEM126A, TMEM216, TMEM218, TMEM231, TMEM237, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBAP1L, UFM1, UCHL1, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, ZFYVE26, ZNF408, ZNF423, ZNHIT3
    Informácie o vyšetrení
  • Defekty končatín
    Gen: ABL1, ACVR1, ADAMTS10, ADAMTS17, AFF4, AKT3, ANKRD11, ARHGAP31, ARID1A, ARID1B, ARL6, ARSL, ASXL1, ATR, B3GLCT, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BMP2, BMP4, BMPR1B, BRCA2, BRIP1, C2CD3, CACNA1C, CC2D2A, CCND2, CCNQ, CDH3, CDX2, CENPF, CHD4, CHD7, CEP120, CEP290, CEP41, CEP55, CHSY1, CIBAR1, CILK1, CKAP2L, COL2A1, CPLANE1, CREBBP, CYP26B1, DDX59, DHCR7, DHODH, DLL4, DLX5, DOCK6, DPF2, DVL1, DVL3, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EFNB1, EFTUD2, EIF4A3, EOGT, EP300, ERCC4, ESCO2, EVC, EVC2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBLN1, FBN1, FBXW11, FGD1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLVCR1, FRAS1, FREM2, FZD2, GDF5, GDF6, GJA1, GLI1, GLI2, GLI3, GNAS, GPC3, GRIP1, GSC, HDAC8, HEATR3, HNRNPK, HOXA13, HOXD13, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, IHH, INPP5E, IQCE, KCNH1, KCNN3, KIAA0586, KIAA0825, KIF7, KMT2A, KMT2D, KYNU, LBR, LMBR1, LMX1B, LRP4, LTBP1, LTBP3, LZTFL1, MAP3K20, MAPKAPK5, MAX, MBTPS2, MECOM, MEGF8, MGP, MKKS, MKS1, MYCN, NCAPG2, NECTIN1, NECTIN4, NEK1, NIPBL, NOG, NOTCH1, NSDHL, NXN, OFD1, ORC1, PALB2, PAX3, PCNT, PDE3A, PDE4D, PDE6D, PHF6, PIK3CA, PIK3R2, PITX1, POLR1A, PORCN, PRKACA, PRKACB, PRKAR1A, PRMT7, PTDSS1, PTHLH, PUF60, RAB23, RAB34, RAD21, RAD51, RAD51C, RBM10, RBM8A, RBPJ, RECQL4, ROR2, RPGRIP1L, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, SALL1, SALL4, SC5D, SCNM1, SCUBE3, SF3B4, SFRP4, SHOX, SLC26A2, SLX4, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMO, SMOC1, SOST, SOX9, SUFU, TBX15, TBX3, TBX4, TBX5, TCTN2, TCTN3, TFAP2A, TFAP2B, TGDS, TMEM107, TMEM216, TMEM231, TMEM237, TMEM67, TP63, TRAF3IP1, TRAPPC2, TRAF7, TRPS1, TRPV4, TTC21B, TTC8, TWIST1, TXNDC15, UBA2, UBE2T, UBE3B, USP9X, VPS35L, WBP11, WDPCP, WDR19, WDR35, WNT10B, WNT5A, WNT7A, XRCC2, ZIC3, ZRSR2, ZSWIM6
    Informácie o vyšetrení
  • RASopatie
    Gen: BMP2, ACTB, ACTG1, BRAF, CBL, CDC42, EPHB4, ERF, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAP4K4, MAPK1, MRAS, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRED2, STAMBP, SYNGAP1, TAB2
    Informácie o vyšetrení
  • Progéria a progeroidné syndrómy
    Gen: AGPAT2, ALDH18A1, ATP6V0A2, ATP6V1E1, B4GALT7, BANF1, BLM, BSCL2, CAV1, CAVIN1, COL3A1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBLN5, FBN1, GORAB, KCNJ6, LMNA, LTBP4, PDGFRB, PIK3R1, PLIN1, POLD1, POLR3A, PPARG, PSMB8, PYCR1, RECQL2, RECQL4, SLC25A24, TOP3A, SPRTN, ZMPSTE24
    Informácie o vyšetrení
  • Primárne imunodeficiencie
    Gen: ACD, ACP5, ADA, ADA2, ADAM17, ADAR, ADH5, AGR2, AICDA, AIRE, AK2, ALPI, ALPK1, ANKZF1, AP3B1, APOA1, APOA2, APOC2, ARF1, ARPC1B, ARPC5, ATM, ATP6AP1, B2M, BACH2, BCL10, BLM, BLNK, BLOC1S6, BTK, C17orf62, C1QA, C1QB, C1QC, C1R, C1S, C2, C2orf69, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CBLB, CCBE1, CCR2, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CDC42, CDCA7, CEBPE, CFD, CFH, CFI, CFP, CIB1, CIITA, CLPB, COL7A1, COPA, CORO1A, CR2, CREBBP, CSF2RA, CSF2RB, CSF3R, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, DBR1, DCLRE1C, DDX58, DEF6, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, DPP9, DSG1, DUT, EFL1, ELANE, ELF4, EP300, EPG5, ERCC6L2, ERG, EXTL3, F12, FADD, FAS, FASLG, FAT4, FERMT1, FERMT3, FGA, FCHO1, FNIP1, FOXN1, FOXP3, G6PC3, G6PD, GALE, GATA1, GATA2, GFI1, GINS1, GNAI2, GSN, GUCY2C, HAVCR2, HAX1, HEATR3, HELLS, HMOX1, HPS1, HPS4, HPS6, HSPA1L, HTRA2, HYOU1, CHD7, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7, IL7R, INO80, IRAK4, IRF1, IRF2BP2, IRF4, IRF7, IRF8, ISG15, ITGB2, ITCH, ITK, ITPR3, JAGN1, JAK1, JAK3, KARS, KDM6A, KMT2A, KMT2D, KRAS, LACC1, LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LYN, LYST, LYZ, MAGT1, MALT1, MAP3K14, MBD4, MCM4, MCTS1, MECOM, MEFV, MOGS, MPEG1, MPIG6B, MPL, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5B, MYSM1, NAF1, NBEAL2, NBN, NCF1, NCF2, NCF4, NCKAP1L, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOTCH3, NPC1, NRAS, NSMCE3, NUDCD3, OAS1, ORAI1, OSMR, OTULIN, PARN, PAX1, PEPD, PGM3, PI4KA, PIK3CD, PIK3CG, PIK3R1, PLCG2, PLG, PNP, POLA1, POLD1, POLE, POMP, POT1, PRF1, PRIM1, PRKCD, PRKDC, PSMB10, PSMB4, PSMB8, PSMB9, PSMD12, PSTPIP1, PTCRA, PTPN2, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, REL, RELA, RELB, RFX5, RFXANK, RFXAP, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RORC, RPSA, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SASH3, SBDS, SEC61A1, SERPINA1, SERPING1, SGPL1, SH2B3, SH2D1A, SH3BP2, SHARPIN, SKIV2L, SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC7A7, SLCO2A1, SMARCAL1, SMARCD2, SNORA31, SOCS1, SP110, SPI1, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT4, STAT5B, STAT6, STIM1, STK4, STX11, STXBP2, STXBP3, SYK, TAP1, TAP2, TAPBP, TAZ, TBCE, TBK1, TBX1, TBXAS1, TCF3, TCN2, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THPO, TICAM1, TLR3, TLR7, TLR8, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF12, TOP2B, TP63, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TTC37, TTC7A, TTR, TYK2, UBA1, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, XIAP, ZAP70, ZBTB24, ZNF341, ZNFX1
    Informácie o vyšetrení
  • Primárna ciliárna dyskinéza
    Gen: AGR2, ARMC4, C11orf70, C21orf59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP43, CFAP53, DAW1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAH7, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, EFCAB1, FOXJ1, GAS2L2, GAS8, HYDIN, LRRC6, MCIDAS, NEK10, OFD1, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TP73, TTC12, TTC25, TUBB4B, ZMYND10
    Informácie o vyšetrení
  • Predčasné ovariálne zlyhanie
    Gen: AARS2, BMP15, C14orf39, CCDC155, CLPP, CYP17A1, CYP19A1, EIF2B1, EIF2B2, EIF2B4, EIF2B5, FANCM, FIGLA, FOXL2, FSHB, FSHR, GALT, GDF9, GGPS1, HARS2, HFM1, HSD17B4, LARS2, LHCGR, LHX8, MCM8, MCM9, MRPS22, MSH4, NOBOX, NOTCH2, NR5A1, PMM2, POLG, PRDM9, SOHLH1, STAG3, SYCE1, TP63, TWNK
    Informácie o vyšetrení
  • Poruchy pohlavného vývoja
    Gen: AMH, AMHR2, AR, ARX, ATRX, CDKN1C, CPE, CTU2, CUL4B, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR7, DHH, DHX37, GATA4, HOXA13, HSD17B3, HSD3B2, CHD7, IGF2, LHCGR, LHX3, MAMLD1, MAP3K1, MKRN3, MYRF, NR0B1, NR2F2, NR3C1, NR5A1, PBX1, POR, PPP1R12A, PPP2R3C, RPL10, RSPO1, SAMD9, SGPL1, SOX10, SOX9, SRD5A2, SRY, STAR, TOE1, TSPYL1, WT1
    Informácie o vyšetrení
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