Prehľadávať katalóg:
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Informácie o vyšetrení
Nefrotický syndróm
Gen: ACTN4, AMN, APOE, ARHGDIA, AVIL, CD151, CFH, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DAAM2, DGKE, DLC1, FAN1, FAT1, FN1, GLA, GON7, INF2, ITGA3, ITSN1, LAGE3, LAMB2, LCAT, LMX1B, MAGI2, MMACHC, MYH9, MYO1E, NOS1AP, NPHS1, NPHS2, NUP107, NUP133, NUP85, NUP93, OCRL, OSGEP, PAX2, PDSS2, PLCE1, PODXL, PRDM15, SCARB2, SGPL1, SMARCAL1, TBC1D8B, TNS2, TP53RK, TPRKB, TRIM8, TRPC6, WDR4, WDR73, WT1, YRDC -
Informácie o vyšetrení
Kongenitálna myotónia a periodické paralýzy
Gen: ATP2A1, CACNA1S, CLCN1, HINT1, HSPG2, KCNA1, KCNJ2, MT-ATP6, MT-ATP8, PYGM, RYR1, SCN4A -
Informácie o vyšetrení
Myopatie a svalové dystrofie
Gen: ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ACTG2, ACTN2, ADSS1, AGK, AGL, AHCY, AIFM1, ALDOA, AMPD1, ANO5, ANXA11, ASCC1, ASCC3, ATP2A1, B3GALNT2, B4GAT1, BAG3, BET1, BICD2, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CNTN1, COL12A1, COL13A1, COL25A1, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, COQ8A, COX6A2, CPT2, CRYAB, DAG1, DES, DGUOK, DHX16, DMD, DNA2, DNAJB4, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, FAM111B, FASTKD2, FDX2, FHL1, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GBE1, GFER, GFPT1, GGPS1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HINT1, HMGCR, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB8, HSPG2, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRNE, CHST14, INPP5K, ISCU, CRPPA, ITGA7, JAG2, KBTBD13, KCNA1, KLHL40, KLHL41, KY, LAMA2, LAMP2, LARGE1, LIMS2, LDB3, LDHA, LETM1, LMNA, LMOD3, LPIN1, LRIF1, MADD, MAGEL2, MAP3K20, MATR3, MB, MEGF10, MGME1, MICU1, MLIP, MPDU1, MSTN, MSTO1, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOD1, MYOT, MYPN, NALCN, NDUFAF5, NEB, NEFL, NKX2-1, OPA1, ORAI1, PABPN1, PAX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIEZO2, PLEC, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PRKAG2, PUS1, PYGM, PYROXD1, RBCK1, RMND1, RRM2B, RYR1, RYR3, SCN4A, SCO2, SELENON, SEPTIN9, SGCA, SGCB, SGCD, SGCG, SIL1, SLC22A5, SLC25A20, SLC25A4, SLC25A42, SLC4A10, SMCHD1, SMPX, SPEG, SPTBN4, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SVIL, SYNE1, SYNE2, TAMM41, TANGO2, TAFAZZIN, TBCK, TCAP, TIA1, TK2, TMEM126B, TMEM43, RXYLT1, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRDN, TRIM32, TRIP4, TSFM, TTN, TWNK, TYMP, UNC45B, UNC80, VCP, VMA21, VPS13A, VWA1, YARS2, ZC4H2 -
Informácie o vyšetrení
Mikrocefália a pontocerebelárna hypoplázia
Gen: AARS1, ACBD6, ADARB1, ADGRG1, AFG2A, AFG2B, AMPD2, ANKLE2, AP4E1, ARF3, ARFGEF2, ARPC4, ASPM, ATAD3A, ATP1A2, ATP6V0A1, ATP6V0C, ATR, ATRX, B3GALNT2, B4GAT1, BLM, BLTP1, BPTF, BRAT1, BRCA2, BRIP1, BUB1, BUB1B, CACNA1G, CAMK2B, CAMSAP1, CASK, CCND2, CDK5RAP2, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP55, CEP57, CHAMP1, CHKA, CHMP1A, CIT, CKAP2L, CLP1, COASY, CREBBP, CRPPA, CSNK2A1, CTCF, CTNNA2, CTNNB1, CTU2, CWF19L1, DDX11, DHCR7, DIAPH1, DKC1, DNA2, DNMT3A, DOHH, DONSON, DPM1, DPP6, DROSHA, DYNC1I2, DYRK1A, EFTUD2, EIF2S3, EIF5A, ERCC4, ERCC6, ERCC8, EXOSC3, EXOSC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBRSL1, FKRP, FKTN, FOXG1, FRA10AC1, GINS3, GMNN, GMPPB, GON7, GPT2, GRM7, GTF2E2, H4C3, HDAC8, HHAT, HMGB1, HPDL, IARS1, IER3IP1, IGF1, IGF1R, INTS11, ITPR1, KCNC3, KCNJ6, KIF11, KIF14, KIF2A, KIFBP, KMT2B, KNL1, LAGE3, LARGE1, LARP7, LIG4, LMNB1, LMNB2, MACF1, MCPH1, MECP2, METTL5, MFSD2A, MINPP1, MORC2, MSMO1, MYCN, NALCN, NAPB, NARS1, NBN, NCAPD2, NCAPD3, NDE1, NHEJ1, NIPBL, NSD2, NSRP1, NUP107, NUP188, NUP214, OPHN1, ORC1, ORC4, ORC6, OSGEP, PCDH12, PCNT, PDHA1, PI4KA, PLK4, PNKP, POC1A, POGZ, POLE, POMGNT1, POMGNT2, POMT1, POMT2, PPFIBP1, PPIL1, PQBP1, PRDM13, PRIM1, PRUNE1, PTF1A, PTPN23, PUF60, PUS7, RAB18, RAB3GAP1, RAD21, RAD50, RAD51, RARS2, RBBP8, RELN, RNF113A, ROBO3, RPL10, RTTN, RXYLT1, SARS1, SASS6, SEPSECS, SLC1A4, SLC25A19, SLC25A46, SLC38A3, SLC9A6, SLF2, SLX4, SMARCA5, SMC1A, SMC3, SMC5, SMG8, SMPD4, SNX14, SOX11, SPTBN2, STAMBP, STIL, SVBP, TBC1D20, TBC1D23, TBCD, TINF2, TMX2, TNPO2, TOE1, TOP3A, TP53RK, TRAIP, TRAPPC10, TRAPPC12, TRAPPC6B, TRAPPC9, TRIO, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TTC5, TTI1, TUBA1A, TUBB2B, TUBB3, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, UBA5, UBE3B, UFC1, UFM1, UGP2, UNC80, VLDLR, VRK1, WDR11, WDR37, WDR4, WDR62, WDR73, WDR81, WLS, XRCC4, YIPF5, ZEB2, ZNF335, ZNF526 -
Informácie o vyšetrení
Poruchy intelektu
Gen: AAAS, AARS1, AASS, ABAT, ABCA2, ABCC9, ABCD1, ABCD4, ABHD16A, ABHD5, ACACA, ACAD9, ACADM, ACADS, ACBD6, ACER3, ACO2, ACOX1, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACY1, ADAM22, ADAR, ADARB1, ADAT3, ADD1, ADD3, ADGRG1, ADGRL1, ADK, ADNP, ADSL, AFF2, AFF3, AFF4, AGA, AFG2A, AFG2B, AGO1, AGO2, AGTPBP1, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALMS1, AMER1, AMPD2, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANO4, AP1G1, AP1S1, AP1S2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, ARCN1, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSB, ARSL, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATG7, ATIC, ATM, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATP9A, ATR, ATRX, ATXN7L3, AUH, AUTS2, B3GALNT2, B3GLCT, B4GALNT1, B4GALT7, B9D1, B9D2, BAP1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BICRA, BLM, BLOC1S1, BLTP1, BMP4, BOLA3, BORCS8, BPTF, BRAF, BRAT1, BRD4, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BTD, BUB1, BUB1B, C12orf57, C2CD3, C2orf69, CA2, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1I, CACNA2D1, CAD, CAMK2A, CAMK2B, CAMK2D, CAMK4, CAMSAP1, CAMTA1, CAPN15, CAPRIN1, CARS1, CASK, CASP2, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC22, CCDC32, CCDC47, CCDC82, CCDC88A, CCDC88C, CCND2, CDC42, CDC6, CDH11, CDH2, CDK10, CDK13, CDK16, CDK19, CDK5RAP2, CDK8, CDKL5, CDON, CELF2, CENPF, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP55, CEP57, CEP83, CEP85L, CERT1, CHASERR, CIAO1, CIC, CIT, CKAP2L, CLCN3, CLCN4, CLCN6, CLDN11, CLDN5, CLEC16A, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLTC, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNOT9, CNTNAP1, CNTNAP2, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL4A1, COL4A2, COLEC11, COPB2, COQ4, COQ8A, COX10, COX11, COX15, CPAP, CPE, CPLANE1, CPLX1, CPS1, CRADD, CRB2, CREBBP, CRELD1, CRPPA, CSDE1, CSNK1G1, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTCF, CTDP1, CTNNA2, CTNNB1, CTNND1, CTR9, CTSA, CTSD, CTU2, CUL3, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYC1, CYFIP2, D2HGDH, DAG1, DAGLA, DARS1, DARS2, DBT, DCAF17, DCPS, DCX, DDB1, DDC, DDHD2, DDX11, DDX17, DDX23, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DENND5B, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHRSX, DHTKD1, DHX30, DHX37, DHX9, DCHS1, DIAPH1, DIS3L2, DKC1, DLD, DLG3, DLG4, DLL1, DMD, DMXL2, DNAJC12, DNAJC19, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK3, DOCK4, DOCK6, DOCK7, DOHH, DOLK, DPAGT1, DPF2, DPH1, DPH5, DPM1, DPM2, DPYD, DPYS, DPYSL5, DTYMK, DYM, DYNC1H1, DYRK1A, EARS2, EBF3, EBP, EDEM3, EED, EEF1A2, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2S3, EIF3F, EIF4A2, EIF4A3, EIF5A, ELAC2, ELOVL4, ELP2, EMC1, EMC10, EML1, EMX2, ENTPD1, EP300, EPG5, ERBB4, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ERI1, ERLIN2, ESAM, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXT2, EXTL3, EZH1, EZH2, FAM177A1, FAM20C, FAM50A, FAR1, FARS2, FARSA, FAT4, FBRSL1, FBXL3, FBXL4, FBXO11, FBXO28, FBXO31, FBXW11, FBXW7, FCSK, FEM1B, FERRY3, FGD1, FGF12, FH, FIBP, FIG4, FILIP1, FKRP, FKTN, FLVCR2, FMN2, FMR1, FOLR1, FOSL2, FOXG1, FOXP1, FOXP2, FOXRED1, FRA10AC1, FRMD5, FRMPD4, FTCD, FTSJ1, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALE, GALNT2, GALT, GAMT, GAN, GATAD2B, GATM, GCDH, GCSH, GDI1, GEMIN4, GEMIN5, GFAP, GFER, GFM1, GCH1, GJC2, GK, GLB1, GLDC, GLI2, GLIS3, GLRA2, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAI1, GNAI2, GNAO1, GNAS, GNB1, GNB2, GNB5, GNPAT, GNPTAB, GNPTG, GNS, GPAA1, GPC3, GPC4, GPT2, GRIA1, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GTF2E2, GTF2H5, GTF3C5, GTPBP2, GTPBP3, GUSB, H1-4, H3-3A, H3-3B, H4C3, H4C5, HACE1, HADHA, HCCS, HCFC1, HCN1, HDAC3, HDAC4, HDAC8, HECTD4, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HID1, HIVEP2, HK1, HLCS, HMGB1, HMGCL, HNMT, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, HUWE1, HYCC1, CHAMP1, CHD2, CHD3, CHD4, CHD5, CHD7, CHD8, CHKA, CHKB, CHMP1A, IARS1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IL1RAPL1, IMPDH2, INPP5E, INPP5K, INTS1, INTS11, IQSEC2, IREB2, IRF2BPL, IRX5, ITPA, ITPR1, ITSN1, IVD, JAM3, JARID2, KANSL1, KARS1, KAT5, KAT6A, KAT6B, KAT8, KCNA2, KCNA3, KCNB1, KCNB2, KCNC1, KCND2, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNJ6, KCNK3, KCNK9, KCNMA1, KCNN2, KCNN3, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM1A, KDM2B, KDM3B, KDM4B, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0586, KIDINS220, KIF11, KIF14, KIF1A, KIFBP, KIF21B, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIRREL3, KLF7, KLHL20, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LARS1, LETM1, LGI3, LHX2, LIAS, LIG4, LINGO4, LINS1, LIPT1, LMBRD2, LMNB1, LONP1, LRP2, LRPPRC, LRRC7, LSS, LYRM7, LZTR1, MAB21L1, MAB21L2, MACF1, MADD, MAF, MAGEL2, MAN1B1, MAN2B1, MAN2C1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK8IP3, MAPKAPK5, MAPRE2, MARK2, MASP1, MAST1, MAST3, MAST4, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCM3AP, MCOLN1, MCPH1, MDH2, MECP2, MED11, MED12, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEIS2, METTL23, METTL5, MFF, MFSD2A, MFSD8, MGAT2, MICU1, MID1, MINPP1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMADHC, MMACHC, MN1, MOCS1, MOCS2, MOGS, MORC2, MPDU1, MPLKIP, MRPS22, MRPS34, MSL2, MSL3, MSMO1, MTFMT, MTHFR, MTHFS, MTO1, MTOR, MTR, MTRR, MTRFR, MTSS2, MMUT, MVK, MYCN, MYH10, MYO5A, MYT1L, NAA10, NAA15, NACC1, NAGA, NAGLU, NALCN, NANS, NAPB, NARS1, NBEA, NCDN, NCKAP1, NDE1, NDP, NDST1, NDUFA1, NDUFA2, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEMF, NEU1, NEUROD2, NEUROG1, NEXMIF, NF1, NFASC, NFIA, NFIX, NFU1, NGLY1, NHS, NIPBL, NKAP, NKX2-1, NLGN3, NONO, NOVA2, NPC1, NPC2, NPHP1, NR2F1, NR2F2, NR4A2, NRAS, NRCAM, NRROS, NRXN1, NSD1, NSD2, NSDHL, NSRP1, NSUN2, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, NUDT2, NUP214, NUS1, OCLN, OCRL, ODC1, OFD1, OGDHL, OGT, OPA3, OPHN1, OSGEP, OTC, OTUD5, OTUD6B, OTUD7A, OTX2, OXR1, P4HTM, PABPC1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PALS1, PAN2, PARN, PAX8, PBX1, PC, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCGF2, PCNT, PCYT2, PDE4D, PDGFRB, PDHA1, PDHB, PDHX, PDSS1, PDSS2, PDZD8, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM2L1, PGM3, PHACTR1, PHF21A, PHF6, PHF8, PHGDH, PHIP, PI4K2A, PI4KA, PIBF1, PIDD1, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PIP5K1C, PITRM1, PLA2G6, PLAA, PLCB1, PLEKHG2, PLK1, PLK4, PLP1, PLPBP, PLXNA1, PLXNB2, PMM2, PMPCB, PNKP, PNPLA6, PNPT1, POGZ, POLA1, POLG, POLR1C, POLR2A, POLR3A, POLR3B, POLRMT, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, POU3F2, POU3F3, PPFIBP1, PPIL1, PPM1D, PPP1CB, PPP1R12A, PPP1R15B, PPP1R21, PPP1R3F, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM13, PRICKLE2, PRKAR1B, PRMT7, PRPF8, PRPS1, PRR12, PRSS12, PRUNE1, PSAP, PSMC3, PSMC5, PSMD12, PSPH, PTDSS1, PTEN, PTF1A, PTCH1, PTCHD1, PTPN11, PTPN23, PTPN4, PTRHD1, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2, QARS1, QDPR, QRICH1, RAB11A, RAB11B, RAB18, RAB23, RAB39B, RAB3GAP1, RAB3GAP2, RAB5C, RAC1, RAC3, RAD21, RAF1, RAI1, RALA, RALGAPA1, RAP1B, RARB, RARS1, RARS2, RBBP5, RBBP8, RBL2, RBM10, RBSN, RELN, RERE, RFT1, RFX3, RFX4, RFX7, RHOBTB2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, ROBO1, ROGDI, RORA, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRM2B, RSRC1, RTEL1, RTN4IP1, RTTN, RXYLT1, SAMD9, SAMHD1, SARS1, SARS2, SATB1, SATB2, SBF1, SC5D, SCAF4, SCAMP5, SCAPER, SCN1A, SCN2A, SCN3A, SCN8A, SCO2, SCYL1, SDCCAG8, SDHA, SDHAF1, SEMA6B, SEPHS1, SEPSECS, SERAC1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SFXN4, SGPL1, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SHQ1, SIAH1, SIK1, SIL1, SIN3A, SIN3B, SIX3, SKI, SKIC3, SLC12A2, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A1, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC30A9, SLC32A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC38A3, SLC39A14, SLC39A8, SLC46A1, SLC4A10, SLC4A4, SLC5A6, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC9A6, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCA5, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMG8, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNF8, SNIP1, SNORD118, SNRPB, SNX14, SNX27, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX4, SOX5, SOX6, SPART, SPECC1L, SPEN, SPG11, SPOP, SPR, SPRED1, SPRED2, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SRCAP, SRD5A3, SRPK3, SRRM2, SRSF1, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STEEP1, STIL, STRA6, STRADA, STT3A, STX1A, STX1B, STXBP1, SUCLG1, SUFU, SUMF1, SUOX, SUPT16H, SURF1, SUZ12, SVBP, SYN1, SYNCRIP, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TAF1, TAF2, TAF4, TAF6, TAF8, TAFAZZIN, TANC2, TANGO2, TAOK1, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D7, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TCEAL1, TCF20, TCF4, TCF7L2, TCN2, TCTN2, TCTN3, TDP2, TECPR2, TEFM, TELO2, TENM3, TET3, TFE3, TGIF1, TH, THOC2, THOC6, THRA, THUMPD1, TIAM1, TIMM50, TLK2, TMCO1, TMEM106B, TMEM147, TMEM165, TMEM216, TMEM222, TMEM237, TMEM240, TMEM63B, TMEM63C, TMEM67, TMEM70, TMEM94, TMTC3, TMX2, TNPO2, TNRC6B, TOE1, TOR1A, TP73, TPP1, TPP2, TRA2B, TRAF7, TRAIP, TRAPPC12, TRAPPC4, TRAPPC6B, TRAPPC9, TREX1, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRMT5, TRNT1, TRPM3, TRRAP, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSPAN7, TSPOAP1, TTC19, TTC5, TTC8, TTI1, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUSC3, TWIST1, U2AF2, UBA5, UBAP2L, UBE2A, UBE3A, UBE3B, UBE4A, UBR1, UBR7, UBTF, UFM1, UFSP2, UGDH, UGP2, UMPS, UNC80, UPF3B, UROC1, USP7, USP9X, VAMP2, VARS1, VARS2, VCP, VLDLR, VPS11, VPS13B, VPS41, VPS4A, VPS53, VRK1, WAC, WARS2, WASF1, WDFY3, WDPCP, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR5, WDR62, WDR73, WDR81, WDR83OS, WIPI2, WNK3, WNT1, WWOX, XRCC4, XYLT1, YIF1B, YIPF5, YWHAG, YY1, ZBTB18, ZBTB20, ZBTB24, ZBTB47, ZBTB7A, ZC4H2, ZDHHC9, ZEB2, ZFHX3, ZFHX4, ZFX, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYM2, ZMYM3, ZMYND11, ZMYND8, ZNF142, ZNF292, ZNF335, ZNF462, ZNF526, ZNF699, ZNF711, ZNFX1, ZSWIM6 -
Informácie o vyšetrení
Vrodené poruchy spojiva
Gen: ABL1, ACTA2, ADAMTS2, ADAMTSL4, ADAMTS17, AEBP1, ALDH18A1, ARIH1, ASPH, ATP6V0A2, ATP6V1A, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, DLG4, DSE, EFEMP1, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, GORAB, CHST14, IPO8, LOX, LTBP2, LTBP4, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PMEPA1, NPR3, PRDM5, PRKG1, PYCR1, RIN2, ROBO3, SECISBP2, SERPINA1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, TSC1, TSC2, ZNF469 -
Informácie o vyšetrení
Makrocefália a syndrómy spojené s nadmerným rastom
Gen: ABCC9, AGA, AKT1, AKT2, AKT3, AMER1, ANKH, ARAF, ARSB, ASPA, ASXL2, ATP7A, AXIN1, BRAF, BRWD3, CA2, CACNA1E, CBL, CCND2, CDKN1C, CHD3, CHD4, CHD8, CLCN7, CTR9, CTSA, CTSK, D2HGDH, DICER1, DIS3L2, DNMT3A, EED, EEF2, EZH2, FAM20C, FERMT3, FUCA1, GALC, GALNS, GATAD2B, GCDH, GFAP, GLB1, GJA4, GLI3, GNPTAB, GNPTG, GNS, GPC3, GPRC5B, GUSB, HERC1, HEXA, HEXB, HGSNAT, HRAS, IDS, IDUA, KDM6B, KIF7, KMT2E, KPTN, KRAS, L1CAM, L2HGDH, LEMD3, LRP5, LZTR1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAX, MCOLN1, MED12, MLC1, MTOR, MYCN, MYT1L, NAGA, NAGLU, NEU1, NF1, NFIB, NFIX, NRAS, NSD1, OFD1, OSTM1, PADI6, PAK1, PDGFRB, PHF6, PIK3CA, PIK3R1, PIK3R2, PLEKHM1, PPP1CB, PPP2R1A, PPP2R5C, PPP2R5D, PSAP, PTCH1, PTEN, PTH1R, PTPN11, RAB5C, RAF1, RASA1, RASGRP2, RHEB, RIN2, RIT1, RNF125, SETD2, SGSH, SHOC2, SLC17A5, SLC25A1, SNX10, SOS1, SOS2, SOST, SPRED1, STRADA, STT3A, SUFU, SUZ12, TAOK1, TBCK, TCF20, TCIRG1, TGFB1, TNFRSF11A, TNFSF11, TRAF7, TRIO, TYROBP, VCP, ZBTB7A, ZDHHC9 -
Informácie o vyšetrení
Lisencefália
Gen: ACTB, ACTG1, APC2, ARF1, ARX, ASPM, ATP1A2, B3GALNT2, B4GAT1, CASP2, CDK13, CEP85L, COL3A1, COL4A2, CRADD, CRPPA, CSNK2A1, CTNNA2, DAG1, DCX, DCHS1, DPYSL5, DYNC1H1, EML1, FKTN, HECTD4, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, MACF1, MAP1B, MAPK8IP3, NDE1, NPRL2, NSRP1, OCLN, OSGEP, PAFAH1B1, PEX13, PIDD1, POMGNT1, POMGNT2, POMT1, POMT2, PPP1R12A, RAB18, RAC3, RELN, RTTN, RXYLT1, SNAP29, TBC1D32, TMX2, TP73, TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP2, VLDLR, WDR62
Súhlas so zasielaním notifikácií
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