KATALÓG VYŠETRENÍ

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NGS analýza - Fanconiho anémia
Gén: ATM, ATR, BLM, BRCA1, BRCA2, BRIP1, CXCR4, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANDC2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2
NGS analýza - Hereditárne demencie
Gén: ANG, APOE, APP, ATP13A2, CHCHD10, CHMP2B, CSF1R, DCTN1, DNAJC5, DNMT1, EPM2A, FUS, GBA, GRN, HNRNPA1, HNRNPA2B1, HTRA1, ITM2B, MAPT, MATR3, NHLRC1, NOTCH3, PRNP, PSEN1, PSEN2, RNF216, SNCA, SNCB, SQSTM1, TARDBP, TBK1, TIMM8A, TREM2, TUBA4A, TYROBP, UBQLN2, VCP
NGS analýza - Familiárna hypercholesterolémia
Gén: ABCG5, ABCG8, APOB, APOE, APTX, CYP27A1, CYP7A1, GPD1, LDLR, LDLRAP1, LIPA, LPL, LRP6, PCSK9
NGS analýza - Familiárne ochorenie malých ciev mozgu
Gén: ABCC6, ACTA2, ADA2, APP, COL3A1, COL4A1, COL4A2, CSF1R, CST3, CTC1, CTSA, FOXC1, GLA, GSN, HTRA1, ITM2B, NOTCH3, PRNP, TREX1
NGS analýza - Epilepsie
Gén: AARS, ABAT, ACOX1, ACY1, ADGRG1, ADSL, AFG3L2, AHI1, AIFM1, AIMP1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, AMT, ANKRD11, AP3B2, ARFGEF2, ARG1, ARHGEF9, ARV1, ASAH1, ASNS, ASPM, ATIC, ATN1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, AUH, BCKDK, BCS1L, BOLA3, BRAF, BRAT1, BUB1B, CACNA1A, CACNA1D, CACNA1E, CACNA1H, CACNA2D2, CACNB4, CASK, CASR, CCDC88C, CDK19, CDKL5, CIC, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNKSR2, CNPY3, CNTNAP2, COG7, COG8, COL4A1, COL4A2, COQ2, COQ8A, COQ9, COX10, COX15, COX6B1, CPA6, CPT2, CSF1R, CSTB, CTC1, CTSD, CTSF, CUL4B, CUX2, D2HGDH, DCX, DENND5A, DEPDC5, DIAPH1, DNAJC5, DNM1, DNM1L, DOCK7, DOLK, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECM1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EML1, EMX2, EPG5, EPM2A, ETHE1, EXOSC3, FA2H, FAR1, FARS2, FASTKD2, FH, FLNA, FOLR1, FOXG1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB3, GABRG2, GALC, GAMT, GCDH, GCK, GCSH, GFAP, GLB1, GLDC, GLI2, GLRA1, GLS, GLUL, GLYCTK, GM2A, GNAO1, GOSR2, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, HACE1, HAX1, HCFC1, HCN1, HEPACAM, HEXA, HGSNAT, HIBCH, HNRNPU, HSD17B10, HSD17B4, HSPD1, HTRA2, HTT, CHD2, CHRNA2, CHRNA4, CHRNB2, IBA57, IDH2, IDS, IER3IP1, IQSEC2, ITPA, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, KIF2A, KIF5C, KMT2E, L2HGDH, LAMA2, LGI1, LIAS, LRPPRC, MAP2K1, MBD5, MBOAT7, MCPH1, MDH2, MECP2, MED17, MEF2C, MFSD8, MLC1, MOCS1, MOCS2, MOGS, MPDU1, MTFMT, MTHFR, MTOR, MTR, NARS2, NDE1, NDUFA1, NDUFAF5, NDUFAF6, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NGLY1, NHLRC1, NPC1, NRXN1, NSDHL, NTRK2, NUBPL, OCLN, OPHN1, PAFAH1B1, PARS2, PC, PCDH19, PDHA1, PDHX, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHACTR1, PHF6, PHGDH, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POMT2, PPP3CA, PPT1, PQBP1, PRICKLE1, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PTPN11, PTPN23, PTS, PURA, PYCR2, QARS, RAB39B, RAB3GAP1, RARS2, RELN, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASET2, ROGDI, RTTN, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHAF1, SEPSECS, SERAC1, SERPINI1, SETBP1, SIX3, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC1A3, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SNIP1, SPTAN1, ST3GAL3, STAG1, STAMBP, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TBC1D24, TBCE, TBCK, TCF4, TPP1, TRAK1, TREX1, TRPM6, TSC1, TSC2, TSEN2, TSEN54, TUBA1A, TUBB2A, TUBB2B, TUBG1, TWNK, UBE2A, UBE3A, UNC80, VLDLR, WDR45, WDR45B, WDR62, WWOX, ZBTB18, ZDHHC9, ZEB2
NGS analýza - Epileptická encefalopatia
Gén: AARS, ABAT, ADSL, ALDH7A1, ALG11, ALG13, AMT, AP3B2, ARHGEF9, ARV1, ASNS, BRAT1, CACNA1A, CACNA1E, CACNA2D2, CASK, CDKL5, CNKSR2, CNPY3, CNTNAP2, CPT2, D2HGDH, DENND5A, DIAPH1, DNM1, DNM1L, DOCK7, EEF1A2, EML1, FAR1, FARS2, FLNA, FOLR1, FOXG1, GABBR2, GABRA1, GABRB3, GABRG2, GAMT, GLDC, GNAO1, GPHN, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, CHD2, IQSEC2, KCNA2, KCNB1, KCNMA1, KCNQ2, KCNQ3, KCNT1, KIF1A, LGI1, MBD5, MECP2, MEF2C, MOCS1, MTHFR, NRXN1, PARS2, PCDH19, PHACTR1, PIGN, PIGQ, PLCB1, PNKP, PNPO, POLG, PPP3CA, PRRT2, PURA, RNASEH2A, RNASEH2B, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPTAN1, ST3GAL3, STAMBP, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBCE, TBCK, TCF4, TREX1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
NGS analýza - Epidermolysis bullosa
Gén: ATP2A2, CARD14, CD151, CDSN, COL17A1, COL7A1, CSTA, DSC3, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, CHST8, IKBKG, ITGA3, ITGA6, ITGB4, JUP, KRT1, KRT5, KRT10, KRT14, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, SLC39A4, SPINK5, TGM5
NGS analýza - Brugadov syndróm
Gén: CACNA1C, CACNB2, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SCN10A, SEMA3A, SLMAP, TRPM4
NGS analýza - Dilatačná kardiomyopatia
Gén: ACTC1, ACTN2, BAG3, DES, DSG2, DSP, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, RBM20, SCN5A, SGCD, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
NGS analýza - Dystónie
Gén: AARS, ABAT, ACOX1, ACSF3, ACTB, ADAR, ADCY5, AFG3L2, ALDH18A1, ALDH6A1, ANO3, AP3D1, ARSA, ARV1, ARX, ATM, ATP7B, ATP13A2, ATP1A2, ATP1A3, BCAP31, CACNA1A, CACNA1B, CACNA1G, CIZ1, CLCN1, CLN3, CLN6, COASY, COL6A3, CP, CYP27A1, DCAF17, DDC, DLAT, DRD2, DRD5, EARS2, ECHS1, FA2H, FASTKD2, FOXG1, FTL, FUCA1, GAMT, GBA, GCDH, GCH1, GM2A, GNAL, GNAO1, GRN, HEXA, HPCA, HPRT1, HTRA2, KCNA1, KCNA4, KCNMA1, KCNQ2, L2HGDH, MAPT, MARS2, MAT1A, MCEE, MCOLN1, MECP2, MED20, MMADHC, MPV17, NDUFA12, NPC1, NPC2, PANK2, PARK2, PDE10A, PDGFB, PDGFRB, PDHX, PINK1, PLA2G6, PLP1, PNKD, PNKP, PNPT1, POLG, POLR3B, PRKCG, PRKRA, PRRT2, PTS, RNASEH2C, SCP2, SDHAF1, SERAC1, SGCE, SLC16A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, SYNJ1, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREX1, TUBB4A, UBTF, VPS13A, WDR45, WDR73, YY1
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