Prehľadávať katalóg:
-
Informácie o vyšetrení
Epilepsia, AD nočná, frontálneho laloka, ADNFLE
Gen: CHRNB2 -
Informácie o vyšetrení
EGFR-deficit
Gen: EGFR -
Informácie o vyšetrení
EGFR-deficit
Gen: EGFR_MLPA -
Informácie o vyšetrení
Endometriálny karcinóm - analýza somatických mutácií
Gen: POLE: kodóny 286, 297, 367, 411, 436, 456 a 459 -
Informácie o vyšetrení
Epileptická encefalopatia
Gen: 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 -
Informácie o vyšetrení
Epilepsie
Gen: 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 -
Informácie o vyšetrení
Epidermolysis bullosa
Gen: 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 -
Informácie o vyšetrení
Ektodermálna dysplázia
Gen: BSC1L, CDH3, DSP, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6, HOXC13, HR, IFT122, JUP, KRT74, KRT85, LRP6, LTBP3, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKBIA, PAX9, PORCN, PRKD1, TP63, WDR35, WNT10A -
Informácie o vyšetrení
Esenciálny tremor
Gen: DRD3 -
Informácie o vyšetrení
Esenciálna fruktozúria
Gen: KHK
Súhlas so zasielaním notifikácií
V prípade ak si prajete byť pravidelne informovaný o zmenách v KATALÓGU VYŠETRENÍ (týkajúcich sa Pridania, Odobratia alebo Úpravy v rámci ponuky), vyplňte prosím nasledovné polia:
