Katalóg vyšetrení

Lekárska genetika
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  • Holoprozencefália
    Gen: CDON, CNOT1, DHCR7, FGF8, FGFR1, GLI2, KMT2D, PTCH1, RAD21, SHH, SIX3, SMC1A, STAG2, TGIF1, ZIC2
    Informácie o vyšetrení
  • Hereditárne spastické paraplégie
    Gen: ABCD1, ABHD16A, ACBD6, ACER3, ADAR, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMFR, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ATL1, ATP13A2, B4GALNT1, BCAS3, BICD2, BORCS8, BSCL2, C12orf65, C19orf12, CAPN1, CLDN11, COQ4, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS, DDHD1, DDHD2, DDX3X, ELOVL1, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FBXO7, FICD, FXN, GALC, GBA2, GBE1, GFAP, GCH1, GJA1, GLRX5, GPT2, HACE1, HECTD4, HIKESHI, HMBS, HPDL, HSPD1, IFIH1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KPNA3, L1CAM, LETM1, MAG, MAPK8IP3, NDUFA12, NFU1, NIPA1, NKX6-2, NSRP1, NT5C2, OPA3, PCYT2, PLP1, PNPLA6, POLR3A, PPFIBP1, PRNP, PSEN1, RAB3GAP2, REEP1, REEP2, RETREG1, RINT1, RNASEH2B, RNF170, RTN2, SACS, SERAC1, SHMT2, SLC16A2, SLC1A4, SLC25A15, SLC25A46, SLC2A1, SOD1, SPART, SPAST, SPATA5L1, SPG11, SPG21, SPG7, SPTAN1, STN1, TAF8, TECPR2, TFG, TMEM63C, TUBB4A, UBAP1, UCHL1, WASHC5, WDR45B, ZFYVE26
    Informácie o vyšetrení
  • Hereditárne periférne neuropatie
    Gen: AAAS, AARS1, ABCA1, ABCD1, ABHD12, ACOX1, ADA2, ADCY6, ADGRG6, ADPRS, AGTPBP1, AGXT, AIFM1, ALDH18A1, AMACR, AP1S1, AP5Z1, APOA1, APTX, ARL6IP1, ARSA, ASAH1, ATAD3A, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CAPN1, CD59, CFAP276, CHCHD10, CLP1, CNTNAP1, COA7, COQ7, COX20, COX6A1, CPOX, CTDP1, CYP27A1, CYP2U1, DARS2, DCTN1, DEGS1, DHH, DHTKD1, DHX9, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EEA1, EGR2, ELP1, EMILIN1, ERCC6, ERCC8, ETFDH, EXOSC3, FA2H, FAH, FBLN5, FDXR, FGD4, FICD, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GBE1, GBF1, GDAP1, GJB1, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HPDL, HSPB1, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, ITPR3, KCNA2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, LYST, MAG, MCM3AP, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MT-ATP6, MTMR2, MT-RNR1, MT-TL1, MTRFR, MTTP, MYH14, NAGA, NARS1, NDC1, NDRG1, NDUFS6, NEFH, NEFL, NEMF, NFASC, NGF, NTRK1, NUDT2, OPA1, OPA3, PDHA1, PDK3, PDXK, PDYN, PEX10, PEX7, PHYH, PIEZO2, PIGB, PLAAT3, PLA2G6, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, PNPT1, POLG, POLR3A, POLR3B, PPOX, PRDM12, PRNP, PRPS1, PRX, PTPN11, PTRH2, RAB7A, RCC1, REEP1, RETREG1, RTN2, SACS, SAMD9L, SARS1, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A6, SLC5A7, SMN1, SORD, SOX10, SPAST, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TBCE, TECPR2, TFG, TRIM2, TRPA1, TRMT5, TRPV4, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, UCHL1, VAPB, VCP, VPS13A, VPS13D, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, ZFYVE26
    Informácie o vyšetrení
  • Hereditárne demencie
    Gen: APP, ANXA11, ARSA, ATP13A2, C19orf12, CLN6, COL4A1, CP, CSF1R, CST3, CTSF, CYP27A1, DNAJC5, DNMT1, EPM2A, GRN, CHMP2B, ITM2B, MAPT, NHLRC1, NOTCH3, PRNP, PSEN1, PSEN2, RNF216, SPG21, TARDBP, TBK1, TREX1, TUBA4A, TYROBP, UBQLN2, VCP, VPS13A, VPS13C, XK
    Informácie o vyšetrení
  • Fanconiho anémia
    Gen: BLM, BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, RAD51, SLX4, TOP3A, UBE2T
    Informácie o vyšetrení
  • Ochorenie malých ciev mozgu
    Gen: ABCC6, ACTA2, ACVRL1, ANGPTL6, APP, ATP1A2, CACNA1A, CCM2, COL3A1, COL4A1, COL4A2, COL5A1, COLGALT1, CST3, ENG, FOXC1, GLA, GUCY1A3, HTRA1, ITM2B, KRIT1, NOTCH3, PDCD10, PDGFRB, PRNP, PSEN1, RASA1, RNF213, SAMHD1, SLC2A10, SMAD4, TREX1, TTR, YY1AP1
    Informácie o vyšetrení
  • Poruchy metabolizmu lipidov
    Gen: ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOE, CETP, CYP27A1, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LPL, MTTP, PCSK9, SAR1B
    Informácie o vyšetrení
  • Hereditárne epileptické syndrómy
    Gen: AARS1, AASS, ABAT, ACOX1, ACTL6B, ADAR, ADARB1, ADGRG1, ADPRS, ADSL, AFF3, AFG2A, AFG2B, AGO1, AIMP1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG13, ALG14, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMPD2, AMT, ANK2, ANKRD11, ANO4, AP1G1, AP2M1, AP3B2, APC2, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASXL3, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP5PO, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATRX, BAP1, BCKDHA, BCKDHB, BCS1L, BLTP1, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12orf57, C2orf69, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1I, CACNA2D2, CAD, CAMSAP1, CAPRIN1, CARS2, CASK, CC2D2A, CCDC88A, CDK19, CDKL5, CELF2, CEP85L, CERS1, CERT1, CHD2, CHD4, CHD5, CHKA, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN3, CLCN4, CLDN5, CLN3, CLN8, CLPB, CLTC, CNKSR2, CNNM2, CNOT9, CNPY3, CNTN2, CNTNAP2, COG7, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ9, CPLX1, CREBBP, CRELD1, CSNK2B, CSTB, CTNNA2, CTSD, CUL3, CUL4B, CUX1, CUX2, CYFIP2, D2HGDH, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHDDS, DHPS, DHX30, DIAPH1, DLL1, DMXL2, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPH5, DPM1, DPYD, DROSHA, DTYMK, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, EMC10, EML1, ENTPD1, EPG5, EPM2A, ESAM, ETHE1, EXOSC3, EXT2, FAR1, FARS2, FASTKD2, FBXL4, FBXO11, FBXO28, FCSK, FGF12, FGF13, FGFR3, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRMD5, FRRS1L, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNT2, GAMT, GBA1, GCSH, GFAP, GLB1, GLDC, GLRA2, GLUD1, GLUL, GM2A, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GOT2, GPAA1, GPHN, GRIA2, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GRN, GTPBP2, H3-3A, H3-3B, HACE1, HAX1, HCFC1, HCN1, HCN2, HECTD4, HECW2, HEPACAM, HERC2, HEXA, HEXB, HID1, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HPDL, HRAS, HSD17B10, HSD17B4, HTRA2, IER3IP1, IFIH1, IQSEC2, IRF2BPL, ITPA, KARS1, KAT5, KAT8, KCNA1, KCNA2, KCNA3, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM6B, KIF1A, KIF2A, KIF5C, KLHL20, KMT2E, KPTN, KRAS, LARS1, LETM1, LGI1, LIAS, LMBRD2, LNPK, MACF1, MADD, MAF, MAP2K1, MAP2K2, MAST3, MAST4, MBD5, MBOAT7, MDH2, MECP2, MED11, MED12, MED27, MEF2C, MFF, MFSD8, MINPP1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MTHFR, MTHFS, MTOR, NACC1, NAGA, NAPB, NARS1, NARS2, NBEA, NDE1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF5, NDUFS4, NDUFS8, NDUFV1, NEDD4L, NEUROD2, NEXMIF, NGLY1, NHLRC1, NPRL2, NPRL3, NR4A2, NRROS, NRXN1, NSD1, NSDHL, NSRP1, NTRK2, NUP214, NUS1, OCLN, OGDHL, OPHN1, OTUD6B, OTUD7A, OXR1, P4HTM, PABPC1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCYT2, PDHA1, PDHX, PET100, PGM2L1, PHACTR1, PHGDH, PI4K2A, PIDD1, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGW, PIK3R2, PIP5K1C, PLA2G6, PLAA, PLCB1, PLK1, PLPBP, PLXNA1, PMM2, PMPCB, PNKP, PNPO, PNPT1, POLG, POMGNT1, POMT1, PPFIBP1, PPIL1, PPP1R3F, PPP2CA, PPP3CA, PPT1, PRMT7, PRPF8, PRRT2, PSAP, PTCD3, PTEN, PTPN23, PTS, PUM1, PURA, QARS1, RAB11B, RAB18, RAB5C, RAC3, RALA, RALGAPA1, RARS1, RARS2, RELN, RFT1, RHEB, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, ROGDI, RORA, RORB, RTN4IP1, RTTN, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SEMA6B, SEPSECS, SERPINI1, SETBP1, SETD1A, SETD1B, SETD5, SGSH, SHQ1, SIK1, SLC12A5, SLC13A3, SLC13A5, SLC16A2, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC32A1, SLC35A2, SLC38A3, SLC39A8, SLC4A10, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNIP1, SNORD118, SPTAN1, SPTBN1, ST3GAL3, ST3GAL5, STAG1, STAMBP, STRADA, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TAF8, TANGO2, TBC1D24, TBC1D2B, TBCD, TBCK, TBL1XR1, TCF4, TDP2, TFE3, TIAM1, TIMM50, TMEM222, TMEM63B, TMX2, TNPO2, TPP1, TRA2B, TRAK1, TRAPPC12, TRAPPC4, TREX1, TRIM8, TRIT1, TRPM3, TRPM6, TSC1, TSC2, TSEN54, TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, U2AF2, UBA5, UBAP2L, UBE2A, UBE3A, UBR7, UFM1, UFSP2, UGDH, UGP2, UNC80, USP18, VAMP2, VARS1, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR73, WNK3, WWOX, YIPF5, YWHAG, ZBTB18, ZBTB47, ZDHHC9, ZEB2, ZNF142, ZNF335, ZNFX1
    Informácie o vyšetrení
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