Prehľadávať katalóg:
-
Informácie o vyšetrení
Dystónia, myoklonická, typ 11
Gen: SGCE -
Informácie o vyšetrení
Dystónia, torzná, typ 1
Gen: TOR1A (DYT1) -
Informácie o vyšetrení
Dystónia, torzná, typ 6
Gen: THAP1 -
Informácie o vyšetrení
Dystónie a Parkinsonova choroba
Gen: ABAT, ACBD6, ACER3, ACOX1, ACTB, ADAR, ADCY5, AFG3L2, ALDH18A1, ANO3, AP1S2, APTX, ARFGEF3, ARSA, ARX, ASL, ATAD1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B2, ATP5G3, ATP7B, BCAP31, BCS1L, C19orf12, C9orf3, CACNA1A, CACNA1G, CACNB4, CAMK4, CLCN1, CLN3, CLN5, CLPB, COASY, COX10, COX15, COX20, CP, CSF1R, CSTB, CYP27A1, DCAF17, DCC, DCTN1, DDC, DHDDS, DLAT, DLD, DNAJC12, DNAJC5, DNAJC6, ECHS1, EIF2AK2, FA2H, FBXO7, FITM2, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, FXN, GBA, GCDH, GFAP, GCH1, GJC2, GLB1, GLRA1, GLRB, GM2A, GNAL, GNAO1, GNB1, GRIN1, GRN, GTPBP2, HCFC1, HECW2, HEXA, HIBCH, HNRNPH1, HPCA, HPRT1, HSD17B10, HSPD1, HTRA2, CHCHD2, CHMP2B, IFIH1, IMPDH2, IRF2BPL, KCNA1, KCNMA1, KCNQ2, KCTD17, KIAA1161, KIF1C, KMT2B, L2HGDH, LRPPRC, LRRK2, LYST, MAPT, MARS2, MECP2, MECR, MED27, MRE11, MTFMT, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NGLY1, NKX2-1, NKX6-2, NPC1, NPC2, NUP54, NUS1, OPA3, PANK2, PARK7, PCCA, PCCB, PDE10A, PDE2A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PET100, PINK1, PLA2G6, PNKD, PNKP, PNPT1, POLG, POLR3A, PPP2R5D, PRKN, PRKRA, PRNP, PRRT2, PSAP, PSEN1, PTRHD1, PTS, QDPR, RAB39B, RHOBTB2, RNASEH2B, RNASEH2C, RNASET2, RNF216, SAMHD1, SCN1A, SCN8A, SERAC1, SETX, SGCE, SHQ1, SLC16A2, SLC18A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC30A9, SLC39A14, SLC6A3, SLC6A8, SNCA, SNORD118, SPATA5L1, SPG11, SPR, SQSTM1, STUB1, SUCLA2, SUOX, SURF1, SYNJ1, SYT1, TAF1, TARS2, TBC1D24, TBK1, TH, THAP1, TIMM8A, TMEM151A, TOR1A, TPK1, TREX1, TSPOAP1, TUBB4A, UBTF, VAC14, VAMP1, VAMP2, VCP, VPS13A, VPS13C, VPS13D, VPS16, VPS35, VPS41, VPS4A, WARS2, WDR45, WDR73, XPR1, YIF1B, YY1, ZNF526, ZSWIM6 -
Informácie o vyšetrení
Dystrofia rohovky, Reisov-Bucklerov typ
Gen: TGFB_NGS -
Informácie o vyšetrení
Dystrofia rohovky, typ Avellino
Gen: TGFBI