Prehľadávať katalóg:
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Informácie o vyšetrení
Porfýrie
Gen: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS -
Informácie o vyšetrení
Polycystické ochorenie obličiek
Gen: ALG5, ALG8, ALG9, ANKS6, CEP164, CEP83, CLCN5, COL4A1, CYP24A1, DNAJB11, DZIP1L, FLCN, GANAB, GLA, HNF1B, IFT140, INVS, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, TMEM67, TSC1, TSC2, TTC21B, TULP3, UMOD, VHL, WDR19, XPNPEP3 -
Informácie o vyšetrení
Osteogenesis imperfecta
Gen: ALPL, B3GALT6, B4GALT7, BMP1, CASR, COL1A1, COL1A2, COPB2, CREB3L1, CRTAP, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MESD, NBAS, NOTCH2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TENT5A, TMEM38B, TRPV6, UNC45A, WNT1, WNT11 -
Informácie o vyšetrení
Monogénová obezita
Gen: ADCY3, ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP164, CEP19, CPE, DYRK1B, GNAS, IFT172, IFT27, IFT74, KIDINS220, LEP, LEPR, LZTFL1, MC4R, MKKS, MKS1, MYT1L, NTRK2, PCSK1, PGM2L1, PHF6, PHIP, POMC, SDCCAG8, SIM1, TTC8, VPS13B -
Informácie o vyšetrení
Nesyndrómová porucha sluchu
Gen: ACTG1, AFG2B, AIFM1, ATP11A, ATP2B2, BSND, CABP2, CCDC50, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLDN9, CLIC5, COCH, COL11A1, COL11A2, COL4A6, CRYM, DIAPH1, DIAPH3, DMXL2, DSPP, EPS8, EPS8L2, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPR156, GPSM2, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS1, KCNJ10, KCNQ4, KITLG, LHFPL5, LMX1A, LOXHD1, LRTOMT, MARVELD2, MIR96, MPZL2, MSRB3, MT-CO1, MT-RNR1, MT-TS2, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PDZD7, PJVK, PKHD1L1, PLS1, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, S1PR2, SERPINB6, SIX1, SLC12A2, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, SPNS2, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMEM43, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSHZ1, TSPEAR, USH1C, USP48, WFS1, WHRN -
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