Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu vyšetrení

  • Poruchy autistického spektra
    Gen: ABCE1, ACTB, ADNP, ADSL, AFF2, AHDC1, ALDH5A1, ANK2, ANK3, ANKRD11, ANP32A, AP2S1, ARF3, ARHGEF9, ARID1B, ARX, ASH1L, ASXL3, ATRX, AUTS2, BAZ2B, BCKDK, BCL11A, BRAF, BRSK2, CACNA1A, CACNA1C, CACNA1E, CACNA2D3, CAMK2A, CAMTA2, CAPRIN1, CASK, CASZ1, CDKL5, CELF4, CHAMP1, CHD2, CHD3, CHD7, CHD8, CIC, CNOT3, CORO1A, CPSF7, CREBBP, CSDE1, CSNK2A1, CTCF, CTNNB1, CUL3, DDX3X, DEAF1, DHCR7, DIP2A, DLG4, DMPK, DNMT3A, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EHMT1, EIF3G, ELAVL3, EP300, FMR1, FOXG1, FOXP1, FOXP2, GABRB2, GABRB3, GFAP, GIGYF1, GIGYF2, GNAI1, GRIA2, GRIN1, GRIN2A, GRIN2B, HDLBP, HECTD4, HIVEP2, HNRNPH2, HNRNPU, HRAS, IQSEC2, IRF2BPL, KANSL1, KATNAL2, KCNB1, KCNQ2, KCNQ3, KDM2B, KDM3B, KDM5B, KDM5C, KDM6B, KIAA0232, KLHL20, KMT2A, KMT2C, KMT2E, KMT5B, LDB1, LRRC4C, LZTR1, MAGEC3, MAGEL2, MAP1A, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MKX, MSL3, MTOR, MYCBP2, MYT1L, NAA15, NACC1, NBEA, NCKAP1, NCOA1, NEXMIF, NF1, NIPBL, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NSD1, NUP155, PACS1, PAH, PAX5, PCCB, PCDH19, PHF12, PHF2, PHF21A, PHF3, PHIP, POGZ, POMGNT1, PPP1R9B, PPP2R5D, PPP5C, PRR12, PRR14L, PSMD11, PSMD12, PSMD6, PTCHD1, PTEN, PTK7, PTPN11, RAI1, RALGAPB, RELN, RERE, RFX3, RIMS1, RORB, RUNX1T1, SATB1, SATB2, SCN1A, SCN2A, SCN8A, SETBP1, SETD1A, SETD2, SETD5, SHANK2, SHANK3, SIN3A, SKI, SLC6A1, SLC9A6, SMARCA2, SMARCA4, SMARCC2, SON, SOS2, SOX5, SPAST, SRCAP, SRPRA, STXBP1, SYN1, SYNGAP1, TANC2, TAOK1, TBCEL, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TLE3, TLK2, TM9SF4, TRAF7, TRIM23, TRIO, TRIP12, TRRAP, TSC1, TSC2, TSHZ1, TSHZ3, UBAP2L, UBE3A, UBR1, UPF3B, USP9X, VEZF1, VPS13B, WAC, WDFY3, YY1, ZBTB20, ZBTB21, ZMYND8, ZNF292, ZNF462
    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
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