Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu vyšetrení

  • Simpsonov-Golabiho-Behmelov syndróm, typ 1
    Gen: GPC4
    Informácie o vyšetrení
  • Simpsonov-Golabiho-Behmelov syndróm, typ 1
    Gen: GPC3
    Informácie o vyšetrení
  • Skeletálne dysplázie
    Gen: ABCC9, ABL1, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AFF3, AGA, AGPS, AIFM1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1B, ARL6, ARSB, ARSL, ARSK, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, AXIN1, B3GALT6, B3GAT3, B3GLCT, B4GALT7, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CFAP410, C2CD3, CA2, CANT1, CASR, CBFB, CC2D2A, CCDC8, CDC45, CDH3, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP290, CKAP2L, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, COPB2, CREB3L1, CREBBP, CRIPT, CRLF1, CRTAP, CSF1R, CSGALNACT1, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP27B1, CYP2R1, DCC, DDR2, DDRGK1, RIGI, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DMP1, DNMT3A, DOCK6, DPAGT1, DPM1, DSE, DVL1, DVL2, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EDN1, EDNRA, EED, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENPP1, EOGT, EP300, ERF, ERI1, ESCO2, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, TENT5A, CCNQ, FANCB, FANCC, FBLN1, FBN1, FBN2, FBXW11, FERMT3, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FN1, FTO, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HDAC4, HDAC8, HES7, HGSNAT, HHAT, HOXA11, HOXA13, HOXD13, HPGD, HRAS, HS2ST1, HSPA9, HSPG2, CHST14, CHST3, CHSY1, IARS2, CILK1, IDH1, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IGF2, IHH, IL11RA, IL1RN, BPNT2, INPPL1, INTU, KAT6B, KCNJ2, KDELR2, KIAA0753, KIF22, KIF24, KIF5B, KIF7, KMT2A, KMT2D, KYNU, LBR, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP2, LTBP3, MAFB, MAN2B1, MAP2K1, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MECOM, MEGF8, MEOX1, MESD, MESP2, MET, MGP, MKKS, MKS1, MMP13, MMP2, MMP9, MNX1, MPDU1, MSX2, MTX2, MYCN, MYH3, MYO18B, NAGLU, NANS, NBAS, NEK1, NEPRO, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NMNAT1, NOG, NOTCH1, NOTCH2, NOTCH3, NPR2, NPR3, NRCAM, NSD1, NSDHL, NT5E, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PISD, PITX1, PKDCC, PLCB4, PLEKHM1, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PSAT1, PSMC3, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RFT1, RINT1, RIPPLY2, RMRP, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SC5D, SCARF2, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETBP1, SETD2, SETD5, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SQSTM1, STAMBP, STT3A, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, DYNLT2B, TCTN2, TCTN3, TERT, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1, TMEM165, TMEM216, TMEM231, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TOMM7, TONS, TP63, TRAF3IP1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TTC8, TWIST1, TYROBP, UBA2, UFSP2, UNC45A, VDR, VIPAS39, WBP11, WDPCP, WDR19, DYNC2I2, WDR35, DYNC2I1, CCN6, WNT1, WNT10B, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZMPSTE24, ZNF687, ZSWIM
    Informácie o vyšetrení
  • Smithov-Lemliho-Opitzov syndróm
    Gen: DHCR7
    Informácie o vyšetrení
  • Smithov-Lemliho-Opitzov syndróm
    Gen: DHCR7_MLPA
    Informácie o vyšetrení
  • Sotosov syndróm
    Gen: NSD1_NGS
    Informácie o vyšetrení
  • Sotosov syndróm
    Gen: NSD1
    Informácie o vyšetrení
  • Sotosov syndróm
    Gen: NSD1_MLPA
    Informácie o vyšetrení
  • Sotosov syndróm, typ 2
    Gen: NFIX
    Informácie o vyšetrení
  • Spastická paraplégia, typ 11
    Gen: SPG11_MLPA
    Informácie o vyšetrení
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