Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu vyšetrení

  • Achodroplázia, hypochondroplázia
    Gen: FGFR3_NGS
    Informácie o vyšetrení
  • Krabbeho choroba
    Gen: GALC_NGS
    Informácie o vyšetrení
  • Noonanovej syndróm, typ 8
    Gen: RIT1_NGS
    Informácie o vyšetrení
  • Noonanovej syndróm, typ 3
    Gen: KRAS_NGS
    Informácie o vyšetrení
  • Poruchy metabolizmu glykogénu a glykozylácie
    Gen: AGL, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, ATP6AP1, ATP6V0A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, COG1, COG4, COG5, COG6, COG7, COG8, CRPPA, CSGALNACT1, DDOST, DHRSX, DOLK, DPAGT1, DPM1, DPM2, DPM3, EDEM3, ENO3, EOGT, EPM2A, EXT1, EXT2, FBP1, FCSK, FKRP, FKTN, FUT8, G6PC1, G6PC3, GAA, GALNT2, GALNT3, GBE1, GFPT1, GMPPA, GMPPB, GNE, GORAB, GYG1, GYS1, GYS2, CHST14, CHST3, CHST6, CHSY1, LAMP2, LARGE1, LDHA, LFNG, MAGT1, MAN1B1, MAN2B2, MGAT2, MOGS, MPDU1, MPI, NGLY1, NHLRC1, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHKA1, PHKA2, PHKB, PHKG2, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PMM2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGL, PYGM, RBCK1, RFT1, RXYLT1, SEC23B, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, TMEM165, TUSC3, UGGT1, VMA12, VMA22, XYLT1, XYLT2
    Informácie o vyšetrení
  • Retinitis pigmentosa, typ 36
    Gen: PRCD
    Informácie o vyšetrení
  • Renálne ciliopatie a nefronoftíza
    Gen: AHI1, ANKS6, ARL13B, ARL6, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CEP164, CEP290, CEP83, CRB2, CSPP1, CYS1, DCDC2, DLG5, DYNC2H1, FAN1, GLIS2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT74, INPP5E, INVS, IQCB1, LZTFL1, MAPKBP1, MKKS, MKS1, NEK1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PDIA6, PKHD1, PSKH1, RPGRIP1L, SCLT1, SDCCAG8, TCTN2, TCTN3, TMEM138, TMEM17, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TTC21B, TTC26, TTC8, TULP3, TXNDC15, WDPCP, WDR19, WDR35, WDR60, XPNPEP3
    Informácie o vyšetrení
  • Poruchy plodnosti
    Gen: ACR, ACTL7A, ACTL9, ADGRG2, AIP, AIRE, AK7, AK9, AKAP3, AMH, AMHR2, ANOS1, AR, ARMC12, ARMC2, ATG4D, AURKC, BMP15, BMP4, BRDT, BTG4, BTK, C14orf39, CASR, CATIP, CATSPER1, CATSPERT, CCDC146, CCDC34, CCDC39, CCDC62, CCIN, CDC14A, CDC73, CDH23, CEP112, CEP19, CEP78, CFAP251, CFAP43, CFAP44, CFAP45, CFAP47, CFAP52, CFAP54, CFAP57, CFAP58, CFAP61, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, CLPP, CPE, CT55, CYLC1, CYP19A1, DIO1, DNAH1, DNAH10, DNAH12, DNAH17, DNAH2, DNAH6, DNAH8, DNALI1, DNHD1, DPY19L2, DRC1, DUOX2, DUOXA2, DUSP6, DZIP1, ESR1, FANCA, FANCM, FBXO43, FEZF1, FGF17, FGF8, FGFR1, FIGLA, FKBP6, FLRT3, FOXE1, FOXL2, FSHB, FSHR, FSIP2, GATA3, GCM2, GCNA, GDF9, GGN, GGPS1, GH1, GHR, GHRHR, GLA, GLIS3, GNA11, GNAS, GNRH1, GNRHR, GPR101, HAMP, HARS2, HESX1, HFE, HFM1, HS6ST1, HSD17B4, HSD3B2, HSF2BP, HYDIN, CHD7, IFT74, IGSF1, IGSF10, IL17RD, INSL3, IQCN, IRS4, IYD, KASH5, KCNU1, KHDC3L, KISS1R, KLHL10, LARS2, LAS1L, LHB, LHCGR, LHX3, LHX4, LRRC23, M1AP, MCM8, MCM9, MEI1, MEIOB, MNS1, MOS, MOV10L1, MSH4, MSH5, NANOS1, NDNF, NKX2-1, NKX2-5, NLRP5, NLRP7, NOBOX, NR0B1, NR5A1, NSMF, NUP210L, OTX2, PADI6, PANX1, PATL2, PAX8, PDHA2, PLCZ1, PMFBP1, PNLDC1, POU1F1, PPP2R3C, PROK2, PROKR2, PROP1, PRORP, PSMC3IP, PTH, QRICH2, RBBP7, RNF212, RNPC3, RPL10L, RSPH3, SECISBP2, SEMA3A, SEPTIN12, SEPTIN4, SHOC1, SLC16A2, SLC26A4, SLC26A8, SLC40A1, SLC5A5, SOHLH1, SOX10, SOX2, SOX3, SPACA1, SPAG17, SPATA16, SPATA22, SPEF2, SPIDR, SPINK2, SPRY4, SSX1, STAG3, STK33, SUN5, SYCE1, SYCP2, SYCP3, TAC3, TACR3, TAF4B, TBCE, TBL1X, TCF12, TDRD9, TEKT3, TERB1, TERB2, TEX11, TEX14, TEX15, TFR2, TG, THRA, THRB, TLE6, TPO, TRHR, TRIP13, TSGA10, TSHB, TSHR, TTC21A, TTC29, TTF1, TUBB8, TWNK, UBR1, USP26, USP8, USP9Y, WDR11, WDR19, WEE2, XRCC2, ZMYND15, ZP1, ZP2, ZP3, ZPBP, ZSWIM7
    Informácie o vyšetrení
  • Poruchy krvácania a krvných doštičiek
    Gen: ABCG5, ABCG8, ACTA2, ACTB, ACTN1, ACVRL1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S5, BLOC1S6, CBS, CDC42, COL3A1, CYCS, DIAPH1, DTNBP1, ENG, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, GATA1, GBA, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, CHST14, IKZF5, ITGA2B, ITGB3, KDSR, KLKB1, KNG1, LMAN1, LOX, LYST, MCFD2, MECOM, MPI, MPIG6B, MPL, MYH9, NBEAL2, P2RY12, PLA2G4A, PLAU, PROC, PROS1, PTGS1, RASGRP2, RBM8A, RUNX1, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SLC2A10, SLC37A4, SLFN14, SRC, STIM1, STXBP2, TBXA2R, TBXAS1, THBD, THPO, TNXB, TPM4, TUBB1, VIPAS39, VKORC1, VPS33B, VWF, WAS, WIPF1
    Informácie o vyšetrení
  • Hypertenzia a poruchy tvorby aldosterónu
    Gen: CACNA1D, CACNA1H, CLCN2, CUL3, CYP11B1, CYP11B2, CYP17A1, HSD11B2, HSD3B2, KCNJ5, KLHL3, MTX2, NPR1, NR3C1, NR3C2, PDE3A, SCNN1A, SCNN1B, SCNN1G, TTC21B, WNK1, WNK4
    Informácie o vyšetrení
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