Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu vyšetrení

  • Achromatopsia, typ 6
    Gen: PDE6H
    Informácie o vyšetrení
  • Ataxia asociovaná s fragilným X chromozómom
    Gen: FMR1
    Informácie o vyšetrení
  • Amyotrofická laterálna skleróza, riziko rozvoja, typ 13
    Gen: ATXN2
    Informácie o vyšetrení
  • Ataxia s okulomotorickou apraxiou, typ 1
    Gen: APTX_MLPA
    Informácie o vyšetrení
  • Agenéza brušných svalov (Prune-Belly syndróm)
    Gen: CHRM3
    Informácie o vyšetrení
  • Autoinflamačné ochorenia
    Gen: ACP5, ADA2, ADAM17, ALPK1, APOA1, APOA2, APOC2, ARPC5, C2orf69, CARD14, CDC42, DNASE1L3, DPP9, ELANE, FGA, GSN, HAVCR2, IL1RN, IL36RN, IRAK4, JAK1, LACC1, LPIN2, LYZ, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OAS1, OSMR, OTULIN, PLCG2, POLA1, PSMB10, PSMB4, PSMB8, PSMB9, PSTPIP1, RBCK1, SH3BP2, SHARPIN, SLC29A3, STAT2, STAT4, TMEM173, TNFAIP3, TNFRSF1A, TTR, UBA1, USP18, WDR1, ZNFX1
    Informácie o vyšetrení
  • Ataxie
    Gen: AAAS, ABCB7, ABCD1, ABHD12, ACBD6, ACO2, ADCY5, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, AIMP1, ALAS2, ALDH18A1, ALDH3A2, ALDH5A1, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, ALS2, AMACR, AMPD2, AMT, ANG, ANO10, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARL13B, ARL3, ARL6IP1, ARMC9, ARSA, ARSI, ARX, ASL, ATAD3A, ATCAY, ATG7, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B2, ATP2B3, ATP2B4, ATP6AP1, ATP6V0A1, ATP6V0A2, ATP7B, ATP8A2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BBS1, BEAN1, BICD2, BRF1, BSCL2, BTD, C19orf12, C2CD3, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAD, CAMTA1, CAPN1, CASK, CBY1, CC2D2A, CCDC88C, CCT5, CENPF, CEP104, CEP120, CEP290, CEP41, CILK1, CLCN2, CLN5, CLN6, CLN8, CLP1, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ8A, COX20, CP, CPLANE1, CPT1C, CRB2, CRPPA, CSF1R, CSGALNACT1, CSPP1, CSTB, CTBP1, CTDP1, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DAGLA, DARS1, DARS2, DDB2, DDHD1, DDHD2, DDOST, DDX59, DHCR7, DHDDS, DHRSX, DKC1, DLAT, DLG4, DNAJC19, DNAJC3, DNAJC5, DNM2, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYSL5, DSTYK, EBF3, EDEM3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ENTPD1, EOGT, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, EVC, EVC2, EXOC3L2, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAM149B1, FARS2, FBXL4, FBXO7, FCSK, FDXR, FEM1C, FGF14, FIG4, FKRP, FKTN, FLRT1, FLVCR1, FOLR1, FRMD5, FUS, FUT8, FXN, G6PC3, GAD1, GALC, GALNT2, GALNT3, GAN, GARS1, GBA1, GBA2, GBE1, GCDH, GCLC, GCSH, GEMIN5, GFAP, GFPT1, GCH1, GJB1, GJC2, GLB1, GLDC, GLI3, GLRA1, GLRB, GLRX5, GLTP, GM2A, GMPPA, GMPPB, GNB1, GNE, GORAB, GOSR2, GPAA1, GPT2, GRID2, GRM1, GRN, HACE1, HEPACAM, HERC1, HEXA, HEXB, HMBS, HPRT1, HSD17B4, HSPD1, HTRA1, HYCC1, HYLS1, CHMP1A, CHST14, CHST3, CHST6, CHSY1, IBA57, IFIH1, IFRD1, IFT74, IGDCC3, INPP5E, INPP5K, INTS11, IRF2BPL, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNN2, KCNQ2, KIAA0586, KIAA0753, KIDINS220, KIF1A, KIF1C, KIF5A, KIF5C, KIF7, KLC2, KLC4, KY, L1CAM, L2HGDH, LAMA1, LARGE1, LARS2, LETM1, LFNG, LYST, MAG, MAGT1, MAN1B1, MAN2B1, MAPK8IP3, MARS1, MARS2, MFN2, MFSD8, MGAT2, MINPP1, MKS1, MLC1, MMACHC, MME, MOGS, MORC2, MPDU1, MPI, MRE11, MSTO1, MT-ATP6, MTCL1, MTFMT, MTPAP, MTRFR, MTRR, MTTP, MVK, NAA60, NARS2, NAXE, NDUFS7, NEU1, NFASC, NGLY1, NHLRC1, NIPA1, NKX2-1, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NPHP3, NPTX1, NT5C2, NUBPL, NUS1, OFD1, OGDHL, OPA1, OPA3, OPHN1, OPTN, PACS2, PANK2, PAX6, PCNA, PCYT2, PDE6D, PDHX, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PHYH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PIK3R5, PITRM1, PLA2G6, PLEKHG4, PLP1, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, PNPT1, POLG, POLH, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU4F1, PPT1, PRDM13, PRDX3, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTRH2, PUM1, RAB3A, RAB3GAP2, RARS2, REEP1, REEP2, RELN, RETREG1, RFC1, RFT1, RNASEH2B, RNASET2, RNF168, RNF170, RNF216, RNF220, ROBO3, RORA, RPGRIP1L, RRM2B, RTN2, RUBCN, RXYLT1, SACS, SAMD9L, SCLT1, SCN1A, SCN2A, SCN8A, SCYL1, SEC16A, SEC23B, SELENOI, SEPSECS, SERAC1, SETX, SIL1, SKOR1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC44A1, SLC52A2, SLC9A1, SLC9A6, SMPD1, SNAP25, SNX14, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STUB1, SUFU, SUN1, SUN2, SYNE1, SYNGAP1, SYT14, TANGO2, TARDBP, TBC1D23, TBCC, TBCE, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TFG, TGM6, TH, THG1L, TINF2, TMEM107, TMEM138, TMEM165, TMEM216, TMEM218, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TOGARAM1, TPP1, TRAPPC11, TRPC3, TRPV4, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTPA, TUBA1A, TUBA4A, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UBAP1, UBQLN2, UBTF, UCHL1, USP8, VAMP1, VAPB, VARS2, VCP, VLDLR, VMA12, VMA22, VPS13A, VPS13B, VPS13D, VPS37A, VPS41, VPS53, VRK1, WASHC5, WDR45, WDR48, WDR73, WDR81, WFS1, WWOX, XPA, XPC, XRCC1, XYLT1, XYLT2, ZFR, ZFYVE26, ZFYVE27, ZNF423, ZNF592, ZSWIM6
    Informácie o vyšetrení
  • Arytmie
    Gen: ACTC1, ACTN2, BAG3, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CDH2, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, FLNC, GLA, GLRA1, GNB5, HCN4, JUP, KCNE1, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, MYBPC3, MYH7, NEXN, NKX2-5, PHOX2B, PKP2, PLN, POPDC2, PPA2, PRDM16, PRKAG2, RBM20, RYR2, SCN5A, SLC4A3, TBX20, TBX5, TECRL, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TSPYL1, TTN, TTR, VCL
    Informácie o vyšetrení
  • Artrogrypóza
    Gen: ACTA1, ACTC1, ADAMTS10, ADAMTS15, ADCY6, ADGRG6, ALG3, ANTXR2, ASCC1, ASXL1, ATP1A2, B3GALNT2, B4GAT1, BICD2, BLTP1, BORCS5, CACNA1E, CACNA1S, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTNAP1, COASY, COL12A1, COL25A1, COL6A1, COL6A2, COL6A3, COLQ, CRLF1, CRPPA, CSMD1, DAG1, DHCR24, DNM2, DOK7, DPAGT1, DST, DYNC1H1, EBP, ECEL1, ERBB3, ERCC5, ERCC6, ERCC8, ERGIC1, EXOSC3, FAM20C, FBN2, FGFR2, FGFR3, FILIP1, FKBP10, FKRP, FKTN, FLNA, FLNB, FLNC, FLVCR2, GBA1, GBE1, GLDN, GLE1, GMPPB, HSPG2, IRF6, KAT6B, KCNK3, KIDINS220, KIF21A, KLHL40, KLHL41, KLHL7, KY, LAMA2, LARGE1, LGI3, LGI4, LIFR, LMOD3, LMX1B, MAGEL2, MED11, MED12, MET, MTM1, MUSK, MYBPC1, MYH3, MYH8, MYMK, NALCN, NEB, NEK9, NUP88, ORAI1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PIEZO2, PIP5K1C, PLOD1, PLOD2, PMM2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPP3CA, PRG4, PSMF1, RAPSN, RIPK4, RXYLT1, RYR1, SCARF2, SCN1A, SCN4A, SELENON, SENP7, SKI, SLC18A3, SLC29A3, SLC35A3, SLC5A7, SLC6A9, SMAD3, SMAD4, SMN1, SMPD4, STAC3, STIM1, SYNE1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNI2, TNNT1, TNNT3, TOR1A, TOR1AIP1, TPM2, TPM3, TRPV4, TSEN54, TTN, UBA1, VAMP1, VIPAS39, VPS33B, ZC4H2, ZMPSTE24
    Informácie o vyšetrení
  • Aortopatie
    Gen: ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ARIH1, ASPH, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, DLG4, DSE, EFEMP1, EFEMP2, ELN, EMILIN1, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, HCN4, CHST14, IPO8, KCNMA1, LOX, LTBP1, LTBP3, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, NPR3, PCGF2, PDGFRB, PLOD1, PLOD3, PMEPA1, PRDM5, PRKG1, PTDSS1, PYCR1, RIN2, SECISBP2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR2, THSD4, TNXB, ZNF469
    Informácie o vyšetrení
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