Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu vyšetrení

  • Obezita spôsobená vrodeným deficitom leptínu
    Gen: LEP
    Informácie o vyšetrení
  • Obezita, vrodený deficit receptora pre melanokortin 4
    Gen: MC4R
    Informácie o vyšetrení
  • Ochorenia motorických neurónov / ALS
    Gen: ALS2, ANG, ANXA11, ASCC1, ATL1, BSCL2, DCTN1, DNAJB2, FIG4, FUS, GBE1, HEXA, HEXB, HNRNPA1, CHCHD10, CHMP2B, KIF5A, MATR3, NEK1, OPTN, PFN1, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SMN1, SOD1, SPART, SPAST, SPG11, SPG7, SPTLC1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP, TUBA4A
    Informácie o vyšetrení
  • Ochorenia sietnice
    Gen: ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRV1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, AIRE, ALDH3A2, ALMS1, ALPK1, AMACR, ANTXR1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARR3, ARSG, ATAD3A, ATF6, ATG7, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, BORCS8, C19orf12, C1QTNF5, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP250, CEP290, CEP78, CERKL, CFAP20, CFAP410, CFAP418, CFH, CIB2, CISD2, CLCC1, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COQ2, COQ8B, CRB1, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CTNND1, CTSD, CWC27, CYP4V2, DCT, DHDDS, DHX38, DNAJC30, DNM1L, DRAM2, DYNC2H1, EFEMP1, ELOVL4, ERCC6, ERCC8, ESPN, EXOSC2, EYS, FAM161A, FDXR, FLVCR1, FRMD7, FZD4, GDF6, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, GZF1, HARS1, HCCS, HGSNAT, HK1, HMX1, CHM, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT74, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, INTS11, IQCB1, JAG1, KCNJ13, KCNV2, KIAA1549, KIF11, KIF5A, KIZ, KLC2, KLHL7, LAMA1, LAMP2, LCA5, LETM1, LIG3, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MAN2B1, MCOLN1, MECR, MED12, MERTK, MFF, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MPDZ, MSTO1, MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTRFR, MT-TH, MT-TK, MT-TL1, MTTP, MT-TP, MT-TS2, MVK, MYO7A, NBAS, NDP, NDUFS2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OTX2, P3H2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDSS1, PDXK, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX16, PEX2, PEX26, PEX5, PEX6, PEX7, PHYH, PLA2G5, PLK4, PLOD3, PNPLA6, POC1B, POMGNT1, POMT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PTCD3, PYGM, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD7, SCAPER, SDCCAG8, SGSH, SLC24A1, SLC37A3, SLC38A8, SLC44A1, SLC45A2, SLC52A2, SLC66A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, SPG7, SPTLC1, SRD5A3, SSBP1, STN1, STX3, SUMF1, TIMM8A, TIMP3, TINF2, TLCD3B, TMEM126A, TMEM216, TMEM218, TMEM231, TMEM237, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBAP1L, UFM1, UCHL1, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, ZFYVE26, ZNF408, ZNF423, ZNHIT3
    Informácie o vyšetrení
  • Ochorenie malých ciev mozgu
    Gen: ABCC6, ACTA2, ACVRL1, ANGPTL6, APP, ATP1A2, CACNA1A, CCM2, COL3A1, COL4A1, COL4A2, COL5A1, COLGALT1, CST3, ENG, FOXC1, GLA, GUCY1A3, HTRA1, ITM2B, KRIT1, NOTCH3, PDCD10, PDGFRB, PRNP, PSEN1, RASA1, RNF213, SAMHD1, SLC2A10, SMAD4, TREX1, TTR, YY1AP1
    Informácie o vyšetrení
  • Okihiro syndróm
    Gen: SALL4
    Informácie o vyšetrení
  • Okihiro syndróm
    Gen: SALL4_MLPA
    Informácie o vyšetrení
  • Okulárny albinizmus, typ 1, X-viazaný
    Gen: GPR143
    Informácie o vyšetrení
  • Okulodentodigitálna dysplázia
    Gen: GJA1
    Informácie o vyšetrení
  • Okulofaryngeálna svalová dystrofia
    Gen: PABPN1: exón 1
    Informácie o vyšetrení
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