Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu vyšetrení

  • MSI - analýza somatických mutácií
    Gen: MSI - mikrosatelitová instabilita
    Informácie o vyšetrení
  • MLH1 - analýza somatických mutácií
    Gen: MLH1: metylácia promótora
    Informácie o vyšetrení
  • Mikrodelécie chromozómu Y
    Gen: delécie v AZF oblasti
    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
  • Myopatie a svalové dystrofie
    Gen: ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ACTG2, ACTN2, ADSS1, AGK, AGL, AHCY, AIFM1, ALDOA, AMPD1, ANO5, ANXA11, ASCC1, ASCC3, ATP2A1, B3GALNT2, B4GAT1, BAG3, BET1, BICD2, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CNTN1, COL12A1, COL13A1, COL25A1, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, COQ8A, COX6A2, CPT2, CRYAB, DAG1, DES, DGUOK, DHX16, DMD, DNA2, DNAJB4, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, FAM111B, FASTKD2, FDX2, FHL1, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GBE1, GFER, GFPT1, GGPS1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HINT1, HMGCR, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB8, HSPG2, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRNE, CHST14, INPP5K, ISCU, CRPPA, ITGA7, JAG2, KBTBD13, KCNA1, KLHL40, KLHL41, KY, LAMA2, LAMP2, LARGE1, LIMS2, LDB3, LDHA, LETM1, LMNA, LMOD3, LPIN1, LRIF1, MADD, MAGEL2, MAP3K20, MATR3, MB, MEGF10, MGME1, MICU1, MLIP, MPDU1, MSTN, MSTO1, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOD1, MYOT, MYPN, NALCN, NDUFAF5, NEB, NEFL, NKX2-1, OPA1, ORAI1, PABPN1, PAX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIEZO2, PLEC, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PRKAG2, PUS1, PYGM, PYROXD1, RBCK1, RMND1, RRM2B, RYR1, RYR3, SCN4A, SCO2, SELENON, SEPTIN9, SGCA, SGCB, SGCD, SGCG, SIL1, SLC22A5, SLC25A20, SLC25A4, SLC25A42, SLC4A10, SMCHD1, SMPX, SPEG, SPTBN4, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SVIL, SYNE1, SYNE2, TAMM41, TANGO2, TAFAZZIN, TBCK, TCAP, TIA1, TK2, TMEM126B, TMEM43, RXYLT1, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRDN, TRIM32, TRIP4, TSFM, TTN, TWNK, TYMP, UNC45B, UNC80, VCP, VMA21, VPS13A, VWA1, YARS2, ZC4H2
    Informácie o vyšetrení
  • Mikrocefália a pontocerebelárna hypoplázia
    Gen: AARS1, ACBD6, ADARB1, ADGRG1, AFG2A, AFG2B, AMPD2, ANKLE2, AP4E1, ARF3, ARFGEF2, ARPC4, ASPM, ATAD3A, ATP1A2, ATP6V0A1, ATP6V0C, ATR, ATRX, B3GALNT2, B4GAT1, BLM, BLTP1, BPTF, BRAT1, BRCA2, BRIP1, BUB1, BUB1B, CACNA1G, CAMK2B, CAMSAP1, CASK, CCND2, CDK5RAP2, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP55, CEP57, CHAMP1, CHKA, CHMP1A, CIT, CKAP2L, CLP1, COASY, CREBBP, CRPPA, CSNK2A1, CTCF, CTNNA2, CTNNB1, CTU2, CWF19L1, DDX11, DHCR7, DIAPH1, DKC1, DNA2, DNMT3A, DOHH, DONSON, DPM1, DPP6, DROSHA, DYNC1I2, DYRK1A, EFTUD2, EIF2S3, EIF5A, ERCC4, ERCC6, ERCC8, EXOSC3, EXOSC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBRSL1, FKRP, FKTN, FOXG1, FRA10AC1, GINS3, GMNN, GMPPB, GON7, GPT2, GRM7, GTF2E2, H4C3, HDAC8, HHAT, HMGB1, HPDL, IARS1, IER3IP1, IGF1, IGF1R, INTS11, ITPR1, KCNC3, KCNJ6, KIF11, KIF14, KIF2A, KIFBP, KMT2B, KNL1, LAGE3, LARGE1, LARP7, LIG4, LMNB1, LMNB2, MACF1, MCPH1, MECP2, METTL5, MFSD2A, MINPP1, MORC2, MSMO1, MYCN, NALCN, NAPB, NARS1, NBN, NCAPD2, NCAPD3, NDE1, NHEJ1, NIPBL, NSD2, NSRP1, NUP107, NUP188, NUP214, OPHN1, ORC1, ORC4, ORC6, OSGEP, PCDH12, PCNT, PDHA1, PI4KA, PLK4, PNKP, POC1A, POGZ, POLE, POMGNT1, POMGNT2, POMT1, POMT2, PPFIBP1, PPIL1, PQBP1, PRDM13, PRIM1, PRUNE1, PTF1A, PTPN23, PUF60, PUS7, RAB18, RAB3GAP1, RAD21, RAD50, RAD51, RARS2, RBBP8, RELN, RNF113A, ROBO3, RPL10, RTTN, RXYLT1, SARS1, SASS6, SEPSECS, SLC1A4, SLC25A19, SLC25A46, SLC38A3, SLC9A6, SLF2, SLX4, SMARCA5, SMC1A, SMC3, SMC5, SMG8, SMPD4, SNX14, SOX11, SPTBN2, STAMBP, STIL, SVBP, TBC1D20, TBC1D23, TBCD, TINF2, TMX2, TNPO2, TOE1, TOP3A, TP53RK, TRAIP, TRAPPC10, TRAPPC12, TRAPPC6B, TRAPPC9, TRIO, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TTC5, TTI1, TUBA1A, TUBB2B, TUBB3, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, UBA5, UBE3B, UFC1, UFM1, UGP2, UNC80, VLDLR, VRK1, WDR11, WDR37, WDR4, WDR62, WDR73, WDR81, WLS, XRCC4, YIPF5, ZEB2, ZNF335, ZNF526
    Informácie o vyšetrení
  • Makrocefália a syndrómy spojené s nadmerným rastom
    Gen: ABCC9, AGA, AKT1, AKT2, AKT3, AMER1, ANKH, ARAF, ARSB, ASPA, ASXL2, ATP7A, AXIN1, BRAF, BRWD3, CA2, CACNA1E, CBL, CCND2, CDKN1C, CHD3, CHD4, CHD8, CLCN7, CTR9, CTSA, CTSK, D2HGDH, DICER1, DIS3L2, DNMT3A, EED, EEF2, EZH2, FAM20C, FERMT3, FUCA1, GALC, GALNS, GATAD2B, GCDH, GFAP, GLB1, GJA4, GLI3, GNPTAB, GNPTG, GNS, GPC3, GPRC5B, GUSB, HERC1, HEXA, HEXB, HGSNAT, HRAS, IDS, IDUA, KDM6B, KIF7, KMT2E, KPTN, KRAS, L1CAM, L2HGDH, LEMD3, LRP5, LZTR1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAX, MCOLN1, MED12, MLC1, MTOR, MYCN, MYT1L, NAGA, NAGLU, NEU1, NF1, NFIB, NFIX, NRAS, NSD1, OFD1, OSTM1, PADI6, PAK1, PDGFRB, PHF6, PIK3CA, PIK3R1, PIK3R2, PLEKHM1, PPP1CB, PPP2R1A, PPP2R5C, PPP2R5D, PSAP, PTCH1, PTEN, PTH1R, PTPN11, RAB5C, RAF1, RASA1, RASGRP2, RHEB, RIN2, RIT1, RNF125, SETD2, SGSH, SHOC2, SLC17A5, SLC25A1, SNX10, SOS1, SOS2, SOST, SPRED1, STRADA, STT3A, SUFU, SUZ12, TAOK1, TBCK, TCF20, TCIRG1, TGFB1, TNFRSF11A, TNFSF11, TRAF7, TRIO, TYROBP, VCP, ZBTB7A, ZDHHC9
    Informácie o vyšetrení
  • Myotónia, kongenitálna, Beckerova a Thomsenova
    Gen: CLCN1
    Informácie o vyšetrení
  • Myotónia, kongenitálna, Beckerova a Thomsenova
    Gen: CLCN1_MLPA
    Informácie o vyšetrení
  • Myopatia s Pagetovou chorobou kostí a demenciou
    Gen: VCP
    Informácie o vyšetrení
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