Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu 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
  • Anoftalmia a mikroftalmia
    Gen: ABCB6, ADAMTS18, ALDH1A3, ATOH7, BCOR, BMP4, CAPN15, COL4A1, CPAMD8, CRPPA, CYP1B1, FAT1, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GLI2, GRIP1, HCCS, HDAC6, HMX1, CHD7, KMT2D, MAB21L2, MFRP, MITF, MYRF, NAA10, NDP, NHS, OCRL, OTX2, PAX2, PAX6, PITX2, PITX3, PLK4, PORCN, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RPGRIP1L, SALL4, SHH, SIX3, SIX6, SLC38A8, SMCHD1, SMO, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, TMEM98, TUBGCP4, VSX2, YAP1, ZEB2
    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
  • Albinizmus
    Gen: AP3B1, BLOC1S3, BLOC1S5, BLOC1S6, CACNA1A, CACNA1F, CASK, CLDN11, CNGB3, DCT, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LAMA1, LRMDA, LYST, OCA2, PAX6, RAB27A, SACS, SETX, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1
    Informácie o vyšetrení
  • Achromatopsia
    Gen: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP
    Informácie o vyšetrení
  • Neutropénia, ťažká kongenitálna, typ 3, AR
    Gen: HAX1
    Informácie o vyšetrení
  • Neutropénia, ťažká kongenitálna, typ 4, AR
    Gen: G6PC3
    Informácie o vyšetrení
  • Neuronálna ceroidná lipofuscinóza, typ 7
    Gen: MFSD8 (CLN7)
    Informácie o vyšetrení
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