Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu vyšetrení

  • Parkinsonova choroba, neskorý nástup, predispozícia
    Gen: GBA
    Informácie o vyšetrení
  • Paramyotónia, kongenitálna
    Gen: SCN4A
    Informácie o vyšetrení
  • Paramyotónia, kongenitálna
    Gen: SCN4A_MLPA
    Informácie o vyšetrení
  • PAPA syndróm
    Gen: PSTPIP1
    Informácie o vyšetrení
  • Palmoplantárna keratoderma, striata, typ III
    Gen: KRT1
    Informácie o vyšetrení
  • Palmoplantárna keratoderma, epidermolytická
    Gen: KRT9
    Informácie o vyšetrení
  • Pachyonychia, kongenitálna, typ 3
    Gen: KRT6A
    Informácie o vyšetrení
  • Pachyonychia, kongenitálna, typ 2
    Gen: KRT17
    Informácie o vyšetrení
  • Progéria a progeroidné syndrómy
    Gen: AGPAT2, ALDH18A1, ATP6V0A2, ATP6V1E1, B4GALT7, BANF1, BLM, BSCL2, CAV1, CAVIN1, COL3A1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBLN5, FBN1, GORAB, KCNJ6, LMNA, LTBP4, PDGFRB, PIK3R1, PLIN1, POLD1, POLR3A, PPARG, PSMB8, PYCR1, RECQL2, RECQL4, SLC25A24, TOP3A, SPRTN, ZMPSTE24
    Informácie o vyšetrení
  • Primárne imunodeficiencie
    Gen: ACD, ACP5, ADA, ADA2, ADAM17, ADAR, ADH5, AGR2, AICDA, AIRE, AK2, ALPI, ALPK1, ANKZF1, AP3B1, APOA1, APOA2, APOC2, ARF1, ARPC1B, ARPC5, ATM, ATP6AP1, B2M, BACH2, BCL10, BLM, BLNK, BLOC1S6, BTK, C17orf62, C1QA, C1QB, C1QC, C1R, C1S, C2, C2orf69, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CBLB, CCBE1, CCR2, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CDC42, CDCA7, CEBPE, CFD, CFH, CFI, CFP, CIB1, CIITA, CLPB, COL7A1, COPA, CORO1A, CR2, CREBBP, CSF2RA, CSF2RB, CSF3R, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, DBR1, DCLRE1C, DDX58, DEF6, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, DPP9, DSG1, DUT, EFL1, ELANE, ELF4, EP300, EPG5, ERCC6L2, ERG, EXTL3, F12, FADD, FAS, FASLG, FAT4, FERMT1, FERMT3, FGA, FCHO1, FNIP1, FOXN1, FOXP3, G6PC3, G6PD, GALE, GATA1, GATA2, GFI1, GINS1, GNAI2, GSN, GUCY2C, HAVCR2, HAX1, HEATR3, HELLS, HMOX1, HPS1, HPS4, HPS6, HSPA1L, HTRA2, HYOU1, CHD7, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7, IL7R, INO80, IRAK4, IRF1, IRF2BP2, IRF4, IRF7, IRF8, ISG15, ITGB2, ITCH, ITK, ITPR3, JAGN1, JAK1, JAK3, KARS, KDM6A, KMT2A, KMT2D, KRAS, LACC1, LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LYN, LYST, LYZ, MAGT1, MALT1, MAP3K14, MBD4, MCM4, MCTS1, MECOM, MEFV, MOGS, MPEG1, MPIG6B, MPL, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5B, MYSM1, NAF1, NBEAL2, NBN, NCF1, NCF2, NCF4, NCKAP1L, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOTCH3, NPC1, NRAS, NSMCE3, NUDCD3, OAS1, ORAI1, OSMR, OTULIN, PARN, PAX1, PEPD, PGM3, PI4KA, PIK3CD, PIK3CG, PIK3R1, PLCG2, PLG, PNP, POLA1, POLD1, POLE, POMP, POT1, PRF1, PRIM1, PRKCD, PRKDC, PSMB10, PSMB4, PSMB8, PSMB9, PSMD12, PSTPIP1, PTCRA, PTPN2, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, REL, RELA, RELB, RFX5, RFXANK, RFXAP, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RORC, RPSA, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SASH3, SBDS, SEC61A1, SERPINA1, SERPING1, SGPL1, SH2B3, SH2D1A, SH3BP2, SHARPIN, SKIV2L, SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC7A7, SLCO2A1, SMARCAL1, SMARCD2, SNORA31, SOCS1, SP110, SPI1, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT4, STAT5B, STAT6, STIM1, STK4, STX11, STXBP2, STXBP3, SYK, TAP1, TAP2, TAPBP, TAZ, TBCE, TBK1, TBX1, TBXAS1, TCF3, TCN2, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THPO, TICAM1, TLR3, TLR7, TLR8, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF12, TOP2B, TP63, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TTC37, TTC7A, TTR, TYK2, UBA1, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, XIAP, ZAP70, ZBTB24, ZNF341, ZNFX1
    Informácie o vyšetrení
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