KATALÓG VYŠETRENÍ

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Progeroid syndromes
Gén: AGPAT2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, BANF1, BLM, BSCL2, CAV1, CIDEC, COL3A1, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBLN5, FBN1, GORAB, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PDGFRB, POLD1, POLH, POLR3A, PPARG, PSMB8, PTDSS1, PTRF/CAVIN1, PYCR1, RECQL4, SPRTN, TERT, TINF2, WRN, XPC, ZMPSTE24
RASopathies
Gén: ACTB, ACTG1, BRAF, CBL, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, NF1, NF2, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP, SYNGAP1
Primary ciliary dyskinesia
Gén: ARMC4, CCDC39, CCDC40, CCDC65, CCDC103, CCDC114, CCDC151, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH5, DNAH9, DNAH11, DNAI1, DNAI2, DNAL1, DRC1, FOXJ1, GAS2L2, LRRC6, LZTFL1, NME8, OFD1, RPGR, RSPH1, RSPH4A, RSPH9, SPAG1, SPEF2, ZMYND10
Primary immunodeficiency
Gén: ACP5, ACTB, ADA, ADAM17, ADAMTS13, ADAR, AICDA, AIRE, AK2, AP1S3, AP3B1, ARMC4, ASAH1, ATM, B2M, BCL10, BLM, BLNK, BLOC1S3, BLOC1S6, BRIP1, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4BPA, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD8, CARD9, CASP10, CASP8, CBL, CCBE1, CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD81, CD8A, CDC42, CEBPE, CECR1, CFAP298/C21orf59, CFB, CFD, CFH, CFHR1, CFHR3, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, CLPB, COG6, COLEC11, CORO1A, CR2, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, CYP27A1, DCLRE1C, DDX58, DGAT1, DGKE, DHFR, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF4/DYX1C1, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK8, DRC1, DSG1, DTNBP1, DUOX2, EIF2AK3, ELANE, EPCAM, EPG5, ERCC2, ERCC3,ERCC4, ERCC6L2, ETV6, EXTL3, F11, F13A1, F13B, F5, F7, F8, F9, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCN1, FCN3, FERMT3, FGA, FGB, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GATA1, GATA2, GATA3, GFI1, GP1BA, GP9, GUCY2C, HAX1, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, ICOS, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, INSR, INVS, IRAK4, IRF4, IRF7, IRF8, ISG15, ITGAM, ITGB2, ITCH, ITK, JAGN1, JAK1, JAK2, JAK3, KDM6A, KMT2A, KMT2D, KRAS, LAMTOR2, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC6, LRRC8A, LYN, LYST, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MBL2, MC2R, MEFV, MKL1/MRTFA, MLPH, MOGS, MPL, MPLKIP, MPO, MRE11, MTHFD1, MVK, MYD88, MYH9, MYO5A, NBAS, NBN, NCF1, NCF2, NCF4, NCSTN, NEUROG3, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ORAI1, OSTM1, PALB2, PARN, PAX1, PCCA, PCCB, PI4KA, PEPD, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PMS2, PNP, POLA1, POLD1, POLE, POLE2, POMP, PRF1, PRG4, PRKCD, PRKDC, PROC, PROS1, PSENEN, PSMB8, PSTPIP1, PTEN, PTRF/CAVIN1, PTPRC, RAB27A, RAC2, RAD50, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, RET, RFX5, RFXANK, RFXAP, RHOH, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RORC, RPGR, RPL11, RPL15, RPL35A, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD9, SAMHD1, SAR1B, SBDS, SEMA3E, SERPING1, SH2D1A, SH3BP2, SIAE, SKIV2L, SLC26A3, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC46A1, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SNX10, SP110, SPAG1, SPINK5, SPINT2, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBK1, TCF3, TCIRG1, TCN2, TERT, TFRC, TGFB1,, THBD, TICAM1, TINF2, TIRAP, TLR3, TMC6, TMC8, TMEM173/STING1, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TP63, TPP1, TPP2, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TTC7A, TTC37, TYK2, UNC119, UNC13D, UNG, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53, XIAP, XK, ZAP70, ZBTB24, ZCCHC8, ZMYND10
Porphyria
Gén: ALAD, ALAS2, CPOX, FAH, FECH, GATA1, HMBS, PPOX, UROD, UROS
Premature ovarian failure
Gén: AARS2, BMP15, CLPP, CYP17A1, CYP19A1, DIAPH2, EIF2B1, EIF2B2, EIF2B4, EIF2B5, ERCC6, ESR1, ESR2, FANCM, FIGLA, FOXL2, FSHB, FSHR, GALT, GDF9, HARS2, HFM1, HSD17B4, LARS2, LHCGR, LMNA, MCM8, MCM9, MRPS22, MSH5, NOBOX, NR5A1, NUP107, POF1B, PSMC3IP, RCBTB1, SOHLH1, STAG3, TWNK, ZP1
Parkinson disease
Gén: ADH1C, AFG3L2, ATP13A2, ATP1A3, ATP6AP2, ATP7B, ATXN2, ATXN3, C9orf72, C10orf2 (TWNK), C19orf12, COASY, CSF1R, DCTN1, DNAJC5, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, GRN, HTRA2, LRRK2, MAPT, NR4A2, PANK2, PARK7, PDGFB, PDGFRB, PDXK, PINK1, PLA2G6, POLG, PRKN, PRKRA, RAB39B, SLC6A3, SLC20A2, SLC30A10, SLC41A1, SMPD1, SNCA, SNCAIP, SNCB, SPR, SYNJ1, TAF1, TBP, TH, TOR1A, UCHL1, VPS13A, VPS35, WDR45
Polycystic kidney disease
Gén: ALG8, ANKS6, BICC1, COL4A1, DNAJB11, DZIP1L, GANAB, HNF1B, JAG1, LRP5, MUC1, NOTCH2, OFD1, PKD1, PKD2, PKHD1, PRKCSH, SEC61A1, SEC63, TSC1, TSC2, UMOD, VHL, ZNF423
Nonsyndromic obesity
Gén: ABCA1, ADCY3, ADRB2, ADRB3, AFF4, AGRP, ALMS1, APOA1, APOA5, APOB, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, C8orf37, CARTPT, CCDC28B, CEP19, CEP290, CUL4B, DYRK1B, ENPP1, FFAR4, FTO, GHR, GHRL, GNAS, IFT172, IFT27, INPP5E, LEP, LEPR, LZTFL1, MAGEL2, MC3R, MC4R, MCHR1, MKKS, MKS1, MRAP2, MRAP2, MYT1L, NCOA1, NR0B2, NTRK2, PCSK1, PHF6, PHIP, POMC, PPARG, PPARGC1B, PRMT7, RAB23, RAI1, SDC3, SDCCAG8, SETD2, SH2B1, SIM1, TMEM67 , TRIM32, TTC8TUB, UCP1, UCP2, UCP3, VPS13B, WDPCP
Osteogenesis imperfecta
Gén: ALPL, B3GAT3, B4GALT7, BMP1, CLCN5, COL1A1, COL1A2, CREB3L1, CRTAP, FGF23, FKBP10, IFITM5, LRP5, MBTPS2, P3H1, PHEX, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC34A3, SP7, TMEM38B, WNT1
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