KATALÓG VYŠETRENÍ

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Non-syndromic deafness, AD, XL
Gén: ACTG1, AIFM1, CCDC50, CEACAM16, COCH, COL4A6, COL11A2, CRYM, DIABLO, DIAPH1, DIAPH3, DSPP, EYA4, GJB3, GJB6, GRHL2, GSDME, HOMER2, KCNQ4, KITLG, MYH9, MYH14, MYO6, MYO7A, NLRP3, OSBPL2, P2RX2, PDE1C, POU3F4, POU4F3, PRPS1, SIX1, SLC17A8, SMPX, TBC1D24, TECTA, TMC1, TNC, WFS1
Non-syndromic deafness, AR, XL
Gén: ADCY1, AIFM1, ATP2B2, BSND, CABP2, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, DCDC2, DFNB59 , ELMOD3, EPS8, ESPN, ESRRB, FAM65B , GIPC3, GJB2, GJB3, GJB6, GRXCR1, GRXCR2, HGF, ILDR1, KARS, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PDZD7, PNPT1, POU3F4, PRPS1, RDX, SERPINB6, SLC26A4, SLC26A5, SMPX. STRC, SYNE4, TBC1D24, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WHRN
Nephrotic syndrome
Gén: ACTN4, AMN, ANLN, APOE, APOL1, ARHGDIA, AVIL, CD151, CD2AP, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FAN1, FN1, INF2, ITGA3, KANK2, LAMB2, LMX1B, MAFB, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, OCRL, OSGEP, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TP53RK, TRPC6, WDR4, WDR73, WT1
Non-syndromic deafness
Gén: ACTG1, ADCY1, AIFM1, ATP2B2, BSND, CABP2, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, FAM65B, GIPC3, GJB2, GJB3, GJB6, GRHL2, GRXCR1, GRXCR2, HGF, HOMER2, ILDR1, KARS, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PDE1C, PDZD7, PNPT1, POU3F4, POU4F3, PRPS1, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SMPX, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WFS1, WHRN
Myopathies and muscular dystrophies
Gén: ABHD5, ACADS, ACADVL, ACTA1, ACTG2, AGL, AMPD1, ANO5, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRNE, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, CPT2, CRYAB, DAG1, DES, DMD, DNA2, DNAJB6, DNM2, DOK7, DPM1, DPM2, DPM3, DUX4, DYSF, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, FAM111B, FDX1L, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GBE1, GFER, GFPT1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HINT1, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPG2, INPP5K, ISCU, ISPD, ITGA7, KBTBD13, KCNA1, KCNJ2, KLHL40, KLHL41, LAMA2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, MADD, MATR3, MEGF10, MICU1, MSTN, MTM1, MTMR14, MUSK, MYBPC1, MYF6, MYH3, MYH2, MYH7, MYH14, MYL1, MYO18B, MYOT, MYPN, NALCN, NEB, NEFL, OPA1, ORAI1, PABPN1, PAX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIEZO2, PLEC, PNPLA2, POGLUT1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PUS1, PYGM, PYROXD1, RBCK1, RRM2B, RYR1, SCN4A, SELENON, SEPT9, SGCA, SGCB, SGCD, SGCG, SIL1, SLC22A5, SLC25A4, SMCHD1, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SVIL, SYNE1, SYNE2, TAZ, TBCK, TCAP, TIA1, TK2, TMEM5, TMEM43, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TTN, TWNK, TYMP, UNC80, VCP, VMA21, VPS13A
Myotonias
Gén: ATP2A1, CACNA1A, CACNA1S, CAV3, CLCN1, CNBP, DMPK, GLRA1, HINT1, HSPG2, KCNA1, KCNJ2, PTRF, RYR1, SCN4A, TNPO3
Microcephaly and pontocerebellar hypoplasia
Gén: AKT3, AMPD2, ANKLE2, AP4M1, ARFGEF2, ASPM, ASXL1, ASXL3, ATR, ATRIP, ATRX, BRAT1, BUB1B, CASK, CDK5RAP2, CDK6, CDKL5, CENPE, CENPJ, CEP135, CEP152, CEP63, CKAP2L, COX7B, CREBBP, CRIPT, CTNNB1, DDX3X, DHCR7, DIAPH1, DNM1L, DYNC1H1, DYRK1A, EFTUD2, EP300, EXOSC3, FOXG1, GFM1, GPT2, HMGB3, IER3IP1, KANSL1, KAT6A, KATNB1, KIF11, KIF1A, KMT2D, KNL1, LIG4, MBD5, MCPH1, MECP2, MED17, MFSD2A, MIPEP, MIR17HG, MRE11, MSMO1, MYCN, MYO18B, NBN, NCAPD3, NDE1, NHEJ1, NIN, NIPBL, NR2E1, OPHN1, PAFAH1B1, PCDH12, PCLO, PCNT, PHC1, PHGDH, PLEKHG2, PLK4, PNKP, POMT1, PPP1R15B, PQBP1, QARS1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RNASEH2C, RTTN, SASS6, SEPSECS, SLC25A19, SLC2A1, SLC9A6, SMARCA2, SMARCE1, SNAP29, SOX11, SPATA5, STAG2, STAMBP, STIL, TBC1D20, TBC1D23, TCF4, THOC6, TMTC3, TOE1, TOP3A, TRAPPC9, TRMT10A, TSEN2, TSEN34, TSEN54, TUBA1A, TUBB, TUBB2B, TUBB3, TUBGCP4, TUBGCP6, UBE3A, UBE3B, VPS13B, VRK1, WDR62, WDR73, XRCC4, ZEB2, ZNF335
Monogenic inflammatory bowel disease
Gén: ADA, ADAM17, AICDA, ATG16L1, BTK, CD3G, CD40LG, COL7A1, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, EPCAM, FERMT1, FOXP3, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IL10, IL10RA, IL10RB, IL12B, IL21, IL2RA, IL23R, IL2RG, IRGM, ITGB2, JAK2, LIG4, LRBA, MEFV, MVK, NCF1, NCF2, NCF4, NFAT5, NLRC4, NOD2, PIK3CD, PIK3R1, PLCG2, PTEN, RAG1, RAG2, RTEL1, SH2D1A, SKIV2L, SLC22A4, SLC22A5, SLC37A4, STAT1, STAT3, STIM1, STXBP2, TGFBR2, TTC7A, TTC37, TYK2, WAS, ZAP70
Macular dystrophies including Stargardt disease
Gén: ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CFH, CLN3, CNGB3, CRB1, CRX, CTNNA1, EFEMP1, ELOVL4, FSCN2, HMCN1, GUCA1B, IMPG1, IMPG2, KCNJ13, KCNV2, MFSD8, NMNAT1, PROM1, PRPH2, RAX2, RBP3, RDH12, RDH5, RLBP1, RP1L1, RPGR, RPGRIP1, RS1, TIMP3, TTLL5
Marfan, Ehlers-Danlos, Loeys-Dietz syndrome, aortopathy and differential diagnosis
Gén: ABCC6, ABL1, ACTA2, ADAMTS2, ADAMTS10, ADAMTS17, ADAMTSL4, ALDH18A1, ATP6V0A2, ATP7A, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, DSE, EFEMP2, ELN, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, GORAB, HCN4, CHST14, LOX, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, P3H1, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
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