KATALÓG VYŠETRENÍ

Vyberte kategóriu



Vyberte špecializáciu

NGS analýza - 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
NGS analýza - Parkinsonova choroba
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
NGS analýza - Pletencová svalová dystrofia
Gén: ANO5, BVES, CAPN3, CAV3, DAG1, DES, DMD, DNAJB6, DOK7, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GMPPB, GNE, HNRNPDL, ISPD (CRPPA), LAMA2, LARGE1, LIMS2, LMNA, MYOT, PLEC, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP, VMA21
NGS analýza - Polycystické ochorenie obličiek
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
NGS analýza - Nefrotický syndróm
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
NGS analýza - Nesyndrómová porucha sluchu
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
NGS analýza - Nesyndrómová porucha sluchu, 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
NGS analýza - Nesyndrómová porucha sluchu, 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
NGS analýza - Monogénové zápalové ochorenie čriev
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
NGS analýza - Myopatie a svalové dystrofie
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, DNMT3B, DOK7, DPM1, DPM2, DPM3, 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, MAGEL2, MATR3, MEGF10, MICU1, MSTN, MTM1, MTMR14, MUSK, MYBPC1, MYF6, MYH2, MYH3, MYH7, MYL1, MYO18B, MYOT, MYPN, NALCN, NDUFAF5, NEB, NEFL, NKX2-1, OPA1, 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
1 2 3 4 5 6 7 8 9 10 11
|
© UNILABS SLOVENSKO 2021