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NGS analysis - Limb-girdle muscular dystrophy
Gene: 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 analysis - Polycystic kidney disease
Gene: 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 analysis - Porphyria
Gene: ALAD, ALAS2, CPOX, FAH, FECH, GATA1, HMBS, PPOX, UROD, UROS
NGS analysis - Nonsyndromic obesity
Gene: 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
NGS analysis - Osteogenesis imperfecta
Gene: 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 analysis - Parkinson disease
Gene: 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 analysis - Non-syndromic deafness, AR, XL
Gene: 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 analysis - Nephrotic syndrome
Gene: 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 analysis - Non-syndromic deafness
Gene: 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 analysis - Non-syndromic deafness, AD, XL
Gene: 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
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