KATALÓG VYŠETRENÍ

Vyberte kategóriu



Vyberte špecializáciu

NGS analýza - Leberova kongenitálna amauróza
Gén: AIPL1, ALMS1, BBS4, CABP4, CEP290, CRB1, CNGA3, CNNM4, CRX, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH5, RDH12, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
NGS analýza - Katarakta
Gén: ABCA3, ABCB6, ABHD12, ADAMTSL4, ADAMTS10, ADAMTS18, AGK, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, CHMP4B, CLPB, COL11A1, COL2A1, COL4A1, COL4A2, COL18A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, DHCR7, EOGT, EPG5, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FBN1, FOXE3, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GCNT2, GFER, GJA1, GJA3, GJA8, HMX1, HSF4, IARS2, JAM3, LIM2, LONP1, MAF, MIP, MIR184, MYH9, NDP, NF2, NHS, NR2E3, OCRL, OPA3, P3H2, PAX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PEX3, PEX5, PEX6, PITX3, POLG, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RDH11, RGS6, RNLS, SC5D, SEC23A, SIL1, SLC16A12, SLC33A1, SLC4A4, SRD5A3, TBC1D20, TDRD7,TFAP2A, TMEM70, TRPM3, UNC45B, VIM, VSX2, WDR36, WFS1, WRN, XYLT2
NGS analýza - Komplexný panel ochorení srdca
Gén: ABL1, ACADVL, ACTA2, ACTC1, ACTN2, AKAP9, ANK2, BAG3, BGN, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CBS, CDH2, COL1A2, COL3A1, COL4A5, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EFEMP2, ELN, EPG5, EYA4, FBN1, FBN2, FKTN, FLNA, FLNC, GAA, GATA4, GATA6, GJA5, GLA, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, LOX, MAT2A, MFAP5, MYBPC3, MYH6, MYH7, MYH11, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEXN, NKX2-5, NPPA, NOTCH1, PKP2, PLN, PRKAG2, PRKG1, PTPN11, RAF1, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SEMA3A, SGCD, SKI, SLC25A4, SLC2A10, SLMAP, SMAD2, SMAD3, SMAD4, SMAD6, SNTA1, SOS1, TAB2, TAZ, TBX20, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL
NGS analýza - Hypogonadotropný hypogonadizmus
Gén: ANOS1, AXL, CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NSMF, POLR3B, PROK2, PROKR2, RNF216, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11
NGS analýza - Ichtyózy
Gén: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, ATP2C1, CAST, CD151, CDSN, CERS3, CLDN1, CSTA, CYP4F22, DSG1, DSG4, DSP, EBP, ELOVL4, ERCC2, ERCC3, FERMT1, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2H5, CHKB, CHST8, JUP, KDSR, KRT1, KRT10, KRT14, KRT2, KRT5, KRT83, KRT9, LIPN, MBTPS2, MMP1, MPLKIP, NIPAL4, NSDHL, OSMR, PEX7, PHGDH, PHYH, PIGA, PIGL, PNPLA1, POMP, PSAT1, RIN2, SHOC2, SLC27A4, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SULT2B1, SUMF1, TGM1, TGM5, VIPAS39, VPS33B, ZMPSTE24
NGS analýza - Kardiomyopatie
Gén: ACADVL, ACTC1, ACTN2, ANK2, BAG3, BRAF, CAV3, CDH2, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EPG5, EYA4, FKTN, FLNC, GAA, GATA4, GATA6, GLA, HCN4, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NKX2-5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SCO2, SGCD, SLC25A4, SOS1, TAB2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL
NGS analýza - Hereditárne periférne neuropatie vrátane CMT neuropatie
Gén: AARS, ABCD1, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BSCL2, C12orf65, CCT5, CNTNAP1, COX6A1, CTDP1, DCAF8, DCTN1, DHH, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MPV17, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PDXK, PEX7, PHYH, PLEKHG5, PMP22, PNKP, POLG, PRPS1, PRX, PTRH2, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SPG11, SPTLC1, SPTLC2, SURF1, TECPR2, TFG, TRIM2, TRPV4, TTR, TYMP, VCP, VRK1, WNK1, YARS
NGS analýza - Hereditárne spastické paraplégie
Gén: ABCD1, ADAR, ALDH3A2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP2B4, ATP13A2, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DARS2, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, GAD1, GALC, GBA2, GJC2, GRID2, GRN, HSPD1, IBA57, IFIH1, KCNA2, KIF1A, KIF1C, KIF5A, L1CAM, LYST, MAG, MARS, NIPA1, NT5C2, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, RAB3GAP2, REEP1, REEP2, RNASEH2B, RTN2, SACS, SERAC1, SLC16A2, SLC33A1, SPART, SPAST, SPG7, SPG11, SPG21, TECPR2, TFG, TUBB4A, UCHL1, USP8, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
NGS analýza - Holoprozencefália
Gén: CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
NGS analýza - Hypertrofická kardiomyopatia
Gén: ACTC1, ACTN2, CAV3, CSRP3, FLNC, JPH2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, VCL
1 2 3 4 5 6 7 8 9 10 11
|
© UNILABS SLOVENSKO 2021