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Ollierova choroba
Gén: IDH1
Ollierova choroba
Gén: IDH2
NGS analýza - Vrodené anomálie obličiek a uropoetického traktu
Gén: ACE, ACTA2, ACTG2, AGT, AGTR1, ANOS1, BNC2, BSND, CCNQ, CHD7, CHRM3, CHRNA3, COX14, CTU2, DHCR7, DSTYK, EYA1, FANCB, FGF20, FOXC2, FRAS1, FREM1, FREM2, GATA3, GLI3, GPC3, GRIP1, HNF1B, HOXA13, HPSE2, ITGA8, JAG1, KDM6A, KIF14, KMT2D, KYNU, LRIG2, LRP4, MUC1, MYOCD, NEK8, NIPBL, NOTCH2, NPHP3, NRIP1, OCRL, PAX2, PBX1, PUF60, REN, ROBO2, ROR2, RPGRIP1L, RRM2B, SALL1, SIX1, SIX5, SOX17, STRA6, TBX18, TFAP2A, TMEM237, TNXB, UMOD, VIPAS39, VPS33B, WNT4, WNT5A, WT1, ZIC3
NGS analýza - Waardenburgov syndróm
Gén: EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10, TYR
NGS analýza - Xeroderma pigmentosum
Gén: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
NGS analýza - Usherov syndróm
Gén: ABHD12, ADGRV1 (GPR98), CDH23, CEP250, CIB2, CLRN1, ESPN, GIPC3, HARS, MYO7A, PCDH15, PDZD7, PRPS1, USH1C, USH1G, USH2A, WHRN (DFNB31)
NGS analýza - Vitreoretinopatia
Gén: ATOH7, BEST1, CAPN5, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2 (LEPREL1), RCBTB1, RS1, TSPAN12, VCAN, ZNF408
NGS analýza - Syndrómová porucha sluchu, AR,XL
Gén: ABHD12, ADGRV1, AIFM1, ALMS1, ATP6V1B1, BCAP31, BCS1L, BSND, BTD, CACNA1D, CATSPER2, CD151, CDH23, CEP250, CIB2, CISD2, CLPP, CLRN1, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, DCAF17, DLX5, EDN3, EDNRB, ESPN, FGF3, FOXI1, GFER, GPSM2, GRHL2, HARS, HARS2, HOXA2, HOXB1, HSD17B4, CHSY1, IGF1, KCNE1, KCNJ10, KCNQ1, LARS2, LRP2, MAN2B1, MANBA, MGP, MITF, MYO7A, NARS2, NDP, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PNPT1, POLR1C, POLR1D, PRPS1, RMND1, RPS6KA3, SLC19A2, SLC26A4, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SNAI2, TBC1D24, TIMM8A, TNFRSF11B, TWNK, TYR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2
NGS analýza - Syndrómy náhleho srdcového zlyhania
Gén: ACADVL, ACTC1, ACTN2, AKAP9, ANK2, BAG3, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CSRP3, CTNNA3, DSC2, DSG2, DSP, DTNA, FBN1, FKTN, FLNC, GJA5, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NPPA, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, VCL
NGS analýza - Syndrómy spojené s nízkym vzrastom
Gén: ACAN, ACTB, ACTG1, ALMS1, ARID1A, ARID1B, ARID2, ATR, ATRX, B3GAT3, BCS1L, BLM, BMP2, BRAF, BTK, CBL, CCDC8, CDC42, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, COL1A1, COL1A2, COL27A1, CREBBP, CUL7, DDX3X, DHCR7, EP300, ERCC6, ERCC8, FGD1, FGFR1, FGFR3, FN1, GH1, GHR, GHRHR, GHSR, GLI2, GNAS, GPC4, HDAC8, HESX1, HMGA2, HRAS, IDUA, IGF1, IGF2, IGF1R, IGFALS, IFT172, IHH, INS, INSR, IRS1, KAT6B, KCNJ2, KDM6A, KIF7, KIF22, KMT2A, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LTBP3, LZTR1, MAGEL2, MANBA, MAP2K1, MAP2K2, MAPK1, MYCN, NAA10, NBN, NIPBL, NOTCH2 (okrem exónov 2-4), NPR2, NRAS, NSUN2, OBSL1, ORC1, ORC4, ORC6, OSGEP, OTX2, PCNT, PITX2, PNPLA6, POC1A, POP1, POU1F1, PPP3CA, PRMT7, PROP1, PTH1R, PTPN11, PUF60, RAD21, RAF1, RASA2, RBBP8, RECQL4, RIT1, RNU4ATAC, ROR2, RPS6KA3, RRAS, RRAS2, RTTN, SHOC2, SHOX, SMAD4, SMARCA2, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SOS1, SOS2, SOX11, SOX2, SOX3, SRCAP, STAG2, STAT3, STAT5B, TALDO1, TBCE, TBX19, TBX2, TBX3, TFAP2A, TGDS, THRB, TOP3A, TRIM37, TRMT10A, WDR34, WRN/RECQL2, XRCC4
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