KATALÓG VYŠETRENÍ

Vyberte kategóriu



Vyberte špecializáciu

Waardenburg syndrome
Gén: EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10, TYR
Xeroderma pigmentosum
Gén: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Usher syndrome
Gén: ABHD12, ADGRV1 (GPR98), CDH23, CEP250, CIB2, CLRN1, ESPN, GIPC3, HARS, MYO7A, PCDH15, PDZD7, PRPS1, USH1C, USH1G, USH2A, WHRN (DFNB31)
Vitreoretinopathy
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
Syndromic deafness, AD, XL
Gén: ACTG1, AIFM1, ANKH, ATP6V1B2, BCAP31, COL11A1, COL11A2, COL2A1, COL4A3, COL4A5, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, EYA1, GATA3, GRHL2, HOXA2, CHD7, MITF, MYH14, MYH9, MYO6, NDP, NLRP3, PAX3, PEX6, POLD1, POLR1D, PRPS1, RPS6KA3, SALL1, SALL4, SEMA3E, SIX1, SIX5, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TSHZ1, TWNK, TYR, WFS1, YAP1
Syndromic deafness, 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
Spondylocostal dysostosis
Gén: DLL3, HES7, LFNG, MESP2, TBX6
Syndromes with short stature
Gén: ACAN, ACTB, ACTG1, ALMS1, ATR, ATRX, B3GAT3, BCS1L, BLM, BRAF, BTK, CBL, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP63, CEP152, COL1A1, COL1A2, COL27A1, CREBBP, CUL7, DHCR7, EP300, ERCC6, ERCC8, FGD1, FGFR1, FGFR3, FN1, GH1, GHR, GHRHR, GHSR, GLI2, GNAS, HDAC8, HESX1, HMGA2, HRAS, IDUA, IFT172, IGF1, IGF1R, IGF2, IGFALS, IHH, INS, INSR, IRS1, KDM6A, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LZTR1, MAP2K1, MAP2K2, NBN, NIPBL, NOTCH2, PROP1, PTPN11, PUF60, RAD21, RAF1, RASA2, RBBP8, RIT1, RNU4ATAC, ROR2, RPS6KA3, RRAS, RTTN, SHOC2, SHOX, SMARCA2, SMARCAL1, SMARCE1, SMC1A, SMC3, SOS1, SOX2, SOX3, SOX11, SRCAP, STAT3, STAT5B, TALDO1, TBCE, TBX2, TBX3, TBX19, THRB, TOP3A, TRIM37, TRMT10A, WRN (RECQL2), XRCC4
Syndromic deafness
Gén: ABHD12, ACTG1, ADGRV1, AIFM1, ALMS1, ANKH, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BSND, BTD, CACNA1D, CATSPER2, CD151, CDH23, CEP250, CIB2, CISD2, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, DCAF17, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ESPN, EYA1, FGF3, FOXI1, GATA3, GFER, GPSM2, GRHL2, HARS, HARS2, HOXA2, HOXB1, HSD17B4, CHD7, CHSY1, IGF1, KCNE1, KCNJ10, KCNQ1, LARS2, LRP2, MAN2B1, MANBA, MGP, MITF, MYH14, MYH9, MYO6, MYO7A, NARS2, NDP, NLRP3, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PNPT1, POLD1, POLR1C, POLR1D, PRPS1, RMND1, RPS6KA3, SALL1, SALL4, SEMA3E, SIX1, SIX5, SLC19A2, SLC26A4, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SNAI2, SOX10, TBC1D24, TCOF1, TFAP2A, TIMM8A, TNFRSF11B, TSHZ1, TWNK, TYR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2, YAP1
Rett and Rett-like syndrome
Gén: CDKL5, FOXG1, GABBR2, IQSEC2, MECP2, MEF2C, NGLY1, NTNG1
1 2 3 4 106 107 108 109
|
© UNILABS SLOVENSKO 2021