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Sticklerov syndróm, typ 2, AD
Gén: COL11A1
Sticklerov syndróm, typ 1, AD
Gén: COL2A1_MLPA
Sticklerov syndróm, typ 1, AD
Gén: COL2A1
Proximálny symfalangizmus
Gén: NOG
NGS analýza - Waardenburgov syndróm
Gén: EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10, TYR
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 - 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 - Syndrómová porucha sluchu
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
NGS analýza - Syndrómová porucha sluchu, 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
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
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