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Osteodisplazi
Osteo-GeneSGKit, IVD -CE
Osteodisplazi, Kolajenopatiler, 241 Gen
ACAN, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, AGPS, ALPL, ALX3, ALX4, AMER1, ANKH, ANO5, ANTXR2, ARSE, ASXL1, ATP6V0A2, ATP7A, B3GAT3, BANF1, BMP1, BMPER, BMPR1B, CA2, CANT1, CBS, CHST14, CHST3, CHSY1, CLCN7, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CRTAP, CTSK, CUL7, CYP27B1, DDR2, DHODH, DLL3, DLX3, DMP1, DOK7, DSPP, DYM, DYNC2H1, EBP, EFEMP2, EFNB1, EIF2AK3, ELN, ENAM, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, FAM20A, FAM20C, FAM83H, FBLN5, FERMT3, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GALNT3, GDF5, GDF6, GHR, GHSR, GJA1, GLE1, GLI1, GLI2, GLI3, GLMN, GNAS, GNPAT, GORAB, GPC6, HES7, HESX1, HOXA11, HOXA13, HOXD10, HOXD13, HPGD, HSPG2, IFT80, IHH, IL11RA, IL1RN, IMPAD1, KLK4, LBR, LEMD3, LFNG, LHX3, LHX4, LIFR, LMBR1, LMX1B, LPIN2, LRP4, LRP5, LTBP4, MASP1, MATN3, MESP2, MGP, MMP13, MMP2, MMP20, MMP9, MSX1, MSX2, MYBPC1, MYH3, MYH8, NEK1, NKX3-2, NLRP3, NOG, NOTCH2, NPR2, OBSL1, ORC1, OSTM1, OTX2, P3H1, PAPSS2, PAX3, PCNT, PEX7, PHEX, PITX1, PLEKHM1, PLOD1, PLOD2, PLOD3, POLR1C, POU1F1, PPIB, PRG4, PROP1, PTH1R, PTHLH, PYCR1, RAPSN, RASGRP2, RECQL4, RMRP, RNU4ATAC, ROR2, RUNX2, SERPINF1, SERPINH1, SH3BP2, SH3PXD2B, SHOX, SLC25A12, SLC26A2, SLC2A10, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLC9A3R1, SMAD3, SOST, SOX2, SOX9, SP7, SQSTM1, TBX15, TBX4, TCIRG1, TCOF1, TGFB1, TGFBR3, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TNNI2, TNNT3, TNXB, TP63, TPM2, TRAPPC2, TREM2, TRIP11, TRPV4, TTC21B, TTR, TWIST1, TYROBP, VCAN, VIPAS39, VPS33B, WDR19, WDR35, WDR72, WISP3, WNK1, WNT1, WNT10A, WNT10B, WNT3, WNT7A, ZNF469
Osteo-GeneSGKit DensidadOsea, IVD -CE
Abnormal kemik mineralizasyonu, 57 Gen
ALPL, AMER1, ANKH, ANO5, BANF1, BMP1, CA2, CLCN7, COL1A1, COL1A2, CRTAP, CTSK, CYP27B1, DLX3, DMP1, ENPP1, EXT1, EXT2, FERMT3, FGF23, FGFR1, FKBP10, GJA1, GNAS, GORAB, HPGD, LEMD3, LRP4, LRP5, MMP2, OSTM1, P3H1, PHEX, PLEKHM1, PLOD2, PPIB, PTH1R, RASGRP2, SERPINF1, SERPINH1, SH3BP2, SLC34A1, SLC34A3, SLC9A3R1, SOST, SP7, SQSTM1, TCIRG1, TGFB1, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TREM2, TYROBP, WNK1, WNT1
Osteo-GeneSGKit OstArticular, IVD -CE
Osteoartiküler Hastalıklar, 64 Gen
ACAN COL1A2 FBLN5 LMX1B PRG4 TNNT3 ATP6V0A2 ATP7A COL3A1 FLNA LTBP4 RAPSN TPM2 GALNT3 B3GAT3 COL4A1 FLNB MYBPC1 SH3PXD2B TRPV4 ANTXR2 CANT1 COL5A1 GDF5 MYH3 SLC2A10 TTR CBS COL5A2 GLE1 MYH8 SLC39A13 VIPAS39 CHST14 COL6A2 GLMN NOG SMAD3 VPS33B CHST3 DOK7 HOXA11 PITX1 TBX4 WISP3 COL12A1 EFEMP2 HPGD PLOD1 TGFBR3 ZNF469 COL1A1 ELN IL1RN PLOD3 TNNI2 COL4A2
Osteo-GeneSGKit ODSindromica, IVD -CE
Sendromik osteodisplazi, 55 Gen
SHOX HSPG2 COL4A4 IFT80 TTC21B LHX4 ACAN ADAMTS17 COL7A1 NEK1 WDR19 POU1F1 EVC ADAMTSL2 COL9A1 ORC1 WDR35 PROP1 EVC2 ASXL1 COL9A2 PAX3 WNT10A SOX2 COL9A3 CHST3 COLEC11 PTH1R GHR NOTCH2 COL11A1 COMP RECQL4 GHSR COL18A1 COL11A2 DLX3 RNU4ATAC GLI2 COL17A1 COL2A1 DYNC2H1 ROR2 HESX1 COL4A6 COL4A3 GPC6 TRPV4 LHX3
Osteo-GeneSGKit CondroDisplasia, IVD -CE
Kondrodisplazi, 46 Gen
AGPS COL2A1 FAM20A LBR SLC35D1 ALX4 DLL3 FAM83H MESP2 TRIP11 ARSE DLX3 FLNB MMP20 TRPV4 BMPER DSPP GDF5 MSX1 WDR72 CHST14 EBP GDF6 PAPSS2 WNT10A CHST3 EFNB1 GNPAT PEX7 COL11A1 ENAM HES7 POLR1C COL11A2 EVC IMPAD1 PTH1R COL1A1 EVC2 KLK4 SLC26A2
Osteo-GeneSGKit OD, IVD -CE
Non-Sendromik osteodisplazi, 66 Gen
ADAMTSL2 CUL7 GLI3 LRP4 PCNT SOST WNT7A ALX3 DYM HOXA13 MGP PTH1R TP63 GHSR ALX4 EFNB1 HOXD10 MMP13 PTHLH TRAPPC2 TBX15 ANKH EIF2AK3 HOXD13 MMP9 RECQL4 TWIST1 FGFR2 BMPR1B ENPP1 HSPG2 MSX2 RMRP WDR19 FGFR3 CHSY1 ESCO2 IHH NKX3-2 ROR2 WDR35 COL10A1 FGFR1 IL11RA NOG RUNX2 WISP3 COL11A1 FLNA LIFR NPR2 SLC26A2 WNT10B COL2A1 GDF5 LMBR1 OBSL1 SLC39A13 WNT3

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