NGS Skelettdysplasie

Skelettdysplasie

Skelettdysplasie/IUGR Gen Panel (106 Gene)
AGPS, ALPL, ALX3, ALX4, ARSE, BMP1, CCDC8, COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL9A1, COMP, CRTAP, CUL7, DHCR7, DHODH, DLL3, EBP, EFNB1, EFTUD2, EOGT, ESCO2, FBN1, FGD1, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FZD2, GDF3, GDF6, GNAS, GNPAT, GPC6, GPX4, HES7, HOXD13, HSPG2, IFITM5, IGF1, IGF1R, IHH, IMPAD1, INPPL1, LBR, LEPRE1, LFNG, LIFR, MEOX1, MESP2, MGP, MMP13, MNX1, MSX2, NEK1, NSDHL, OBSL1, OFD1, PEX7, PIK3R1, PLOD2, POLR1C, POLR1D, PPIB, PTH1R, RBM8A, RECQL4, ROR2, RUNX2, SALL4, SBDS, SERPINF1, SERPINH1, SF3B4, SHOX, SLC26A2, SLC35D1, SOX9, SP7, SRCAP, TBX15, TBX5, TBX6, TCOF1, TCTN3, TGDS, TRIM37, TRIP11, TRPS1, TRPV4, TWIST1, WDR35, WNT1, WNT3, SPARC, TENT5A, TMEM38B, MBTPS2, MYO18B, DDR2 und PEX5.

Skelettdysplasie Gen-Panel (291 Gene; bei komplexen Syndromen mit Skelettbeteiligung)
ACAN, ACP5, ACVR1, AGA, AGC1, AGPS, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANTXR2, ARHGAP31, ARSB, ARSE, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMP4, BMPER, BMPR1B, CA2, CANT1, CASR, CCDC8, CDC45, CDC6, CDH3, CDT1, CHST14, CHST3, CHSY1, CKAP2L, CLCN5, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRTAP, CUL7, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX5, DMP1, DOCK6, DVL1, DYM, DYNC2H1, EBP, EFNB1, EFTUD2, EIF2AK3, EOGT, EP300, ERF, ESCO2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, FAM58A, FBLN1, FBN1, FBN2, FGD1, FGF10, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FUCA1, FZD2, GALNS, GDF3, GDF5, GDF6, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GPC6, GPX4, GUSB, HDAC4, HDAC8, HES7, HGSNAT, HLXB9, HOXA11, HOXA13, HOXD10, HOXD13, HPGD, HSPG2, ICK, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IGF1, IGF1R, IHH, IMPAD1, INPPL1, KAT6B, KIF22, KIF7, LBR, LEPRE1, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LRP4, LRP5, LRP6, MAFB, MAGMAS, MANA, MANB, MATN3, MBTPS2, MEGF8, MEOX1, MESP2, MGP, MMP13, MMP2, MMP9, MNX1, MSX2, MYCN, MYO18B, NAGLU, NANS, NEK1, NEU1, NFIX, NIPBL, NKX3-2, NOG, NOTCH2, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P4HB, PAPSS2, PCNT2, PCYT1A, PDE4D, PEX5, PEX7, PHEX, PIGV, PIK3R1, PITX1, PLEKHM1, PLOD2, PLS3, POLR1C, POLR1D, POP1, POR, PORCN, PPGB, PPIB, PTDSS1, PTH1R, PTHLH, PTHR1, RAB23, RAB33B, RAD21, RANK, RBM8A, RBPJ, RECQL4, RMRP, RNU4ATAC, ROR2, RUNX2, SALL1, SALL4, SBDS, SEC24D, SEDL, SERPINF1, SERPINH1, SF3B4, SH3PXD2B, SHH-ZRS, SHOX, SKI, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SMAD3, SMAD4, SMARCAL1, SMC1A, SMC3, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SRCAP, SUMF1, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN3, TENT5A, TGDS, THPO, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TRIM37, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, VDR, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, WTX, XYLT1, XYLT2, ZAK und ZMPSTE24.