NGS Skelettdysplasie

Skelettdysplasie

Skelettdysplasie/IUGR Gen Panel (102 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, GH1, GHR, GHRHR, 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 und WNT3.

Skelettdysplasie Gen-Panel (231 Gene)
ACP5, ADAMTSL2, AGPS, ALPL, ALX4, AMER1, ANKH, ANO5, ARHGAP31, ARSE, ATP6V0A2, ATR, B3GALT6, B4GALT7, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CDC6, CDH3, CDKN1C, CDT1, CENPJ, CEP152, CEP290,, CEP63, CHST14, CHST3, CHST3,, CHSY1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRTAP, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DHCR24, DHCR7, DLL3, DLX3, DMP1, DYM, DYNC2H1, EBP, EFNB1, EIF2AK3, ENPP1, EP300, ESCO2, EVC, EVC2, EXT1, EXT2, FAM20C, FAM58A, FBLN1, FBN1, FBXW4, FERMT3, FGF10, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FMN1, FREM1, GALNT3, GDF3, GDF5, GDF6, GJA1, GLI3, GNAS, GNPAT, GORAB, GPC6, GREM1, GSC, HDAC4, HOXA11, HOXD13, HPGD, HSPG2, ICK, IFITM5, IFT122, IFT140, IFT43, IFT80, IHH, IL11RA, IMPAD1, INPPL1, KIF22, KIF7, LBR, LEMD3, LEPRE1, LIFR, LMBR1, LMNA, LMX1b, LRP4, LRP5, MAFB, MATN3, MGP, MKS1, MMP13, MMP2, MMP9, MSX2, MTAP, MYCN, NEK1, NIPBL, NKX3-2, NOG, NOTCH2, NPR2, NSDHL, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, PAPSS2, PCNT, PDE4D, PEX7, PHEX, PIGV, PITX1, PLEKHM1, PLOD2, POP1, POR, PPIB, PRKAR1A, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RASGRP2, RBBP8, RECQL4, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SERPINF1, SERPINH1, SF3B4, SH3PXD2B, SHH, SHOX, SKI, SLC25A12, SLC26A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLC9A3R1, SLCO2A1, SMARCAL1, SNX10, SOST, SOX9, SP7, SULF1, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TMEM216, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, VDR, WDR19, WDR35, WISP3, WNT10B, WNT3, WNT5A, WNT7A, XYLT1, ZMPSTE24