Skelettdysplasien, umfassende Diagnostik : 407 Gene (969,572 kb)

ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, AFF3, AGA, AGPS, ALG3, ALG9, ALG12, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARL6, ARSB, ARSL, ASXL1, ASXL2, ATP6V0A2, ATP7A, B3GAT3, B3GLCT, B4GALT7, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CCNQ, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST3, CHST14, CHSY1, CILK1, CLCN5, CLCN7, COG1, COG4, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COLEC11, COMP, COPB2, CREB3L1, CREBBP, CRTAP, CSGALNACT1, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP2R1, CYP27B1, DDR2, DHCR7, DHCR24, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DMP1, DNMT3A, DOCK6, DPAGT1, DPM1, DVL1, DVL2, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EED, EFTUD2, EIF2AK3, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM20C, FAM111A, FBN1, FBN2, FERMT3, FGF10, FGF16, FGF23, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GSC, GUSB, GZF1, HDAC8, HES7, HGSNAT, HHAT, HOXD13, HPGD, HS2ST1, HSPG2, IDH1, IDS, IDUA, IFIH1, IFITM5, IFT43, IFT52, IFT80, IFT81, IFT122, IFT140, IFT172, IHH, IL1RN, IL11RA, INPPL1, KAT6B, KDELR2, KIAA0753, KIF7, KIF22, KMT2D, LBR, LEMD3, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP3, MAFB, MAN2B1, MAP3K7, MASP1, MATN3, MBTPS1, MEGF8, MEOX1, MESD, MESP2, MGP, MKKS, MKS1, MMP2, MMP13, MPDU1, MSX2, MTX2, MYCN, MYH3, MYO18B, NAGLU, NANS, NBAS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPR2, NPR3, NSD1, NSDHL, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGT, PIGV, PIK3C2A, PIK3R1, PISD, PITX1, PKDCC, PLOD2, PLS3, POC1A, POLR1A, POLR1B, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RASGRP2, RBM8A, RBPJ, RECQL4, RFT1, RINT1, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCARF2, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC39A13, SLCO2A1, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, STT3A, SUMF1, TALDO1, TAPT1, TBCE, TBX3, TBX4, TBX5, TBX6, TBX15, TBXAS1, TCIRG1, TCOF1, TCTN2, TCTN3, TENT5A, TERT, TGFB1, TGFB2, TGFBR2, TMCO1, TMEM38B, TMEM165, TMEM216, TMEM231, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC8, TTC21B, TWIST1, TYROBP, UFSP2, UNC45A, VDR, WBP11, WDPCP, WDR19, WDR35, WNT1, WNT5A, WNT7A, WNT10B, XRCC4, XYLT1, XYLT2, YY1, ZMPSTE24, ZNF687, ZSWIM6