Bei den Skelettdysplasien handelt es sich um eine heterogene Gruppe genetischer Störungen, die das Skelettwachstum und die Knochenentwicklung beeinträchtigen. Diese seltenen genetischen Erkrankungen treten in unterschiedlichen Formen und Schweregraden auf. In den meisten Fällen sind Skelettdysplasien auf Mutationen in Genen zurückzuführen, die für die Bildung und Reifung von Knochen und Knorpel verantwortlich sind.
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Skelettdysplasie
- Material Nabelschnur-Blut (EDTA)
- Analysedauer
- 2-3 Wochen
- Gen Panels
- Skelettdysplasie Gen-Panel (663 Gene; bei komplexen Syndromen mit Skelettbeteiligung), ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1, ADI1, AFF3, AFF4, AGA, AGPS, AHI1, AIFM1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC2, ANKH, ANKRD11, ANO5, ANTXR1, ANTXR2, APC2, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSE, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, ATXN10, B3GALT6, B3GAT3, B3GLCT, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMP4, BMPER, BMPR1B, BVES, C21ORF2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC28B, CCDC39, CCDC40, CCDC8, CCN6, CCNQ, CD96, CDC45, CDC6, CDC73, CDH15, CDH23, CDH3, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP164, CEP290, CEP41, CFAP410, CFTR, CHST14, CHST3, CHSY1, CILK1, CKAP2L, CLCN5, CLCN7, CLRN1, COG1, COG4, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CORIN, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRIPT, CRLF1, CRTAP, CRX, CSF1R, CSGALNACT1, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, DACT1, DCC, DDR2, DDRGK1, DDX58, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DMTF1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAL1, DNMT3A, DOCK6, DOLPP1, DPAGT1, DPM1, DPM2, DPM3, DSE, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EDN1, EDNRA, EED, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENAM, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20B, FAM20C, FAM83H, FANCB, FANCC, FAR1, FBLIM1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FOXC1, FOXH1, FUCA1, FUZ, FZD2, GALNS, GALNT3, GCM2, GDF1, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GLIS2, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HAAO, HDAC4, HDAC5, HDAC8, HES7, HGSNAT, HHAT, HNRNPK, HOXA11, HOXA13, HOXD10, HOXD11, HOXD13, HPGD, HRAS, HSPA9, HSPG2, HYLS1, IARS2, ID4, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IFT88, IGF1, IGF1R, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, IMPDH1, INPPL1, INTU, INVS, IQCB1, KAT6B, KCNJ13, KCNJ2, KIAA0586, KIAA0753, KIF22, KIF7, KL, KMT2A, KMT2D, KYNU, LBR, LCA5, LEFTY2, LEMD3, LEPRE1, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MAN2C1, MANBA, MAP2K1, MAP3K20, MAP3K7, MASP1, MATN3, MBTPS2, MCM5, MECOM, MEGF8, MEOX1, MESP2, MET, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MRPL13, MSX2, MTAP, MYCN, MYH3, MYO18B, MYO7A, NAGLU, NANS, NBAS, NEK1, NEK8, NEK9, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NPR3, NPRL2, NPRL3, NRAS, NSD1, NSDHL, NSMCE2, NXN, OAT, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIN1, PIR, PISD, PITX1, PKD2, PKHD1, PLCB3, PLCB4, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLE, POLR1A, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PORCN, PPIB, PRKAR1A, PRKD2, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, PYDC1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIPPLY2, ROR2, RORA, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL13, RSPH4A, RSPH9, RSPO2, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC24D, SEM1, SERPINA2, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFI1, SFRP4, SGMS2, SGSH, SH3BP2, SH3D19, SH3PXD2B, SHH, SHH-ZNS, SHOX, SKI, SLC10A7, SLC17A5, SLC25A15, SLC25A23, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SLTM, SLURP1, SMAD2, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SRCAP, SRP54, STAMBP, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDP2, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TONSL, TOPORS, TP63, TRAF3IP1, TRAIP, TRAPPC2, TREM2, TRIM32, TRIM37, TRIP11, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TTC21B, TTC8, TULP1, TWIST1, TYROBP, UFSP2, UMOD, USH1C, USH1G, USH2A, USP9X, VAC14, VDR, VHL, VIPAS39, VPS33A, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, WNT1, WNT10B, WNT3, WNT5A, WNT6, WNT7A, WRN, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC3, ZMPSTE24, ZNF423, ZSWIM6
- Ansprechpartner PD Dr. med. Moneef Shoukier
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