NGS Skeletal Dysplasias

NGS Skeletal Dysplasias

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.



  • How to order
    Order Form

    Place your order by email molekulargenetik@praenatal-medizin.de

  • Turnaround time
    2-3 weeks

  • Contact
    Priv.-Doz. Dr. med. M. Shoukier
    Dr. rer. nat. C. Bagowski molekulargenetik@praenatal-medizin.de

    Phone: +49 89 130744-0
    Fax: +49 89 130744-99

  • Ship the sample to our laboratory
    Material: DNA, Blood, Dried blood spot, Buccal swab, Chorionic villi (CVS), Amniotic fluid

    Shipping address:
    Pränatal-Medizin München
    Lachnerstr. 20
    80639 München
    Germany


  • Order specimen kit with sample tube, requisition form and prepaid return envelope by email.