Test 136.
Skeletal dysplasias
Mutations in panel of 597 genes
ABCC9, ABL1, ACAN, ACP5, ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL1, ADAMTSL2, AGA, AGPS, AIFM1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARID1A, ARID1B, ARID2, ARSB, ARSE, ARSL, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BBOF1, BCS1L, BGN, BHLHA9, BMP1, BMP2, BMP4, BMPER, BMPR1B, BPNT2, BRAF, C2CD3, C3orf22, CA2, CANT1, CASR, CBL, CC2D2A, CCBE1, CCDC8, CCN6, CCNQ, CD96, CDC45, CDC6, CDH3, CDKN1C, CDT1, CENPE, CENPJ, CEP120, CEP152, CEP290, CEP63, CFAP410, CHD7, CHRNG, CHST14, CHST3, CHSY1, CILK1, CKAP2L, CLCN5, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COLEC11, COMP, COPS3, CPLANE1, CREB3L1, CREBBP, CRTAP, CSGALNACT1, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, CYP3A4, DCC, DDR2, DDRGK1, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DMRT2, DNA2, DNAH10, DNAJC21, DNMT3A, DOCK6, DONSON, DPF2, DPM1, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDN1, EDNRB, EED, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENAM, ENPP1, EOGT, EP300, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EYA1, EZH2, FAM111A, FAM20A, FAM20C, FAM58A, FAM83H, FANCB, FANCC, FAT4, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF3, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FOXC1, FREM1, FUCA1, FUZ, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GH1, GHR, GHRHR, GJA1, GLB1, GLI1, GLI2, GLI3, GMNN, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC4, GPC6, GPX4, GREM1, GSC, GUSB, GZF1, HDAC4, HDAC6, HDAC8, HES7, HESX1, HGSNAT, HNRNPK, HOXA11, HOXA13, HOXD10, HOXD13, HOXD8, HPGD, HRAS, HSPA9, HSPG2, HYAL1, IARS2, ICK, IDH1, IDH2, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT57, IFT80, IFT81, IGF1, IGF1R, IGFALS, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, INPPL1, INSR, INTU, IQCE, IRS1, IRX5, JAG1, KAT6A, KAT6B, KDELR2, KDM6A, KIAA0586, KIAA0753, KIAA0825, KIF14, KIF22, KIF24, KIF7, KMT2A, KMT2D, KRAS, LARP7, LBR, LEMD3, LEPRE1, LFNG, LHX3, LHX4, LIFR, LMBR1, LMNA, LMOD3, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP2, LTBP3, LZTR1, MAFB, MAN2B1, MANBA, MAP2K1, MAP2K2, MAP3K7, MAPKAPK5, MASP1, MATN3, MBTPS1, MBTPS2, MECOM, MEGF8, MEOX1, MESD, MESP2, MET, MGP, MIR17HG, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYH3, MYO18B, NAA10, NAGLU, NANS, NBAS, NEK1, NEPRO, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPHP3, NPPC, NPR2, NRAS, NSD1, NSDHL, NTRK1, NXN, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, OTX2, P3H1, P4HB, PAM16, PAN2, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX5, PEX7, PGM3, PHEX, PHF21A, PHGDH, PIGT, PIGV, PIK3CA, PIK3R1, PISD, PITX1, PITX2, PJA1, PLCB3, PLCB4, PLEKHM1, PLK4, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, POU1F1, PPIB, PRKAR1A, PRKG2, PRMT7, PROP1, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAC3, RAD21, RAF1, RASA2, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RFT1, RIN1, RIPPLY2, RIT1, RMRP, RNU4ATAC, ROR2, RPA1, RPGRIP1L, RRAS, RSPRY1, RTTN, RUNX2, SALL1, SALL4, SBDS, SCARF2, SEC23A, SEC24D, SEMA3E, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOC2, SHOX, SIX1, SIX5, SKI, SLC10A7, SLC17A5, SLC25A12, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLC9A3R1, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMAD6, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOS1, SOST, SOX10, SOX11, SOX2, SOX3, SOX6, SOX9, SP7, SPARC, SPECC1L, SRCAP, SRP54, STAMBP, STAT3, STAT5B, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX19, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN2, TCTN3, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM107, TMEM165, TMEM185A, TMEM216, TMEM231, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TP63, TRAIP, TRAPPC2, TREM2, TRIM37, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TWIST1, TWIST2, TXNL4A, TYROBP, VDR, VIPAS39, VPS33A, WASHC5, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT3A, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, YY1, YY1AP1, ZEB2, ZFHX2, ZIC1, ZMPSTE24, ZNF141, ZSWIM6