Displasias óseas hereditarias
Catálogo: Catálogo genética médica con informe
Referencia: LV4960
Especialidad: Displasias óseas
Secuenciación masiva y cribado bioinformático de CNVs, panel de 514 genes: ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AFF3, AGA, AGPS, AIFM1, ALG12, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC1, ANKH, ANKRD11, ANO5, ANTXR2, APC2, ARCN1, ARHGAP31, ARID1A, ARID1B, ARID2, ARSB, ARSL, ASXL1, ATP6V0A2, ATR, B3GALT6, B3GAT3, B3GLCT, B4GALT7, BANF1, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, BTRC, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC134, CCDC8, CCN6, CCNQ, CDC45, CDC6, CDH3, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP290, CFAP410, CHST14, CHST3, CHSY1, CILK1, CKAP2L, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COPB2, CPLANE1, CREB3L1, CREBBP, CRIPT, CRTAP, CSF1R, CSGALNACT1, CSPP1, CTSA, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DDRGK1, DDX59, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNAJC21, DNMT3A, DOCK6, DPCD, DPF2, DPM1, DSE, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, EBP, EDN1, EDNRA, EED, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENPP1, EOGT, EP300, ERF, ESCO2, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, FAR1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FMN1, FN1, FUCA1, FZD2, GALNS, GALNT3, GCM2, GDF3, GDF5, GDF6, GJA1, GLB1, GLI1, GLI2, GLI3, GMNN, GNAI3, GNAS, GNPAT, GNPNAT1, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC4, GPC6, GPX4, GREM1, GSC, GUSB, GZF1, HAAO, HDAC4, HDAC8, HES7, HGSNAT, HHAT, HOXA11, HOXA13, HOXD13, HPGD, HRAS, HS2ST1, HSPA9, HSPG2, HYAL1, HYLS1, IARS2, ID4, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IL11RA, IL1RN, INPPL1, INTU, IRX5, KAT6B, KCNJ2, KDELR2, KIAA0586, KIAA0753, KIF22, KIF7, KL, KMT2D, KYNU, LBR, LBX1, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP2, LTBP3, MAFB, MAN2B1, MANBA, MAP2K1, MAP3K20, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MCM5, MECOM, MEGF8, MEOX1, MESD, MESP2, MET, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MTAP, MTX2, MYCN, MYH3, MYO18B, NADSYN1, NAGLU, NANS, NBAS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSDHL, NSMCE2, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PDGFRB, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGO, PIGV, PIGY, PIK3C2A, PIK3R1, PISD, PITX1, PKDCC, PLCB3, PLCB4, PLEKHM1, PLOD2, PLS3, POC1A, POLE, POLL, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PPIB, PPP1CB, PRDM5, PRKAR1A, PRKG2, PRMT7, PSAT1, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RIGI, RINT1, RIPPLY2, RMRP, ROR2, RPGRIP1L, RPL13, RSPO2, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SCARF2, SCUBE3, SDC2, SEC23A, SEC24D, SERPINF1, SERPINH1, SETD2, SETD5, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIX2, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMAD6, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SMS, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SPECC1L, SQSTM1, SRP54, SUCO, SULF1, SUMF1, SUZ12, TAB2, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1,TCTEX1D2, TCF12, TCIRG1, TCOF1, TCTN3, TENT5A, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM107, TMEM165, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TP63, TRAF3IP1, TRAIP, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TWIST1, TYROBP, UFSP2, VAC14, VDR, VPS33A, WDPCP, WDR19, WDR35, WNT1, WNT10B, WNT3, WNT5A, WNT6, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZIC1, ZMIZ1, ZMPSTE24, ZNF687, ZSWIM6
