Cranio-NGS

Doenças esqueléticas / craniofaciais - sequenciamento - 438 genes

Painel completo - Sequenciamento 438 genes previamente associados a disturbios esqueléticos ou doenças ósseas , tais como anomalias de coanas, síndromes de craniosinostoses (síndrome de Crouzon, síndrome de Apert, síndrome de Saethre-Chotzen), osteogênese imperfeita, osteopetrose, acondroplasia, hipocondroplasia, anomalias de membros, displasias esqueléticas, displasia espôndilo-epifisária congênita, síndrome de Stickler, entre outras.

ABCC9, ACAN, ACP4, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMBN, AMELX, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARL6, ARSB, ARSE, ARSK, ASXL1, ASXL2, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B3GLCT, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BRAF, C21orf2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC134, CCDC8, CCNQ, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CHD7, CHST14, CHST3, CHSY1, CLCN5, CLCN7, CNNM4, COG1, COL10A1, COL11A1, COL11A2, COL17A1, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CTNND1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, DDR2, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DMP1, DNMT3A, DOCK6, DPAGT1, DPM1, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EED, EFNB1, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM46A, FAM83H, FBN1, FBN2, FERMT3, FGF10, FGF16, FGF23, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FOXE1, FUCA1, FZD2, GALNS, GALNT3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPR68, GSC, GUSB, GZF1, HDAC8, HES7, HGSNAT, HOXA13, HOXD13, HPGD, HSPG2, HUWE1, HYAL1, HYLS1, ICK, IDH1, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, INPPL1, ITGB6, JAG1, KAT6A, KAT6B, KDELR2, KIAA0586, KIAA0753, KIF22, KIF7, KLK4, KMT2D, KRAS, LAMA3, LAMB3, LBR, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LTBP3, MAFB, MAN2B1, MAP3K7, MASP1, MATN3, MBTPS2, MEGF8, MEOX1, MESD, MESP2, MGP, MKKS, MKS1, MMP13, MMP2, MMP20, MNX1, MPDU1, MSX2, MYCN, NAGLU, NANS, NBAS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPR2, NSD1, NSDHL, OBSL1, ODAPH, OFD1, ORAI1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PEX1, PEX5, PEX6, PEX7, PGM3, PHEX, PHGDH, PIGT, PIGV, PIK3C2A, PIK3R1, PITX1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RASGRP2, RBM8A, RBPJ, RECQL4, RELT, RFT1, RIPPLY2, RMRP, ROGDI, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCARF2, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SFRP4, SGSH, SH3BP2, SH3PXD2B, SHOX, SKI, SLC10A7, SLC13A5, SLC17A5, SLC24A4, SLC25A24, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC39A13, SLCO2A1, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMO, SMOC1, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SPECC1L, SPINT2, STAT3, STIM1, SUMF1, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN2, TCTN3, TERT, TFAP2B, TGFB1, TGFB2, TGFBR1, TGFBR2, TLK2, TMCO1, TMEM165, TMEM216, TMEM231, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TTC8, TWIST1, TXNL4A, TYROBP, USP9X, VDR, WDPCP, WDR19, WDR34, WDR35, WDR60, WDR72, WISP3, WNT1, WNT10B, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZEB2, ZIC1, ZMPSTE24, ZSWIM6

40503801

40 a 60 dias úteis

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