SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
GENES ANALISADOS
ABL1, ACAN, ACP5, ACVR1, ADAMTSL2, AGA, AGPS, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANO5, ARCN1, ARSB, ARSL, ASCC1, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C12orf57, CA2, CANT1, CASR, CCDC8, CCN6, CDC45, CDC6, CDKN1C, CDT1, CEP120, CHST11, CHST3, CHSY1, CILK1, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CRTAP, CTSA, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, ClCN5, DDR2, DDX58, DHCR24, DHODH, DIP2C, DLL3, DLX3, DLX5, DMP1, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDNRA, EFNB1, EFTUD2, EHHADH, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, FAM111A, FAM20C, FAM98C, FBLN1, FBN1, FERMT3, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FNDC3B, FUCA1, FZD2, GALNS, GDF3, GDF5, GDF6, GJA1, GLB1, GLI1, GLI3, GMNN, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GUSB, HDAC4, HDAC6, HES7, HGSNAT, HNF4A, HNRNPA1, HNRNPA2B1, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, INPPL1, INTU, IQCE, KAT6B, KIAA0586, KIF22, LBR, LEMD3, LFNG, LIFR, LMNA, LMX1B, LONP1, LRP4, LRP5, LTBP3, MAFB, MAN2B1, MAP3K20, MAP3K7, MATN3, MBTPS1, MBTPS2, MCM3, MCM5, MCM7, MECOM, MEOX1, MESP2, MMP13, MMP2, MMP9, MNX1, MSX2, MYH3, MYO18B, MYT1, NAGLU, NANS, NEK1, NEU1, NKX3-2, NOG, NOTCH2, NPR2, NSDHL, NT5E, NUDT6, OBSL1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCGF2, PCNT, PCYT1A, PDE4D, PEX5, PEX7, PHEX, PIK3C2A, PLEKHM1, PLOD2, PLS3, POLR1A, POP1, POR, PPIB, PPP3CA, PRG4, PRKAR1A, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, RAB33B, RBBP8, RECQL4, RIN1, RIPPLY2, RMRP, ROR2, RSPO2, RSPRY1, RUNX2, SBDS, SEC23A, SEC24D, SERPINF1, SERPINH1, SF3B4, SFRP4, SGSH, SH3PXD2B, SHOX, SIK3, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO5A1, SMAD4, SMARCAL1, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SQSTM1, SUCO, SULF1, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX6, TBXAS1, TCIRG1, TENT5A, TGFB1, TMCO1, TMEM256, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TRAPPC2, TREM2, TRIP11, TRIP4, TRPS1, TRPV4, TTC21B, TYROBP, UNC45A, VCP, VDR, WDR19, WDR35, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XYLT1, XYLT2, ZBTB16, ZMPSTE24, ZNF141, ZNF687, ZSWIM6