SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
GENES ANALISADOS
ACTB, ACTG1, ALMS1, AMER1, ANKRD11, ARHGAP31, ARID1B, ARL6, ASXL1, ATR, B3GALTL, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BLM, BRAF, C2CD3, C5orf42, CBL, CC2D2A, CDC6, CDKN1C, CDT1, CENPJ, CEP152, CEP290, CEP63, CHD1, CHD7, CHRNG, CHST14, COL11A1, COL11A2, COL2A1, COL9A1, COLEC11, CREBBP, CTCF, CTNND1, DHCR7, DHODH, DLL4, DOCK6, DVL1, DYNC2H1, EBP, EDN3, EDNRA, EDNRB, EFNB1, EFTUD2, EIF2S3, EIF4A3, ELP4, EOGT, EP300, EPG5, ERCC8, ESCO2, EYA1, EZH2, FAM20C, FBN2, FGD1, FGF10, FGF3, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FOXC2, FOXL2, FRAS1, GATA3, GCM2, GJA1, GLE1, GLI3, GNAI3, GNAS, GPC3, GPR143, GRHL3, GSC, HDAC8, HMX1, HRAS, HSPA9, HYLS1, ICK, IFT140, IFT172, IFT80, IMPAD1, IRF6, JAG1, KAT6A, KCNJ2, KDM6A, KIAA1279, KIF7, KMT2A, KMT2D, KRAS, LMNA, LMX1B, LZTFL1, MAP2K1, MAP2K2, MAPRE2, MASP1, MBTPS2, MEIS2, MID1, MITF, MKKS, MKS1, MSX1, MYBPC1, MYH3, MYH8, NEDD4L, NEK1, NF1, NFIX, NIPBL, NOTCH1, NOTCH2, NRAS, NRXN1, NSD1, OCA2, OFD1, ORC1, ORC4, ORC6, OTX2, PAX3, PAX6, PHF6, PHF8, PIEZO2, PIGN, PIGV, PLCB4, POLR1C, POLR1D, PORCN, PTCH1, PTH, PTPN11, RAD21, RAF1, RASA1, RBBP8, RBM10, RECQL4, RIT1, ROR2, RPL5, RPS26, RPS6KA3, SALL1, SALL4, SATB2, SCARF2, SDCCAG8, SEPT9, SF3B4, SHH, SHOC2, SIX1, SIX3, SIX5, SKI, SLC26A2, SLC26A4, SLC45A2, SMAD3, SMAD4, SMC1A, SMC3, SMS, SNAI2, SNRPB, SOS1, SOX10, SOX9, SPECC1L, SPRED1, SRCAP, STAMBP, STX16, TBCE, TBX22, TBX5, TCF4, TCOF1, TCTN3, TELO2, TFAP2A, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1, TMEM67, TNNI2, TNNT3, TP63, TRAPPC9, TRIM32, TRIM37, TTC8, TUBB, TXNL4A, TYR, TYRP1, VIPAS39, VPS13B, VPS33B, WDPCP, WNT5A, WRN, XYLT1, ZEB2, ZIC2, ZIC3 e ZSWIM6.