Patologias sindromáticas/polimalformativas

Fenda labial e palatina

Lista de Genes
ACTB, ACTG1, ALX1, ALX3, AMER1, ARCN1, ARHGAP29, ARHGAP31, ASXL1, ATR
B3GALT6, B3GAT3, B3GLCT, B4GALT7, BCOR, BMP2, BMP4, BMPER, BPNT2, BUB1B
C2CD3, CC2D2A, CCDC32, CD96, CDC45, CDH1, CDKN1C, CDON, CENPF, CEP120, CHD7, CHRNA1, CHRND, CHRNG, CHST14, CHSY1, CHUK, CILK1, CNOT2, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COLEC10, COLEC11, CPLANE1, CTCF, CTNND1, CYP26C1
DDX3X, DDX59, DHCR24, DHCR7, DHODH, DLG1, DLX4, DNMT3B, DVL1, DVL3, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B
ECEL1, EDNRA, EFNB1, EFTUD2, EIF2S3, EIF4A3, EMG1, EMX2, EPG5, ESCO2, EVC, EVC2, EYA1
FAM149B1, FAM20C, FANCL, FEZF1, FGD1, FGF17, FGF8, FGFR1, FGFR2, FLNA, FOXC2, FOXE1, FRAS1, FTO, FZD2
GABRB3, GAD1, GDF11, GDF6, GJA1, GLI2, GLI3, GMNN, GMPPB, GNAI3, GNB1, GNRH1, GNRHR, GPC3, GRHL3
HAAO, HDAC8, HNRNPK, HOXA2, HPGD, HS2ST1, HS6ST1, HSPG2, HYAL1, HYLS1
IFT140, IFT172, IFT43, IFT52, IFT57, IFT80, IFT81, IL17RD, INTU, IRF6
KANSL1, KAT5, KAT6A, KAT6B, KATNIP, KCNJ2, KCNK9, KDM1A, KDM6A, KIAA0586, KIF7, KISS1, KLHL41, KMT2D, KRAS
MAP3K7, MAPRE2, MASP1, MBTPS2, MED12, MED25, MEGF10, MEIS2, MEOX1, METTL23, MID1, MKS1, MPDZ, MSX1, MSX2, MUSK, MYL11, MYMK
NBN, NEB, NECTIN1, NEDD4L, NEK1, NFASC, NIPBL, NRAS, NSDHL, NSMF, NUP107, NUP188, NXN
OFD1, ORC1
PAX3, PEX2, PEX7, PGAP2, PGM1, PHF8, PHGDH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3R2, POLR1A, POLR1B, POLR1C, POLR1D, POMT1, POMT2, PORCN, PPP3CA, PQBP1, PROK2, PRRX1, PSAT1, PTCH1, PTCH2
RAD21, RAI1, RBM10, RBM8A, RECQL4, RIC1, RIPK4, ROR2, RPGRIP1L, RPL11, RPL5, RPS19, RPS23, RPS26, RPS28, RSPO2, RUNX2
SATB2, SCARF2, SCUBE3, SEC23A, SEC61A1, SELENOI, SEMA3A, SEMA3E, SEPTIN9, SETD1B, SF3B4, SHH, SIX3, SKI, SLC10A7, SLC26A2, SLC35D1, SMAD3, SMAD4, SMC1A, SMC3, SMCHD1, SMG9, SMO, SMOC1, SMPD4, SMS, SNRPB, SON, SOX2, SOX9, SPECC1L, SPOP, SPRY4, STAG2, STAMBP, SUMO1
TACR3, TAPT1, TBX1, TBX15, TBX2, TBX22, TCOF1, TCTN2, TCTN3, TFAP2A, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TMCO1, TMEM67, TNNI2, TOGARAM1, TP63, TRAPPC9, TRRAP, TTC21B, TUBB, TWIST1, TXNL4A
VAX1
WASHC5, WDPCP, WDR19, WDR35, WNT3, WNT4, WNT5A, WNT7A
XYLT1
YAP1
ZEB2, ZIC2, ZIC3, ZMPSTE24, ZNF462, ZSWIM6
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido