Patologias sindromáticas/polimalformativas

Anomalias craniofaciais

Lista de Genes
ADAMTSL4, ALX1, ALX3, ALX4, AMELX, ANKRD11, ARHGAP29, AXIN2
BCOR, BMP2, BMP4
CDC45, CDC6, CDON, CDSN, CDT1, CHD7, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, CTSK
DHODH, DISP1, DLX3, DLX4, DSPP
EDA, EDAR, EDARADD, EDN1, EDNRA, EFNA4, EFNB1, EFTUD2, EIF4A3, ENAM, ERF, EYA1, EZH2
FAM83H, FANCB, FGD1, FGF10, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FOXC1, FOXE1
GDF3, GDF6, GJA1, GJB6, GLI2, GLI3, GNAI3, GRHL3
HOXA2, HUWE1, HYAL2
IFT122, IFT43, IFT88, IKBKG, IL11RA, IRF6
KAT6B, KDM1A, KDM6A, KLK4, KMT2D, KREMEN1
LRP2, LRP6, LTBP3
MASP1, MED12, MEGF8, MEOX1, MID1, MITF, MMP20, MSX1, MSX2
NAA10, NECTIN1, NFKBIA, NIPBL, NOG, NSD1
ODAPH, OFD1, OTX2
PAX3, PAX6, PAX7, PAX9, PDE4D, PITX2, PLCB4, POLR1B, POLR1C, POLR1D, PORCN, PRKAR1A, PTCH1, PTH1R
RAB23, RAD21, RECQL4, RPS26, RUNX2
SALL1, SALL4, SATB2, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SLC25A24, SMAD6, SMC1A, SMC3, SMOC2, SNAI2, SOX10, SOX6, SPECC1L, SUMO1
TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2, TGIF1, TP63, TRAF6, TSHZ1, TWIST1
UBB
VAX1
WDR19, WDR35, WDR72, WNT10A
ZEB2, ZIC1, ZIC2
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido