Patologias sindromáticas/polimalformativas

Macrocefalia

Lista de Genes
AKT1, AKT2, AKT3, ASPA, ASXL2
BMP4, BRWD3
CACNA1E, CCND2, CDKN1C, CHD3, CHD4, CHD8, CUL4B
DHCR24, DIS3L2, DNMT3A, DPH2
EED, EIF2B5, EZH2
GFAP, GLI3, GNAQ, GPC3, GPSM2, GRIA3, GRIN2B
HEPACAM, HERC1, HUWE1
KIF7, KPTN, KRAS
L1CAM
MED12, MLC1, MPDZ, MTOR
NF1, NFIB, NFIX, NKX3-2, NSD1
OFD1
PAK1, PHF6, PIGA, PIK3CA, PIK3R2, PPP2R5D, PTCH1, PTEN
RAB39B, RNF125, RNF135
SETD2, SNX14, SOS1, SOS2, STRADA, SYN1
TBC1D7
UPF3B
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido