Oftalmologia

Microftalmia/ anoftalmia/ coloboma

Lista de Genes
ABCB6, ACTB, ACTG1, ALDH1A3
BCOR, BMP4
CHD7
ERCC1, ERCC2, ERCC5, ERCC6
FOXE3, FOXL2, FRAS1, FREM1, FREM2
GDF3, GDF6, GJA1, GRIP1
HCCS, HMGB3, HMX1
MAB21L2, MFRP
NAA10, NDP
OCRL, OTX2
PAX2, PAX6, PRSS56
RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4
SALL2, SHH, SIX3, SIX6, SMOC1, SOX2, STRA6
TBC1D20, TENM3, TFAP2A
VAX1, VSX2
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido