Oftalmologia

Anomalias do cristalino incluindo cataratas congénitas

Lista de Genes
ABCA3, ABHD12, ABHD5, ADAMTS10, ADAMTS17, ADAMTSL4, AGK, AGPS, AKR1E2, ALDH18A1, ATOH7
BCOR, BFSP1, BFSP2
CAPN15, CAV1, CBS, CHMP4B, CHRDL1, CLPB, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP1B1, CYP27A1, CYP51A1
DHCR7, DNAJB1
EBP, EIF2B2, EPG5, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, EYA1
FAM126A, FAR1, FBN1, FKRP, FKTN, FOXD3, FOXE3, FTL, FYCO1
GALK1, GALT, GBA2, GCNT2, GFER, GJA1, GJA3, GJA8, GNPAT, GTF2H5
HMX1, HSF4
JAM3
LAMB2, LARGE1, LIM2, LONP1, LRP2, LSS, LTBP2
MAF, MAN2A1, MAN2B1, MED25, MFSD6L, MIP, MVK, MYH9
NDP, NECTIN3, NF2, NHS
OAT, OCRL, OPA3, OTX2
P3H2, PAX6, PEX1, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX6, PEX7, PITX2, PITX3, POMGNT1, POMT1, POMT2, PXDN
RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RGS6, RNLS
SC5D, SEC23A, SIL1, SIPA1L3, SIX1, SIX5, SLC16A12, SLC24A5, SLC2A1, SLC33A1, SRD5A3, SREBF2
TBC1D20, TDRD7, TFAP2A, TMEM114, TMEM70, TRAPPC11, TRPM3
UNC45B
VIM, VSX2
WFS1, WRN
XYLT2
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída