Oftalmologia

Retinopatia

Lista de Genes
ABCA4, ABHD12, ADAM9, ADGRA3, ADGRV1, AGBL5, AIPL1, ALMS1, ARL2BP, ARL3, ARL6, ARSG
BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1
C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CDHR1, CEP250, CEP290, CEP78, CERKL, CFAP418, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL18A1, CRB1, CRX, CWC27, CYP4V2
DHDDS, DHX38, DTHD1
EFEMP1, ELOVL4, EMC1, ESPN, EYS
FAM161A, FLVCR1, FSCN2
GNAT2, GNPTG, GUCA1A, GUCA1B, GUCY2D
HARS1, HGSNAT, HK1
IDH3A, IDH3B, IFT140, IFT172, IFT27, IMPDH1, IMPG2, INPP5E, INVS, IQCB1
KCNJ13, KCNV2, KIAA1549, KIZ, KLHL7
LCA5, LRAT, LZTFL1
MAK, MERTK, MFRP, MKKS, MKS1, MYO7A
NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL
OFD1, OPN1LW
PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2
RAB28, RAX2, RBP3, RBP4, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L
SAG, SCAPER, SDCCAG8, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2
TOPORS, TRIM32, TRNT1, TTC8, TTLL5, TTPA, TUB, TULP1
UNC119, USH1C, USH1G, USH2A
WDPCP, WFS1, WHRN
ZNF408, ZNF513
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido