Oftalmologia

Oftalmoexoma

Lista de Genes
ABCA4, ABCB6, ABCC6, ABHD12, ACBD5, ACO2, ACTB, ACTG1, ADAM9, ADAMTS10, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1, AGBL1, AGBL5, AGK, AGPS, AHI1, AIPL1, ALDH18A1, ALDH1A3, ALG3, ALMS1, AP3B1, APOA1, ApoE, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARR3, ARSG, ATF6, ATOH7, ATXN7
B3GLCT, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, BMP7, BRPF1
C12orf57, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CAV1, CBS, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFAP418, CFH, CFHR1, CFHR3, CFI, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2, CISD2, CLDN19, CLN3, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL25A1, COL2A1, COL4A1, COL8A2, COL9A1, CPLANE1, CRB1, CRIM1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNB1, CTNS, CWC27, CYP1B1, CYP27A1, CYP4V2, CYP51A1
DCN, DGUOK, DHCR7, DHDDS, DHX38, DIAPH1, DNA2, DNM1L, DPYD, DRAM2, DTHD1, DTNBP1
EFEMP1, ELOVL4, ELP4, EMC1, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, ESPN, EXOSC2, EYA1, EYS
FADD, FAM111A, FAM126A, FAM161A, FBLN5, FBN1, FBN2, FDXR, FLVCR1, FNBP4, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, FZD5
GALK1, GALT, GCNT2, GDF3, GDF6, GFER, GJA1, GJA3, GJA8, GNAT1, GNAT2, GNB3, GNPTG, GP1BA, GPR143, GPR179, GRIP1, GRK1, GRM6, GSN, GUCA1A, GUCA1B, GUCY2D, GZF1
HARS1, HCCS, HDAC6, HESX1, HGSNAT, HK1, HMCN1, HMGB3, HMX1, HOXA1, HOXB1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA1
IARS2, IDH3A, IDH3B, IFT140, IFT172, IFT27, IGBP1, IGFBP7, IGSF3, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, INVS, IQCB1, ITM2B
JAG1, JAM3
KAT6B, KCNJ13, KCNV2, KERA, KIAA1549, KIF11, KIF21A, KIF7, KIZ, KLC2, KLHL7, KMT2D, KRIT1, KRT12, KRT3
LAMB2, LCA5, LCAT, LEMD2, LIM2, LMX1B, LRAT, LRIT3, LRMDA, LRP2, LRP5, LRPAP1, LSS, LTBP2, LZTFL1
MAB21L2, MAF, MAK, MAN2B1, MAPKAPK3, MC1R, MECR, MERTK, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MMP19, MSMO1, MTRFR, MTTP, MVK, MYH2, MYH9, MYO7A, MYOC
NAA10, NACC1, NDP, NEK2, NEUROD1, NF2, NHS, NMNAT1, NOTCH2, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUTF2, NYX
OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OTX2, OVOL2
P3H2, P4HA2, PANK2, PAX2, PAX3, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHOX2A, PHYH, PIGL, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PMM2, PNPLA6, POC1B, POLG, POLG2, POLR1C, POLR1D, POMGNT1, PORCN, PQBP1, PRCD, PRDM5, PRIMPOL, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRSS56, PTCH1, PXDN
RAB18, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, RNASEH1, ROBO3, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, RYR1
SAG, SALL1, SALL2, SALL4, SC5D, SCAPER, SCLT1, SCO2, SDCCAG8, SEC23A, SEMA3E, SEMA4A, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A4, SLC2A1, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC4A4, SLC7A14, SLITRK6, SMCHD1, SMOC1, SNRNP200, SOX2, SPATA7, SPG7, SPP2, SRD5A3, STN1, STRA6
TACSTD2, TBC1D20, TBC1D32, TBX22, TCF4, TCOF1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFB2, TGFBI, TIMM8A, TIMP3, TK2, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM98, TMX3, TOPORS, TREX1, TRIM32, TRIM44, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TTR, TUB, TUBB3, TUBB6, TUBGCP4, TUBGCP6, TULP1, TWNK, TYR, TYRP1
UBE3B, UBIAD1, UNC119, UNC45B, USH1C, USH1G, USH2A
VAX1, VCAN, VIM, VPS13B, VSX1, VSX2
WDPCP, WDR19, WDR36, WFS1, WHRN, WRN
XYLT2
YAP1, YME1L1
ZEB1, ZEB2, ZIC2, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644
120 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída