🧬 Genes analisados
Sequenciamento completo de todas as regiões codificantes e regiões flanqueadoras adjacentes aos exons de 311 genes relacionados a doenças oftalmológicas: ABHD12, ACO2, ACTB, ACTG1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, AGK, AHI1, AIPL1, ALDH18A1, ALDH1A3, ALMS1, ARL2BP, ARL6, ATF6, ATOH7, B3GALT1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BMP4, C10orf11, C12orf57, C1QTNF5, C21orf2, C2orf71, C8orf37, CA4, CABP4, CACNA1A, CACNA1F, CAPN5, CDH23, CDH3, CDHR1, CEP164, CEP78, CERKL, CHD7, CHMP4B, CHRDL1, CHST6, CIB2, CLDN19, CLN3, CLRN1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL2A1, COL4A1, COL8A2, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CSPP1, CTNNB1, CYP1B1, CYP27A1, CYP4V2, DCN, DHCR7, DHDDS, EFEMP1, ELOVL4, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, EYS, FAM126A, FAM161A, FLVCR1, FOXC1, FOXD3, FRAS1, FREM1, FREM2 FRMD7 FTL FYCO1 FZD4 GALK1 GALT GCNT2 GJA1 GJA3 GJA8 GNAT1 GNAT2 GNPAT GNPTG GPR143 GPR179 GPR98 GRIP1, GRM6, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HGSNAT, HMX1, HSF4, HTRA2, IDH3B, IFT140, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, IQCB1, JAM3, KCNJ13, KCNV2, KERA, KIF11, KLHL7, KRT12, KRT3, LCA5, LIM2, LRAT, LRIT3, LRP5, LTBP2, LYST, LZTFL1, MAB21L2, MAK, MAN2B1, MERTK, MFN2, MFRP, MIP, MKKS, MKS1, MSMO1, MYH9, MYO7A, MYOC, NDP, NF2, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2F1, NRL, NYX, OAT, OCA2, OCRL, OPA1, OPA3, OTX2, PANK2, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PIK3R1, PIKFYVE, PITX2, PITX3, PLA2G5, PORCN, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PUF60, PXDN, RAB18, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RHO, RLBP1, RP1, RP1L1, RP2, RP9, RPE65, RPGRIP1, RPGRIP1L, RS1, SAG, SALL4, SCAPER, SDCCAG8, SEMA4A, SHH, SIL1, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC45A2, SLC4A11, SLC52A2, SMO, SMOC1, SNRNP200, SOX2, SPATA7, SRD5A3, STRA6, TACSTD2, TBC1D20, TDRD7, TFAP2A, TGFBI, TIMP3, TMEM237, TMEM98, TOPORS, TRIM32, TRPM1, TSPAN12, TTC8, TUB, TULP1, TYR, TYRP1, UBIAD1, USH1C, USH1G, USH2A, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WFS1, WRN, YAP1, ZEB1, ZNF408, ZNF423, ZNF469.Testagem familiar gratuitaDisponível para até 6 familiares consanguíneos.**Caso o resultado do exame apresente alterações patogênicas ou provavelmente patogênicas, disponibilizamos a análise dessas alterações (mutação pontual) para até 6 familiares consanguíneos, sem ônus e sem taxa de envio de coleta.
