Oftalmologia
O teste genético é muito importante para determinar a causa das doenças oftalmológicas hereditárias. Atualmente, conhecemos uma gama de genes associados a tais doenças, incluindo catarata, retinopatias, glaucoma, retinite pigmentosa, distrofia macular, doença de Stargardt, entre outras.
CentoVision
O CentoVision foi projetado para encontrar a base genética das doenças oculares. Ele inclui as doenças oftalmológicas
mais comuns, como glaucoma congênito, retinite pigmentosa, doença de Stargardt, síndrome de Stickler, acromatopsia e síndrome de Usher e rastreia diferentes tipos de albinismo (oculocutâneo e ocular), bem como a síndrome de Hermasky-Pudlak.
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes : 378
Cobertura: ≥ 99,5% ≥20x
ABCA4, ABCB6, ABHD12, ACO2, ACVR1, ADAM9, ADGRV1, AFG3L2, AGK, AHI1, AIPL1, ALDH18A1, ALDH1A3, AP3B1, APTX, ARL13B, ARL6, ASB10, ATF6, AUH, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C12orf65, C1QTNF5, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP41, CERKL, CHD7, CHM, CHMP4B, CIB2, CISD2, CLCN7, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COX7B, CPLANE1, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNB1, CTSD, CYP1B1, CYP27A1, DGUOK, DHDDS, DKC1, DNA2, DNAJC19, DNM1L, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, ENPP1, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, EYS, FAM126A, FAM161A, FLVCR1, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GBA, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GNAT2, GNPTG, GPR143, GRIP1, GRN, GUCA1A, GUCA1B, GUCY2D, HCCS, HESX1, HEXA, HGSNAT, HK1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA2, IDH3B, IFT140, IFT172, IFT27, IMPDH1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIF11, KIF7, KIT, KLHL7, LCA5, LEMD2, LEP, LEPR, LIM2, LMX1B, LOXL1, LRAT, LRMDA, LRP2, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MC1R, MERTK, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MLPH, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NF2, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR0B2, NR2F1, NRL, NTF4, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPTN, OSTM1, OTX2, P3H2, PAX2, PAX3, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7, PHF6, PHYH, PIK3R5, PITPNM3, PITX2, PITX3, PLA2G5, PNKP, PNPLA6, POLG, POLG2, POMC, POMGNT1, PPARG, PPT1, PQBP1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, RAB18, RAB27A, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SBF2, SDCCAG8, SEMA4A, SERAC1, SETX, SHH, SIL1, SIX3, SIX6, SLC16A12, SLC24A5, SLC25A4, SLC25A46, SLC33A1, SLC45A2, SLC9A6, SMCHD1, SMOC1, SNAI2, SNRNP200, SNX10, SOX10, SOX2, SPATA7, SPG7, STRA6, TBC1D20, TBK1, TCIRG1, TCTN1, TCTN2, TCTN3, TDRD7, TENM3, TFAP2A, TIMM8A, TIMP3, TK2, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TNFRSF11A, TNFSF11, TOPORS, TPP1, TRIM32, TRNT1, TSPAN12, TTC21B, TTC8, TTPA, TULP1, TWNK, TYMP, TYR, TYRP1, UNC45B, USH1C, USH1G, USH2A, VCAN, VIM, VPS13B, VSX2, WDPCP, WDR19, WDR36, WFS1, WHRN, ZIC2, ZNF423, ZNF513