Oftalmo-NGS

Doenças oftalmológicas - sequenciamento - 450 genes

Painel completo - Sequenciamento de genes previamente associados a catarata, anormalias da córnea, glaucoma, anoftalmia, microftalmia, coloboma ocular, nistagmo infantil, neuropatias ópticas hereditárias, distrofia macular hereditária, amaurose congênita de Leber, distrofia de retina, distrofia de cones e bastonetes, doença de Stargardt , entre outras.

ABCA4, ABCB6, ABHD12, ACO2, ACTB, ACTG1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADGRV1, AGBL5, AGK, AGPS, AHI1, AHR, AIPL1, AIRE, ALDH18A1, ALDH1A3, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ATF6, ATOH7, B3GALNT2, B3GALT1, B3GLCT, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BMP4, C12orf57, C12orf65, C19orf12, C1QTNF5, CA4, CABP4, CACNA1A, CACNA1F, CACNA2D4, CAPN5, CBS, CC2D2A, CDH23, CDH3, CDHR1, CENPF, CEP104, CEP164, CEP290, CEP41, CEP78, CERKL, CFAP410, CFAP418, CFH, CHD7, CHM, CHMP4B, CHRDL1, CHST6, CIB2, CISD2, CLCC1, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL2A1, COL4A1, COL8A2, CPAMD8, CPLANE1, CRB1, CREBBP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CSPP1, CTNNB1, CTSD, CWC27, CYP1B1, CYP27A1, CYP4V2, CYP51A1, DCN, DDX58, DDX59, DHCR7, DHDDS, DHX38, DNM1L, DNMBP, DOCK6, EED, EFEMP1, EIF2B2, ELOVL4, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, ESCO2, EYS, FAM126A, FAM161A, FAT1, FBN1, FKTN, FLVCR1, FOXC1, FOXD3, FOXE3, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, FZD5, GALK1, GALT, GCNT2, GDF6, GEMIN4, GJA1, GJA3, GJA8, GLI3, GNAT1, GNAT2, GNPAT, GNPTG, GPR143, GPR179, GRIP1, GRK1, GRM6, GSN, GTF2H5, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HGSNAT, HK1, HMX1, HSF4, HTRA2, HYLS1, IDH3A, IDH3B, IFIH1, IFT140, IFT172, IFT43, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, IQCB1, ISPD, JAM3, KCNJ13, KCNV2, KERA, KIAA0586, KIAA1109, KIAA1549, KIF11, KIF3B, KIF7, KIZ, KLHL7, KMT2D, KRT12, KRT3, LAMB2, LCA5, LCAT, LIM2, LMX1B, LONP1, LRAT, LRIT3, LRMDA, LRP2, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MAN2B1, MAPRE2, MERTK, MFF, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MSMO1, MYH9, MYO7A, MYOC, MYRF, NAA10, NDP, NEK2, NF2, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OTX2, OVOL2, P3H2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PIGL, PIK3R1, PIKFYVE, PITX2, PITX3, PLA2G5, PMM2, POC1B, POMGNT1, POMT1, POMT2, PORCN, PPT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRR12, PRSS56, PTCH1, PUF60, PXDN, RAB18, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RERE, RGR, RGS9, RHO, RIPK4, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SALL1, SALL4, SBF2, SC5D, SCAPER, SCLT1, SDCCAG8, SEMA4A, SH3PXD2B, SHH, SIL1, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC45A2, SLC4A11, SLC4A4, SLC52A2, SLC7A14, SMCHD1, SMO, SMOC1, SNRNP200, SOX2, SPATA7, SPG7, SRD5A3, SSBP1, STRA6, TACSTD2, TBC1D20, TCTN1, TCTN2, TCTN3, TDRD7, TEK, TENM3, TFAP2A, TGFBI, TIMM8A, TIMP3, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM98, TOPORS, TPP1, TRAF3IP1, TRIM32, TRPM1, TSPAN12, TTC8, TTLL5, TUB, TUBB4B, TUBGCP4, TULP1, TYR, TYRP1, UBIAD1, USH1C, USH1G, USH2A, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WFS1, WHRN, WRN, XYLT2, YAP1, ZEB1, ZEB2, ZNF408, ZNF423, ZNF469, ZNF513

40503801

40 a 60 dias úteis

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