Retina-NGS

Doenças retinianas - sequenciamento - 217 genes

Painel ampliado contendo genes associados a retinose pigmentar e outras doenças da retina

ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, AGBL5, AHI1, AHR, AIPL1, AIRE, ALMS1, ARHGEF18, ARL2BP, ARL3, ARL6, ATF6, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP78, CERKL, CFAP410, CFAP418, CFH, CHM, CIB2, CLCC1, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL18A1, COL4A1, CRB1, CRX, CSPP1, CTNNB1, CTSD, CWC27, CYP4V2, DHDDS, DHX38, EFEMP1, ELOVL4, ERCC6, ERCC8, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HGSNAT, HK1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT43, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIAA1549, KIF11, KIF3B, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MERTK, MFRP, MFSD8, MKKS, MKS1, MYO7A, NDP, NEK2, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPN1LW, OPN1MW, OTX2, PANK2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PEX1, PEX2, PEX7, PHYH, PLA2G5, POC1B, POMGNT1, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SDCCAG8, SEMA4A, SLC24A1, SLC38A8, SLC7A14, SNRNP200, SPATA7, SRD5A3, TIMM8A, TIMP3, TMEM237, TOPORS, TPP1, TRIM32, TRPM1, TSPAN12, TTC8, TTLL5, TUB, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WHRN, ZNF408, ZNF423, ZNF513

40503801

40 a 60 dias úteis

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