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Ophthalmologic diseases

ACHROMATOPSIA: 13 genes – Delivery time: 3-4 weeks

ATF6, CNGA3, CNGB3, CNNM4, GNAT2, OPN1LW, OPN1MW, OPN1SW, PDE6C, PDE6H, RGS9, RGS9BP, RPGR

ANOPHTHALMIA/ MICROPHTHALMIA/ COLOBOMA: 126 genes – Delivery time: 3-4 weeks

ABCB6, ACTB, ADAM9, ADAMTS18, ALDH1A3, ALX1, ASPH, ATOH7, BCOR, BEST1, BMP4, BMP7, C12orf57, CC2D2A, CDON, CEP290, CFH, CHD7, CLDN19, COL4A1, COX7B, CRYAA, CRYBA4, CSPP1, CTNNA1, CYP1B1, DHX38, ELP4, ERCC1, ERCC2, ERCC5, ERCC6, FAT1, FNBP4, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GLI2, GRIP1, HCCS, HESX1, HMGB3, HMX1, IGBP1, IKBKG, INPP5E, ITPR1, KERA, KIF11, KIF7, KMT2D, LRP2, LRP5, MAB21L2, MAF, MFRP, MITF, MKS1, NAA10, NDP, NDUFB11, NHS, NMNAT1, OCRL, OTX2, PAX2, PAX6, PDE6D, PIGL, PITX2, PITX3, PLK4, POMGNT1, PORCN, PQBP1, PRDM5, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RECQL4, RERE, RPGRIP1L, SALL1, SALL2, SALL4, SEMA3E, SHH, SIX3, SIX6, SLC16A12, SLC38A8, SMCHD1, SMO, SMOC1, SOX2, SRD5A3, STRA6, TBC1D20, TENM3, TFAP2A, TGIF1, TMEM138, TMEM216, TMEM237, TMEM67, TMEM98, TUBGCP4, TUBGCP6, UBE3B, VAX1, VPS13B, VSX1, VSX2, YAP1, ZIC2

CONGENITAL CATARACTS: 175 genes – Delivery time: 3-4 weeks

ABCA3, ABCB6, ABHD12, ABHD5, ADAMTS10, ADAMTS18, ADAMTSL4, AGK, AGPS, ALDH18A1, ALPL, B3GLCT, BCOR, BEST1, BFSP1, BFSP2, BMP4, BMP7, CAV1, CHMP4B, CLN3, CLPB, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, DHCR7, DYRK1A, EBP, EIF2B2, ELP4, EOGT, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, ESCO2, EYA1, FAM126A, FBN1, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GCNT2, GEMIN4, GFER, GJA1, GJA3, GJA8, GJC3, GLA, GLS, GNPAT, GTF2H5, HCCS, HMX1, HSF4, HTRA2, INPP5B, INPP5K, JAM3, LAMB1, LARGE1, LCAT, LCT, LIM2, LMX1B, LONP1, LRP5, LTBP2, LTBP3, MAF, MAN2B1, MEIS1, MIP, MMP1, MSMO1, MSRA, MTTP, MYH9, NDP, NDUFA1, NECTIN3, NF2, NHS, NRCAM, OCRL, OPA3, OTX2, P3H2, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PITX2, PITX3, PLD3, POMT1, POMT2, PON2, PROX1, PRX, PTCH1, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RDH11, RECQL4, RGS6, RNLS, SC5D, SEC23A, SEMA3A, SIL1, SIX3, SIX5, SIX6, SLC16A12, SLC1A5, SLC25A13, SLC2A1, SLC33A1, SOX2, SPINT2, SRD5A3, SREBF2, TACR1, TBC1D20, TDRD7, TFAP2A, TMEM114, TMEM70, UNC45B, UPF3B, VIM, VSX2, WFS1, WRN, XYLT2

CORNEAL DYSTROPHY AND CORNEAL ALTERATIONS: 75 genes – Delivery time: 3-4 weeks

ADAMTS18, AGBL1, ALDH18A1, APOA1, ATOH7, B3GLCT, BCOR, CHRDL1, CHST6, COL17A1, COL4A1, COL5A1, COL8A2, CRYBB1, CRYGC, CTDP1, CYP1B1, CYP4V2, DCN, ERCC8, FOXC2, FOXE3, FOXL2, GJA1, GJA8, GNPTG, GRHL2, GSN, HCCS, HMX1, JAG1, KERA, KIF11, KRT12, KRT3, LCAT, LMX1B, LOXHD1, LTBP2, MAB21L2, MAF, NAA10, NHS, NLRP1, NLRP3, OTX2, PAX6, PEX5, PIK3R1, PIKFYVE, PITX2, PITX3, POMGNT1, PRDM5, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RAX, RBP4, RECQL4, SLC16A12, SLC4A11, SMCHD1, SOD1, TACSTD2, TBC1D20, TCF4, TENM3, TGFBI, UBIAD1, VSX1, ZEB1, ZNF469

EARLY ONSET HIGH MYOPIA: 124 genes – Delivery time: 3-4 weeks

ABCC6, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL4, AGK, ALDH18A1, ARHGAP31, ASXL1, ATOH7, B3GALT6, BEST1, BSG, CACNA1F, CAPN5, CBS, CFAP410, CHST14, CNGA3, CNGB3, COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL5A1, COL9A1, COL9A2, COL9A3, CRB1, CTNNB1, CTNND2, CYP4V2, DOCK6, ELOVL4, EPHA2, EPHB2, ERBB3, FAM161A, FBN1, FBN2, FGFR3, FKBP14, FZD4, GJA1, GJA8, GNAT1, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCY2D, HGF, IFIH1, IRX5, JAG1, KCNJ13, KCNV2, KIF11, LAMA1, LRIT3, LRP2, LRP5, LRPAP1, LTBP2, MMADHC, MYCBP2, MYOC, NDP, NDUFAF7, NIPBL, NYX, OAT, OPA1, P3H2, PACS1, PAX2, PAX6, PDE6B, PIK3R1, PITX3, PLOD1, PLOD3, POLR3B, POMGNT1, POMT1, PRDM5, PRIMPOL, PROM1, PRPF6, PRPH2, RAB28, RBP3, RCBTB1, RDH5, RHO, RP1, RPE65, RPGR, SAG, SCO2, SLC24A1, SLC38A8, SLC39A5, SLITRK6, SMS, TBC1D24, TFAP2A, TGFBR1, TGFBR2, TRPM1, TSPAN12, TTC8, TULP1, VCAN, VPS13B, VSX1, XYLT1, ZNF408, ZNF469, ZNF644

ECTOPIA LENTIS: 19 genes – Delivery time: 3-4 weeks

AASS, ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, BCOR, CBS, COL18A1, COL5A1, COL8A2, CYP1B1, FBN1, FOXC1, LTBP2, P3H2, PAX6, PORCN, SUOX, VSX2

GLAUCOMA: 50 genes – Delivery time: 3-4 weeks

ACVR1, ADAMTS10, ADAMTS17, ASB10, ATOH7, BEST1, BMP4, CA4, CANT1, CNTNAP2, COL18A1, COL4A1, COL8A2, CREBBP, CYP1B1, FBN1, FOXC1, FOXD3, FOXE3, ISPD, LMX1B, LOXL1, LTBP2, MAF, MFRP, MYOC, NTF4, OPA1, OPA3, OPTC, OPTN, PAX6, PIK3R1, PITX2, PITX3, POMT1, PRSS56, PXDN, RPGRIP1, RPS19, RRM2B, SBF2, SH3PXD2B, SIX6, SLC4A4, TBK1, TEK, TMEM126A, TTR, WDR36

GLOBAL OPHTHALMOLOGICAL DISEASES: 795 genes – Delivery time: 3-4 weeks

AASS, ABCA3, ABCA4, ABCB6, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ACTB, ACVR1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL4, ADGRA3, ADGRV1, ADIPOR1, AFG3L2, AGBL1, AGK, AGPS, AHI1, AHR, AIPL1, AIRE, ALDH18A1, ALDH1A3, ALDH3A2, ALG3, ALMS1, ALPL, ALX1, AMACR, ANKS6, ANTXR1, AP3B1, AP3D1, APOA1, APOE, APTX, ARHGAP31, ARL13B, ARL2BP, ARL3, ARL6, ARMS2, ARNT2, ASB10, ASPH, ASXL1, ATAD3A, ATF6, ATOH7, ATP13A2, ATP6V0A2, AUH, B3GALNT2, B3GALT6, B3GLCT, B4GAT1, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCL6, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S5, BLOC1S6, BMP4, BMP7, BSG, BUB1B, C12orf57, C12orf65, C19orf12, C1QTNF5, C2, C2CD3, C3, C8orf37, C9, CA4, CABP4, CACNA1A, CACNA1F, CACNA2D4, CANT1, CAPN5, CASK, CAV1, CBS, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CDH23, CDH3, CDHR1, CDKN2A, CDON, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP83, CERKL, CFAP410, CFB, CFH, CFHR1, CFHR3, CFI, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST14, CHST6, CIB2, CISD2, CLCN7, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CNTNAP2, COG4, COL11A1, COL11A2, COL17A1, COL18A1, COL25A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL8A2, COL9A1, COL9A2, COL9A3, COQ2, COX7B, CPLANE1, CRB1, CREBBP, CRELD1, CRIM1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CST3, CTC1, CTDP1, CTNNA1, CTNNB1, CTNND2, CTSD, CTSF, CX3CR1, CYP1B1, CYP27A1, CYP2R1, CYP4V2, DCN, DGUOK, DHCR7, DHDDS, DHX38, DISP1, DKC1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNAJC5, DNAL1, DNM1L, DOCK6, DTHD1, DTNBP1, DYNC2H1, DYRK1A, EDN3, EDNRB, EFEMP1, EIF2B2, ELMOD2, ELOVL4, ELP4, EMC1, ENPP1, EPG5, EPHA2, EPHB2, ERBB3, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, ESCO2, ESPN, EVC, EVC2, EXOC8, EYA1, EYS, FAH, FAM126A, FAM161A, FAT1, FBLN5, FBN1, FBN2, FGF8, FGFR1, FGFR3, FKBP14, FKRP, FKTN, FLNB, FLVCR1, FNBP4, FOXC1, FOXC2, FOXD3, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GAS1, GBA, GCNT2, GDF1, GDF3, GDF6, GEMIN4, GIPC3, GJA1, GJA3, GJA8, GJB2, GJB6, GJC3, GLA, GLI2, GLIS2, GLS, GMPPB, GNAT1, GNAT2, GNB3, GNPAT, GNPTG, GNS, GP1BA, GPR143, GPR179, GRHL2, GRIP1, GRK1, GRM6, GRN, GSN, GTF2H5, GUCA1A, GUCA1B, GUCY2D, HADHA, HADHB, HARS, HCCS, HCN1, HESX1, HEXA, HGF, HGSNAT, HK1, HMCN1, HMGB3, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA1, HTRA2, HYLS1, IDH3B, IDS, IDUA, IFIH1, IFT140, IFT172, IFT27, IFT43, IFT80, IFT88, IGBP1, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5B, INPP5E, INPP5K, INVS, IQCB1, IRX5, ISCA2, ISPD, ITM2B, ITPR1, JAG1, JAM3, KARS, KCNJ13, KCNV2, KCTD7, KERA, KIAA1549, KIF11, KIF21A, KIF7, KIT, KIZ, KLHL7, KMT2D, KRT12, KRT3, LAMA1, LAMB1, LAMB2, LARGE1, LARGE2, LCA5, LCAT, LCT, LEFTY2, LEP, LEPR, LHFPL5, LHX3, LHX4, LIM2, LMX1B, LONP1, LOXHD1, LOXL1, LRAT, LRIT3, LRMDA, LRP2, LRP5, LRPAP1, LTBP2, LTBP3, LYST, LZTFL1, MAB21L2, MAF, MAK, MAN2B1, MC1R, MEIS1, MERTK, MFF, MFN2, MFRP, MFSD8, MGME1, MIP, MITF, MKKS, MKS1, MLPH, MMACHC, MMADHC, MMP1, MPDZ, MSMO1, MTPAP, MTTP, MVK, MYCBP2, MYH9, MYO5A, MYO6, MYO7A, MYOC, NAA10, NAGLU, NARS2, NBAS, NDP, NDUFA1, NDUFAF3, NDUFAF7, NDUFB11, NDUFS1, NDUFS2, NDUFS3, NEFH, NEK1, NEK2, NEK8, NEUROD1, NF2, NHS, NIPBL, NKX2-1, NKX2-5, NLRP1, NLRP3, NME8, NMNAT1, NODAL, NOTCH2, NPHP1, NPHP3, NPHP4, NR0B2, NR2E3, NR2F1, NRL, NTF4, NXNL1, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTC, OPTN, OSTM1, OTX2, P3H2, PACS1, PANK2, PAX2, PAX3, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDSS1, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHF6, PHOX2A, PHYH, PIBF1, PIGL, PIK3R1, PIK3R5, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLD3, PLK4, PLOD1, PLOD3, PNKP, PNPLA6, POC1B, POLG, POLG2, POLR3B, POMC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON2, PORCN, PPARG, PPT1, PQBP1, PRCD, PRDM5, PRIMPOL, PRKCG, PROKR2, PROM1, PROP1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PRX, PTCH1, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RECQL4, REEP1, RERE, RGR, RGS9, RGS9BP, RHBDD2, RHO, RIMS1, RLBP1, ROBO3, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS19, RRM2B, RS1, RSPH4A, RSPH9, SAG, SALL1, SALL2, SALL4, SBF2, SC5D, SCAPER, SCARF2, SCLT1, SCO2, SDCCAG8, SDHA, SEC23A, SEMA3A, SEMA3E, SEMA4A, SERAC1, SETX, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SGSH, SH3PXD2B, SHH, SIL1, SIX3, SIX5, SIX6, SLC16A12, SLC19A2, SLC19A3, SLC24A1, SLC24A5, SLC25A1, SLC25A13, SLC25A4, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC4A4, SLC52A2, SLC7A14, SLC9A6, SLITRK6, SMCHD1, SMO, SMOC1, SMS, SNAI2, SNRNP200, SNX10, SOD1, SOX10, SOX2, SOX3, SPATA7, SPG7, SPINT2, SPP2, SRD5A3, SREBF2, SSBP1, STRA6, SUCLA2, SUFU, SUOX, TACR1, TACSTD2, TBC1D20, TBC1D24, TBK1, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM1, TENM3, TERT, TFAP2A, TGFBI, TGFBR1, TGFBR2, TGIF1, TIMM8A, TIMP1, TIMP3, TK2, TLR3, TLR4, TMEM114, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TMEM98, TNC, TNFRSF11A, TNFSF11, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSFM, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUB, TUBB2B, TUBB3, TUBGCP4, TUBGCP6, TULP1, TWNK, TYMP, TYR, TYRP1, UBE3B, UBIAD1, UCHL1, UNC119, UNC45B, UPF3B, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WDR34, WDR35, WDR36, WFS1, WHRN, WRN, XPNPEP3, XYLT1, XYLT2, YAP1, ZEB1, ZEB2, ZIC2, ZIC3, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644

GLOBAL RETINAL DYSTROPHIES: 483 genes – Delivery time: 3-4 weeks

ABCA3, ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ACVR1, ADAM9, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1, ADIPOR1, AGK, AHI1, AHR, AIPL1, AIRE, ALDH18A1, ALDH1A3, ALDH3A2, ALMS1, AMACR, AP3B1, APOE, ARL13B, ARL2BP, ARL3, ARL6, ARMS2, ARNT2, ASB10, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCL6, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C12orf65, C1QTNF5, C2, C2CD3, C3, C8orf37, C9, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CDON, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP83, CERKL, CFAP410, CFB, CFH, CFHR1, CFHR3, CFI, CHM, CHMP4B, CHRDL1, CHST6, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COG4, COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL4A6, COL8A2, COL9A1, COL9A2, COL9A3, COQ2, CPLANE1, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CST3, CTC1, CTDP1, CTNNA1, CTNNB1, CTSD, CX3CR1, CYP1B1, CYP4V2, DCN, DHCR7, DHDDS, DHX38, DISP1, DTHD1, DTNBP1, DYNC2H1, EFEMP1, ELMOD2, ELOVL4, EMC1, EPHA2, ERCC6, ERCC8, ESPN, EXOC8, EYA1, EYS, FAM161A, FBLN5, FBN2, FGF8, FGFR1, FLVCR1, FOXC1, FOXE3, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, GALK1, GALT, GAS1, GCNT2, GDF6, GIPC3, GJA3, GJA8, GLI2, GNAT1, GNAT2, GNB3, GNPTG, GNS, GPR143, GPR179, GRIP1, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HESX1, HGSNAT, HK1, HMCN1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA1, IDH3B, IDS, IFT140, IFT172, IFT27, IFT43, IFT80, IFT88, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ISPD, ITM2B, JAG1, KARS, KCNJ13, KCNV2, KIAA1549, KIF11, KIF7, KIZ, KLHL7, KRT12, KRT3, LAMA1, LARGE2, LCA5, LHFPL5, LHX3, LHX4, LIM2, LMX1B, LOXHD1, LOXL1, LRAT, LRIT3, LRP2, LRP5, LTBP2, LYST, LZTFL1, MAF, MAK, MC1R, MERTK, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MMACHC, MPDZ, MTPAP, MTTP, MVK, MYO6, MYO7A, MYOC, NAGLU, NBAS, NDP, NEK2, NEUROD1, NHS, NKX2-1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OPTN, OTX2, P3H2, PANK2, PAX2, 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, PHYH, PIBF1, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PNPLA6, POC1B, POMGNT1, POMT1, PPT1, PRCD, PROKR2, PROM1, PROP1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PTCH1, PXDN, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RGS9BP, RHBDD2, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS19, RRM2B, RS1, SAG, SBF2, SCAPER, SCLT1, SDCCAG8, SEMA4A, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SGSH, SH3PXD2B, SHH, SIL1, SIX3, SIX6, SLC16A12, SLC19A2, SLC24A1, SLC24A5, SLC25A46, SLC33A1, SLC45A2, SLC4A11, SLC4A4, SLC7A14, SMOC1, SNRNP200, SOX2, SOX3, SPATA7, SPP2, SSBP1, STRA6, SUFU, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TENM3, TERT, TGFBI, TGIF1, TIMM8A, TIMP1, TIMP3, TLR3, TLR4, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNC, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUB, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBIAD1, UNC119, UNC45B, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WDR34, WDR36, WFS1, WHRN, WRN, XYLT2, ZEB1, ZIC2, ZNF408, ZNF423, ZNF513

LEBER CONGENITAL AMAUROSIS: 35 genes – Delivery time: 3-4 weeks

AIPL1, ALMS1, BBS4, CABP4, CEP290, CNGA3, CNGB3, CRB1, CRX, DTHD1, GDF6, GNAT2, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PDE6H, PRPH2, RD3, RDH12, RDH5, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1

MACULAR DYSTROPHY: 35 genes – Delivery time: 3-4 weeks

ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CFI, CHST6, CNGB3, CRB1, CRX, CTNNA1, EFEMP1, ELOVL4, FSCN2, GUCA1B, HMCN1, IMPG1, IMPG2, KCNV2, MFSD8, NMNAT1, PROM1, PRPH2, RAX2, RBP3, RBP4, RDH12, RDH5, RLBP1, RP1L1, RPGR, RPGRIP1, RS1, SIX6, TIMP3

NEURO-OPHTHALMOLOGICAL DISEASES: 56 genes – Delivery time: 3-4 weeks

ACO2, AFG3L2, ANTXR1, APTX, ATAD3A, AUH, C12orf65, C19orf12, CHN1, CISD2, DNAJC19, DNM1L, FRMD7, GPR143, HESX1, ISCA2, KIF21A, MFN2, MGME1, MTPAP, NARS2, NBAS, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, OTX2, PAX6, PDSS1, PHOX2A, POLG, PRPS1, ROBO3, RRM2B, SALL4, SETX, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SLC38A8, SLC52A2, SNX10, SOX2, SPG7, SUCLA2, TIMM8A, TK2, TMEM126A, TSFM, TUBB3, TWNK, TYMP, UCHL1, WFS1

OCULOCUTANEOUS ALBINISM (OCA): 26 genes – Delivery time: 3-4 weeks

AAP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, EDN3, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1

OPTICAL ATROPHY: 57 genes – Delivery time: 3-4 weeks

ACO2, AFG3L2, ALG3, ATAD3A, AUH, C12orf65, C19orf12, CISD2, DNA2, DNAJC19, DNM1L, GP1BA, ISCA2, KIF7, LYST, MFF, MFN2, MGME1, MTPAP, NARS2, NBAS, NDUFAF3, NDUFS1, NDUFS2, NDUFS3, NEFH, NR2F1, OPA1, OPA3, PAX6, PDSS1, POLG, POLG2, PRPS1, RAB3GAP1, REEP1, RRM2B, SDHA, SLC19A2, SLC19A3, SLC24A1, SLC25A4, SLC25A46, SLC52A2, SNX10, SOX2, SPG7, SUCLA2, TBC1D20, TIMM8A, TK2, TMEM126A, TSFM, TWNK, TYMP, UCHL1, WFS1

PROGRESSIVE EXTERNAL OPHTHALMOPLEXY: 12 genes – Delivery time: 3-4 weeks

DGUOK, DNA2, MGME1, OPA1, POLG, POLG2, RRM2B, SLC25A4, SPG7, TK2, TWNK, TYMP

RETINOSIS PIGMENTARIUS: 226 genes – Delivery time: 3-4 weeks

ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRA3, ADGRV1, ADIPOR1, AHI1, AHR, AIPL1, ALMS1, ARL13B, ARL2BP, ARL3, ARL6, ATF6, ATOH7, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP164, CEP19, CEP290, CERKL, CFAP410, CHM, CHST6, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL4A1, COQ2, CRB1, CRX, CSPP1, CTNNA1, CTNNB1, CTSD, CYP2R1, CYP4V2, DHDDS, DHX38, DYNC2H1, EFEMP1, ELOVL4, EMC1, ERCC6, ERCC8, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMX1, IDH3B, IFT140, IFT172, IFT27, IFT43, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, KCNJ13, KCNV2, KIAA1549, KIF11, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAF, MAK, MERTK, MFRP, MKKS, MKS1, MVK, MYO6, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OTX2, PANK2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDZD7, PEX1, PEX2, PEX26, PEX6, PEX7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RHBDD2, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SCLT1, SDCCAG8, SEMA4A, SLC24A1, SLC38A8, SLC7A14, SNRNP200, SPATA7, SPP2, TEAD1, TIMP3, TMEM237, TMEM67, TOPORS, TRAF3IP1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC8, TTPA, TUB, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, ZNF408, ZNF423, ZNF513

ROD AND CONE DYSTROPHY: 53 genes – Delivery time: 3-4 weeks

ABCA4, ADAM9, ADAMTS18, AIPL1, ATF6, BEST1, C8orf37, CABP4, CACNA1F, CACNA2D4, CDH3, CDHR1, CEP250, CEP290, CERKL, CFAP410, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, ELOVL4, EYS, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, OPN1LW, OPN1MW, PAX6, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RLBP1, RPGR, RPGRIP1, SEMA4A, TTLL5, TULP1, UNC119

STARGARDT DISEASE: 49 genes – Delivery time: 3-4 weeks

ABCA4, AHR, APOE, ARMS2, BEST1, C1QTNF5, C3, C9, CDH3, CERKL, CFH, CFHR1, CFI, CHM, CHST6, CNGB3, CRB1, CST3, CX3CR1, CYP4V2, EFEMP1, ELOVL4, ERCC6, FBLN5, FSCN2, GUCA1B, HMCN1, HTRA1, IMPG1, IMPG2, KCNJ13, MFSD8, PLA2G5, PROM1, PRPH2, RAX2, RBP3, RDH12, RDH5, RHO, RLBP1, RP1L1, RPGR, RPGRIP1, RS1, TIMP3, TLR3, TLR4, VPS13B

STATIONARY CONGENITAL NIGHT BLINDNESS: 25 genes – Delivery time: 3-4 weeks

CABP4, CACNA1F, CACNA2D4, CHM, CYP4V2, FRMD7, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, ITM2B, LRIT3, MYO6, NYX, PDE6B, RBP4, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1

STICKLER SYNDROME: 10 genes – Delivery time: 3-4 weeks

BMP4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LRP2, PLOD3, VCAN

VITRORETINOPATHY: 29 genes – Delivery time: 3-4 weeks

ATOH7, ATP6V0A2, BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, CTC1, CTNNB1, FZD4, ISPD, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2, RCBTB1, RS1, TSPAN12, VCAN, ZNF408

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