Logo-Dreamgenics
Logo-Dreamgenics

Ophthalmology

Genetic studies are becoming increasingly important in determining the cause of inherited ophthalmologic diseases, as many of them have overlapping phenotypes.
Clinical areas
DG Ophthalmology
Hereditary retinal disease
Optic Nerve Disorders
Abnormalities of the eyeball
Albinism
Documentation
Application form

DG Ophthalmology I 731 genes

ABCA4, ABCB6, ABCC6, ABHD12, ACBD5, ACO2, ACOX1, ACTG1, ACVR1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1, ADIPOR1, AFG3L2, AGBL1, AGBL5, AGK, AGPS, AHI1, AHR, AIPL1, AIRE, ALDH18A1, ALDH1A3, ALDH1A3, ALDH3A2, ALMS1, ALPK1, AMACR, ANAPC1, AP3B1, AP3B2, AP3D1, AP5B1, AP5M1, AP5Z1, APOE, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARMS2, ARNT2, ARNT2, ARSG, ASB10, ASRGL1 , ATAD3A, ATAD3A, ATF6, ATG7, ATOH7, B3GLCT, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S1, BLOC1S3, BLOC1S5, BLOC1S6, BMP4, BORCS8, BTD, C19orf12, C19orf44, C1QTNF5, C2, C2CD3, C3, C9, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN15, CAPN5, CBS, CBY1, CC2D2A, CCDC28B, CCT2, CDH16, CDH23, CDH3, CDHR1, CDK9, CEP104, CEP120, CEP162, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CEP83, CERKL, CFAP20, CFAP410, CFAP418, CFB, CFH, CFHR1, CFHR3, CFI, CHD7, CHM, CHMP4B, CHST6, CIB2, CISD2, CLCC1, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CNTNAP2, COG4, COL11A1, COL11A2, COL17A1, COL18A1, COL2A1, COL4A1, COL5A1, COL8A2, COL9A1, COL9A2, COL9A3, COPB1, COQ2, COQ5, COQ8B, COX7B, CP, CPAMD8, CPLANE1, CRB1, CRB2, CREBBP, CRIM1, CRPPA, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CST3, CTC1, CTDP1, CTNNA1, CTNNB1, CTNND1, CTSD, CWC27, CX3CR1, CYP1B1, CYP27A1, CYP2R1, CYP2U1, CYP4V2, CYP51A1, DCN, DCT, DHCR7, DHDDS, DHX38, DNAJC17, DNAJC30, DNM1L, DNMBP, DOCK9, DRAM2, DTHD1, DTNBP1, DYNC2H1, DYRK1A, EDNRB, EFEMP1, EGFLAM, EIF2B2, ELOVL1, ELOVL4, ELP4, EMC1, EPHA2, EPRS1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, ESPN, EXOSC2, EYA1, EYS, FAM149B1, FAM161A, FAM50A, FAR1, FAT1, FBLN5, FBN1, FDX2, FDXR, FGFR1, FLRT1, FLVCR1, FNDC3B, FOSL2, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, FZD5, GABRB1, GALK1, GALM, GALT, GCNT2, GDF3, GDF6, GEMIN4, GFER, GGCX, GIPC3, GJA1, GJA3, GJA8, GLIS2, GLS, GNAT1, GNAT2, GNB3, GNPAT, GNPTG, GP1BA, GPATCH11, GPR143, GPR179, GRHL2, GRIP1, GRK1, GRM6, GRN, GSN, GTF2H5, GUCA1A, GUCA1B, GUCY2D, GZF1, HARS1, HCCS, HESX1, HGF, HGSNAT, HIKESHI, HK1, HKDC1, HMBS, HMCN1, HMGB3, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSF4, HTRA1, HTRA2, HYCC1, HYLS1, IBA57, IDH3A, IDH3B, IDH3G, IFIH1, IFT140, IFT172, IFT27, IFT43, IFT74, IFT81, IFT88, IGBP1, IKBKG, IL1RN, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, INTS1, INVS, IQCB1, ISCA2, ITPR1, JAG1, JAM3, KARS1, KATNIP, KCNJ13, KCNV2, KERA, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF3B, KIF7, KIZ, KLC2, KLC4, KLHL7, KMT2D, KRT12, KRT3, LAMA1, LAMP2, LCA5, LCAT, LEMD2, LETM1, LHFPL5, LHX2, LIG3, LIM2, LMX1B, LONP1, LOXHD1, LOXL1, LOXL3, LRAT, LRIT3, LRMDA, LRP2, LRP5, LRP6, LRRC32, LRRC8C, LSS, LTBP2, LYST, LZTFL1, MAB21L1, MAB21L2, MAF, MAG, MAK, MAN2B1, MAPKAPK3, MBTPS2, MC1R, MCAT, MCOLN1, MECR, MED12, MED27, MERTK, MFF, MFN2, MFRP, MFSD8, MIEF1, MIP, MITF, MKKS, MKS1, MLPH, MMACHC, MPDZ, MSMO1, MSTO1, MTPAP, MTRFR, MVK, MYH9, MYO5A, MYO7A, MYOC, MYRF, NAA10, NACC1, NBAS, NDP, NDUFA12, NDUFS2, NEK2, NEK8, NEUROD1, NF2, NHEJ1, NHS, NLRP1, NMNAT1, NOTCH2, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NTF4, NUP188, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPTN, OTX2, OVOL2, P3H2, PAK2, PANK2, PANK4, PAX2, PAX3, PAX6, PCARE, PCDH15, PCMTD1, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDSS1, PDXK, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGRMC1, PHYH, PIBF1, PIGL, PIK3C2A, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLCB3, PLEKHA7, PLK4, PLOD1, PLOD3, PNPLA6, POC1B, POC5, POLG, POMGNT1, POMGNT2, POMT1, PORCN, PPIB, PPT1, PQBP1, PRCD, PRDM13, PRDM5, PRICKLE3, PRIMPOL, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PSMC3, PXDN, PYGM, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RDH8, REEP6, RGR, RGS9, RGS9BP, RHO, RIC1, RIGI, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS19, RRM2B, RS1, RTN4IP1, SAG, SALL2, SAMD11, SAMD7, SBF2, SC5D, SCAPER, SCLT1, SDCCAG8, SDHA, SEMA4A, SGSH, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A46, SLC2A1, SLC2A10, SLC33A1, SLC37A3, SLC38A8, SLC44A1, SLC45A2, SLC4A11, SLC4A4, SLC52A2, SLC52A3, SLC66A1, SLC6A6, SLC7A14, SMAD4, SMCHD1, SMG8, SMO, SMOC1, SNF8, SNRNP200, SOX10, SOX2, SOX3, SPATA7, SPG7, SPP2, SPTLC1, SRD5A3, SREBF1, SSBP1, STN1, STRA6, STS, STX3, SUFU, SUMF1, SUOX, TACSTD2, TBC1D20, TBC1D32, TBCD, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TFG, TGFBI, THRB, TIMM8A, TIMP3, TINF2, TKFC, TLCD3B, TLR3, TLR4, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM45A, TMEM67, TMEM98, TNC, TOGARAM1, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRIM44, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUB, TUBA3D, TUBA8, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXNDC15, TYR, TYRP1, UBAP1L, UBIAD1, UCHL1, UNC119, UNC45B, USH1C, USH1G, USH2A, USP45, VAX1, VCAN, VIM, VPS13B, VPS35L, VPS4A, VSX1, VSX2, VWA8, WDPCP, WDR19, WDR36, WFS1, WHRN, WNT10A, WRN, WT1, XYLT2, YAP1, YME1L1, ZEB1, ZFYVE26, ZNF408, ZNF423, ZNF469, ZNF513, ZNF526.
Eye diseases are characterized by eye and vision problems. Many of them have a genetic origin and may be present from birth or develop over the course of a person’s life. The DG Oftalmo targeted exome test includes analysis of more than 700 genes associated with abnormalities of the retina, vitreous, and cornea, as well as optic nerve disorders and abnormalities of the eyeball.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hereditary retinal disease I: 12 studies

Retinal diseases are a group of conditions that alter the anatomy and/or function of the retina, leading to progressive and severe vision loss. They are clinically and genetically very heterogeneous, as a single condition can be caused by variants in multiple genes, and conversely, a single gene can be associated with different diseases. In addition, up to 30% of cases are associated with syndromic forms such as Usher syndrome or Bardet-Biedl disease. We offer a general targeted exome panel for hereditary retinal diseases, as well as a broad portfolio of targeted exome panels tailored to different subclinical groups.
ABCA4, ABCB6, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRA3, ADGRV1, ADIPOR1, AGBL5, AHI1, AHR, AIPL1, AIRE, ALDH3A2, ALMS1, ALPK1, AMACR, AP5B1, AP5M1, AP5Z1, APOE, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARMS2, ARR3, ARSG, ASRGL1, C19orf44, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, BMP4, C1QTNF5, C2, C2CD3, C3, C9, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CBY1, CC2D2A, CCDC28B, CCT2, CDH16, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP162, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP20, CFAP410, CFAP418, CFB, CFH, CFHR1, CFHR3, CFI, CHM, CHST6, CIB2, CLCC1, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, COQ2, COQ5, COQ8B, CPLANE1, CRB1, CRB2, CRX, CSPP1, CST3, CTC1, CTNNA1, CTNNB1, CTNND1, CTSD, CWC27, CWC27, CX3CR1, CYP2R1, CYP2U1, CYP4V2, DCT, DHDDS, DHX38, DNAJC17, DRAM2, DTHD1, DYNC2H1, DYRK1A, EFEMP1, EGFLAM, ELOVL1, ELOVL4, EMC1, ERCC6, ERCC8, ESPN, EXOSC2, EYS, FAM149B1, FAM161A, FBLN5, FLVCR1, FRMD7, FSCN2, FZD4, GABRB1, GDF6, GGCX, GIPC3, GLIS2, GNAT1, GNAT2, GNB3, GNPTG, GPATCH11, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, GZF1, HARS1, HCCS, HGSNAT, HK1, HKDC1, HMCN1, HMX1, HTRA1, HYLS1, IDH3A, IDH3B, IDH3G, IFT140, IFT172, IFT27, IFT43, IFT74, IFT81, IFT88, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KARS1, KATNIP, KCNJ13, KCNV2, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF3B, KIF3B, KIF7, KIZ, KLC4, KLHL7, LAMA1, LAMP2, LCA5, LHFPL5, LIG3, LOXHD1, LOXL3, LRAT, LRIT3, LRP2, LRP5, LRP6, LRRC32, LZTFL1, MAK, MAN2B1, MAPKAPK3, MCOLN1, MED12, MERTK, MFRP, MFSD8, MKKS, MKKS, MKS1, MKS1, MMACHC, MPDZ, MSTO1, MTRFR, MTTP, MVK, MYO7A, NBAS, NDP, NEK2, NEK8, NEUROD1, NMNAT1, NOTCH2, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OTX2, P3H2, PAK2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX6, PEX7, PGK1, PHYH, PIBF1, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POMGNT1, POMGNT2, POMT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PYGM, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RDH8, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SAMD11, SAMD7, SCAPER, SCLT1, SDCCAG8, SEMA4A, SGSH, SIX6, SLC24A1, SLC25A46, SLC37A3, SLC38A8, SLC66A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, SPP2, SPTLC1, SRD5A3, SSBP1, STN1, STX3, SUFU, SUMF1, TBC1D32, TCTN1, TCTN2, TCTN3, TEAD1, THRB, TIMM8A, TIMP3, TIMP3, TINF2, TLCD3B, TLR3, TLR4, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TNC, TOGARAM1, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXNDC15, UBAP1L, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VPS13B, VSX2, VWA8, WDPCP, WDR19, WHRN, XYLT2, ZFYVE26, ZNF408, ZNF423, ZNF513.
Conditions that cause night blindness
ABCA4, ABHD12, ADGRA3, ADGRV1, ADIPOR1, AGBL5, AHI1, AHR, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C2CD3, CA4, CACNA1F, CBY1, CC2D2A, CCDC28B, CDH16, CDH23, CDHR1, CEP104, CEP120, CEP162, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP20, CFAP418, CHM, CIB2, CLCC1, CLRN1, CNGA1, CNGB1, CPLANE1, CRB1, CRB2, CRX, CSPP1, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, EMC1, ESPN, EXOSC2, EYS, FAM149B1, FAM161A, FLVCR1, FSCN2, GABRB1, GGCX, GIPC3, GLIS2, GNPTG, GUCA1B, GUCY2D, HARS1, HGSNAT, HK1, HKDC1, HYLS1, IDH3A, IDH3B, IDH3G, IFT140, IFT172, IFT27, IFT43, IFT74, IFT88, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KARS1, KATNIP, KCNJ13, KIAA0586, KIAA0753, KIAA1549, KIF3B, KIF7, KIZ, KLC4, KLHL7, LCA5, LHFPL5, LOXHD1, LRAT, LZTFL1, MAK, MAPKAPK3, MERTK, MFRP, MKKS, MKS1, MVK, MYO7A, NEK2, NEK8, NEUROD1, NOTCH2, NPHP1, NPHP3, NPHP4, NR2E3, NRL, OFD1, PANK2, PCARE, PCDH15, PDE6A, PDE6B, PDE6D, PDE6G, PDZD7, PHYH, PIBF1, PLA2G5, POC1B, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RAX2, RBP3, RBP4, RCBTB1, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1L, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SLC24A1, SLC37A3, SLC66A1, SLC7A14, SNRNP200, SPATA7, SPP2, SUFU, TBC1D32, TCTN1, TCTN2, TCTN3, TEAD1, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TNC, TOGARAM1, TOPORS, TRAF3IP1, TRIM32, TRNT1, TTC21B, TTC8, TTPA, TULP1, TXNDC15, USH1C, USH1G, USH2A, VWA8, WDPCP, WDR19, WHRN, ZNF408, ZNF423, ZNF513.
AHI1, AIPL1, ALMS1, CABP4, CCT2, CEP290, CLUAP1, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, PCYT1A, PRPH2, RD3, RDH12, ROM1, RPE65, RPGRIP1, SPATA7, TUBB4B, TULP1, USP45.
CHM.
CABP4, CACNA1F, CACNA2D4, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1.
Rod-and-cone dystrophy
ABCA4, ACBD5, ADAM9, AIPL1, ALMS1, ATF6, C4A, C1QTNF5, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP250, CEP78, CERKL, CFAP410, CFAP418, CNGA3, CNGB3, CNNM4, COL18A1, CRX, DRAM2, GNAT2, GUCA1A, GUCY2D, HMX1, IFT81, KCNV2, NMNAT1, PCARE, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RIMS2, RLBP1, RPGR, RPGRIP1, RRM2B, SEMA4A, TLCD3B, TTLL5, UNC119.
ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RPGR.
Macular dystrophies
ABCA4, ALDH3A2, APOE, ARMS2, BEST1, C1QTNF5, C2, C3, C9, CDH3, CFB, CFH, CFHR1, CFHR3, CFI, CHST6, CNGB3, CST3, CTNNA1, CTNNB1, CTNND1, CX3CR1, DRAM2, EFEMP1, ELOVL4, ERCC6, FBLN5, FSCN2, GUCY2D, HMCN1, HTRA1, IMPG1, IMPG2, MAPKAPK3, MFSD8, OTX2, PRDM13, PROM1, PRPH2, RAX2, RDH8, RP1L1, RPGR, SAMD7, SIX6, TIMP3, TLR3, TLR4.
ABCA4, ELOVL4, PROM1, RDH8.
ABCA1, ABCA4, APOE, ARMS2, C2, C3, C9, CETP, CFB, CFH, CFHR1, CFHR3, CFI, COL10A1, COL8A1, CST3, CX3CR1, ERCC6, FBLN5, FBN2, HMCN1, HTRA1, LIPC, LPL, RAX2, TIMP3, TLR4.
Vitreoretinal dystrophies
ATOH7, BEST1, BMP4, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CTNNB1, FZD4, GZF1, KCNJ13, LOXL3, LRP2, LRP5, LRP6, NDP, NR2E3, PAK2, RS1, STN1, TSPAN12, VCAN, XYLT2, ZNF408.
BMP4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, GZF1, LOXL3, LRP2.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Abnormalities in the anterior segment: 3 studies

The anterior segment of the eye plays an essential role in light transmission and focusing. It consists of the cornea, the anterior chamber, the iris, the ciliary body, the posterior chamber, and the lens—structures that work together to ensure proper refraction and maintain intraocular pressure. Genetic alterations affecting these structures, particularly the cornea and the lens, can manifest from the neonatal period through adulthood, with significant clinical and genetic heterogeneity. We offer targeted exome sequencing for the study of corneal and lens disorders.
Cornea
AGBL1, AIPL1, CHST6, COL17A1, COL5A1, COL8A2, CRB1, CYP4V2, DCN, DOCK9, ERCC8, FAM50A, FNDC3B, FOXE3, GRHL2, GSN, HGF, IL1RN, KERA, KRT12, KRT3, LCAT, MAB21L1, MBTPS2, MCOLN1, NLRP1, OVOL2, PIKFYVE, PLCB3, PLOD1, PRDM5, RAB3GAP1, SLC2A10, SLC4A11, SMAD4, STS, TACSTD2, TGFBI, TMEM45A, TUBA3D, UBIAD1, VSX1, WNT10A, ZEB1, ZNF469.
Crystal-clear
ABHD12, ADAMTS10, ADAMTS17, AGK, AGPS, ALDH18A1, ANAPC1, ATAD3A, B3GLCT, BCOR, BFSP1, BFSP2, CDK9, CHMP4B, COG4, COL11A1, COL18A1, COL2A1, COL4A1, COPB1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, DHCR7, DNMBP, DYRK1A, EIF2B2, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, EYA1, FAR1, FOSL2, FOXE3, FTL, FYCO1, GALK1, GALM, GALT, GCNT2, GEMIN4, GFER, GJA3, GJA8, GLS, GNPAT, GTF2H5, HMBS, HMX1, HSF4, HTRA2, HYCC1, INPP5K, INTS1, JAM3, LCAT, LEMD2, LETM1, LIM2, LONP1, LSS, MAF, MAN2B1, MED27, MIP, MSMO1, MYH9, NACC1, NDP, NF2, NHS, NUP188, OCRL, OPA3, P3H2, PANK4, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGRMC1, PIK3C2A, PITX3, PLOD3, POLG, PSMC3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RIC1, SC5D, SIL1, SIPA1L3, SLC16A12, SLC2A1, SLC33A1, SMG8, SRD5A3, SREBF1, TDRD7, TFAP2A, TKFC, UNC45B, VIM, VPS4A, VSX2, WFS1, WRN, XYLT2, ZNF526.
ADAMTS10, ADAMTS17, ADAMTSL4, CBS, FBN1, LTBP2, SUOX.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Optic Nerve Pathology I: 2 Studies

Neuro-ophthalmological disorders are conditions that affect the optic nerve and typically present with sudden vision loss in one or both eyes. They may affect only the visual system or be accompanied by other neurological disorders. We offer a genetic analysis targeting genes associated with optic neuropathy, including Leber’s optic neuropathy, among others, and an exome analysis focused on glaucoma.
ACO2, AFG3L2, ALPK1, AP3B2, ARNT2, ATAD3A, ATG7, BLOC1S1, BORCS8, BTD, C19orf12, CISD2, DNAJC30, DNM1L, EPRS1, FDX2, FDXR, FGFR1, FLRT1, GP1BA, HESX1, HIKESHI, HK1, HSD17B10, IBA57, ISCA2, KLC2, LETM1, LHX2, LRRC8C, MAG, MCAT, MECR, MFF, MFN2, MIEF1, MTATP6, MTCO1, MTCO3, MTCYB, MTND1, MTND2, MTND3, MTND4, MTND4L, MTND5, MTND6, MTPAP, MTRFR, MTTK, MTTL1, MTTS2, NBAS, NDUFA12, NDUFS2, NR2F1, OPA1, OPA3, OTX2, PDSS1, PDXK, POLG, PPIB, PRICKLE3, PROKR2, PRPS1, RTN4IP1, SDHA, SLC25A46, SLC44A1, SLC52A2, SLC52A3, SNF8, SOX2, SOX3, SPG7, SSBP1, TBCD, TFG, TIMM8A, TMEM126A, UCHL1, WFS1, YME1L1.
ABCB6, ACTG1, ACVR1, ADAMTS10, ADAMTS17, ALDH1A3, ASB10, B3GLCT, BEST1, CANT1, CNTNAP2, COL11A1, COL18A1, COL8A2, CPAMD8, CRB1, CREBBP, CRPPA, CYP1B1, EFEMP1, FBN1, FOXC1, FOXE3, FZD5, GJA1, GRHL2, IFIH1, LMX1B, LOXL1, LTBP2, MAF, MFRP, MYOC, NDP, NTF4, OCRL, OPA1, OPTN, OTX2, OVOL2, PAX6, PCMTD1, PITX2, PITX3, PLEKHA7, POMT1, PRSS56, RAX, RIGI, RPS19, RRM2B, RS1, SALL2, SBF2, SH3PXD2B, SIX6, SLC4A4, SOX2, TEK, TMEM98, TRIM44, TTR, VSX1, WDR36, ZEB1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Eye Abnormalities I: 5 Studies

Congenital ocular malformations constitute a broad group of abnormalities in eye organogenesis that can result from genetic changes during embryonic development. Ocular malformations can occur in isolation or as part of a complex genetic syndrome. Using various targeted exome sequencing approaches, we investigate the major congenital ocular anomalies such as microphthalmia, anophthalmia, and coloboma.
ARNT2, FGFR1, HESX1, OTX2, PAX6, PROKR2, SOX2, SOX3, TUBA8.
ABCB6, ACTG1, ADAMTS18, ALDH1A3, B3GLCT, BCOR, BMP4, CAPN15, CHD7, COL4A1, COX7B, CRIM1, ERCC2, ERCC5, ERCC6, FAT1, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FZD5, GDF3, GDF6, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, IGBP1, KMT2D, MAB21L2, MFRP, MITF, MYRF, NAA10, NDP, NHEJ1, OCRL, OTX2, PAX2, PAX6, PIGL, PITX2, PITX3, PLK4, PORCN, PQBP1, PRSS56, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, SALL2, SHH, SIX3, SIX6, SLC38A8, SMCHD1, SMO, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, TMEM98, TUBGCP4, VAX1, VPS13B, VPS35L, VSX2, YAP1.
ELP4, FOXC1, ITPR1, PAX6, PITX2, TRIM44, WT1.
ABCB6, ACTG1, CRIM1, FZD5, GDF3, GDF6, IGBP1, NHEJ1, PAX6, PIGL, RBP4, SALL2, SHH, STRA6, TENM3, VSX2, YAP1.

CPAMD8, CYP1B1, FOXC1, FOXE3, PAX6, PITX2, PITX3, PXDN, VSX1.

Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Albinism I: 1 study

The term "albinism" refers to a group of hereditary disorders characterized by little or no production of the pigment melanin, resulting in a lack of pigmentation in the skin, hair, and eyes. We offer targeted exome sequencing to analyze genes associated with oculocutaneous albinism and Hermansky-Pudlak syndrome.
AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, CACNA1F, DCT, DTNBP1, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, PAX6, RAB27A, SLC24A5, SLC38A8, SLC45A2, SOX10, TYR, TYRP1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days