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
Enfermedad hereditaria de la retina
Patología del nervio óptico
Alteraciones del globo ocular
Albinism
Documentation
Application form

DG Oftalmo 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.
Las enfermedades oftalmológicas cursan con problemas oculares y de la visión. Muchas de ellas tienen un origen genético y pueden estar presentes desde el nacimiento o desarrollarse a lo largo de la vida. El exoma dirigido DG Oftalmo incluye el análisis de más de 700 genes asociados a alteraciones de la retina, el vítreo y la córnea, así como a patologías del nervio óptico y alteraciones del globo ocular.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Enfermedad hereditaria de la retina I 12 estudios

Las enfermedades que afectan a la retina son un conjunto de enfermedades que alteran la anatomía y/o la función de la retina provocando una pérdida progresiva y severa de la visión. Son clínica y genéticamente muy heterogéneas, ya que una misma patología puede estar causada por variantes en varios genes y, a la inversa, un mismo gen puede estar relacionado con diferentes enfermedades. Además, hasta un 30% de los casos se asocian a formas sindrómicas como el síndrome de Usher o la enfermedad de Bardet-Biedl. Disponemos de un exoma dirigido general para enfermedades hereditarias de la retina, así como una amplia cartera de exomas dirigidos adaptados a distintos grupos subclínicos.
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.
Enfermedades que cursan con ceguera nocturna
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.
Distrofia de conos y bastones
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.
Distrofias maculares
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.
Distrofias vitrorretinianas
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

Alteraciones del segmento anterior I 3 estudios

El segmento anterior del ojo desempeña un papel esencial en la transparencia y el enfoque de la luz. Está constituido por la córnea, la cámara anterior, el iris, el cuerpo ciliar, la cámara posterior y el cristalino, estructuras que actúan de forma coordinada para permitir la correcta refracción y el mantenimiento de la presión intraocular. Las alteraciones genéticas que afectan a estas estructuras, especialmente a la córnea y al cristalino, pueden manifestarse desde el periodo neonatal hasta la edad adulta, con una gran heterogeneidad clínica y genética. Ofrecemos exomas dirigidos al estudio de las patologías de córnea y cristalino.
Córnea
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.
Cristalino
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

Patología del nervio óptico I 2 estudios

Las alteraciones neuroftalmológicas son aquellas enfermedades que afectan al nervio óptico y suelen manifestarse con pérdidas bruscas de la visión en uno o los dos ojos. Pueden afectar únicamente al sistema visual o ir acompañados de otras alteraciones neurológicas. Ofrecemos un estudio dirigido al análisis de genes asociados a la neuropatía óptica que incluye la neuropatía óptica de Leber, entre otros, y un exoma dirigido al estudio de 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

Alteraciones del globo ocular I 5 estudios

Las malformaciones oculares congénitas constituyen un amplio grupo de alteraciones de la organogénesis del ojo que pueden originarse por cambios genéticos durante el desarrollo embrionario. Las malformaciones oculares pueden ocurrir de manera aislada o como parte de un síndrome genético complejo. Mediante diferentes exomas dirigidos abordamos el estudio de las principales anomalías congénitas oculares como la microftalmia, la anoftalmia o el 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

Albinismo I 1 estudio

El término albinismo hace referencia a un grupo de trastornos hereditarios en los que hay poca o ninguna producción del pigmento melanina dando lugar a una ausencia de coloración de la piel, pelo y ojos. Ofrecemos un exoma dirigido para el estudio de los genes asociados al albinismo oculocutáneo y el síndrome de Hermansky-Pudlak.
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