Oftalmogenética

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Realizamos el estudio de los siguientes genes reconocidos como involucrados en patologías oftalmológicas, mediante secuenciación NGS y análisis de CNVs.

Patologías diagnosticadas: 

Glaucoma, Amaurosis congénita de Leber, Neuropatía óptica de Leber, Acromatopsia, Distrofias Maculares, Retinosis Pigmentaria, Enfermedad de Stargardt, Vitreoretinopatía, Microoftalmia, Atrofia óptica, Distrofia corneal, Albinismo Ocular, Albinismo Oculocutáneo, Sindrome de Usher, Sindrome de Joubert,  Degeneración macular relacionada con la edad, entre otras.

Panel de genes analizados

  AARS2, AASS, ABAT, ABCA1, ABCA3, ABCA4, ABCB6, ABCB7, ABCC6, ABCD1, ABHD12,  ACACA, ACACB, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, ACBD5, ACO2, ADAM9,  ADAMTS10, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL4, ADGRA3, ADGRV1, ADIPOR1, AFAP1,  AFG3L2, AGBL5, AGK, AGPAT1, AGPS, AGRN, AHI1, AHR, AIFM1, AIPL1, AKAP14, AKR1C1, ALAS2,  ALDH18A1, ALDH1A3, ALDH3A2, ALG1, ALG14, ALG2, ALMS1, ALPK1, ALPL, AMACR, ANGPT1,  ANKS6, ANO10, ANTXR1, AP3B1, AP3D1, AP5Z1, APC, APOB, APTX, ARFGAP2, ARHGEF12, ARHGEF18,  ARID1A, ARL13B, ARL2, ARL2BP, ARL3, ARL6, ARMC9, ARMS2, ARSG, ASB10, ASIC5, ASPH, ASRGL1,  ATAD3A, ATF6, ATOH1, ATOH7, ATP13A2, ATP1A3, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MF, ATP5MG,  ATP5MGL, ATP5PB, ATP5PD, ATP7B, ATPAF1, ATPAF2, ATXN2, ATXN7, AUH, B3GALNT2, B3GALT6,  B3GLCT, B4GALT7, B4GAT1, B9D1, B9D2, BBIP1 (BBS18), BBS1, BBS10, BBS12, BBS2, BBS4, BBS5,  BBS7, BBS9, BCKDHA, BCKDHB, BCO1, BCO2, BCOR, BCS1L, BEST1, BFSP1, BFSP2, BLOC1S3,  BLOC1S5, BLOC1S6, BMP4, BMP7, BOLA3, BTD, BUB1B, C12ORF57, C12ORF65, C19ORF12, C1QBP,  C1QTNF5, C1R, C2, C2CD3, C3, C7orf26, C8A, C8B, C8ORF37, C9, CA4, CA5A, CABP4, CACNA1A,  CACNA1F, CACNA2D4, CANT1, CAPN15, CAPN5, CARS2, CASK, CAV1, CAV2, CBS, CC2D2A, CCDC103,  CCDC114, CCDC28B, CCDC39, CCDC40, CCER1, CCND1, CCNP, CCT2, CD36, CDH23, CDH3, CDHR1,  CDK5RAP2, CDKN2A, CDKN2B-AS1, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78,  CEP83, CERKL, CFAP410, CFB, CFH, CFHR1, CFHR2, CFHR3, CFI, CHAT, CHCHD10, CHD7, CHD8,  CHERP, CHKB, CHM, CHMP4B, CHN1, CHRNA1, CHRNB1, CHRND, CHRNE, CHST14, CHST6, CIB2,  CISD2, CLCC1, CLDN19, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLRN1, CLTA, CLUAP1,  CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CNTNAP2, COA3, COA4, COA5, COA6, COA7, COA8, COG4,  COG6, COL11A1, COL11A2, COL12A1, COL13A1, COL18A1, COL1A1, COL1A2, COL26A1, COL2A1,  COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL8A1, COL8A2, COL9A1,  COL9A2, COL9A3, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11,  COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX6A1, COX6A2, COX6B1,  COX6B2, COX7A1, COX7B, COX8A, CPAMD8, CPLANE1, CPT1A, CPT2, CRB1, CREBBP, CRELD1,  CRPPA, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA,  CRYGB, CRYGC, CRYGD, CRYGS, CSMD1, CSMD2, CSPP1, CST3, CTDP1, CTNNA1, CTNNB1, CTNND1,  CTSD, CTSF, CWC27, CX3CR1, CYC1, CYCS, CYP1B1, CYP27A1, CYP4V2, CYP51A1, DAG1, DARS2,  DBT, DCC, DCDC1, DCN, DCT, DDX58, DGUOK, DHCR7, DHDDS, DHX32, DHX38, DLAT, DLD, DMD,  DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC17, DNAJC19,  DNAJC30, DNAJC5, DNAL1, DNM1L, DNM2, DOCK6, DOK7, DPAGT1, DRAM2, DSCAML1, DSE, DTHD1,  DTNBP1, DYNC2H1, EARS2, ECHS1, EDN3, EDNRB, EFEMP1, ELAC2, ELOVL1, ELOVL4, ELP1, ELP4,  EMC1, ENSA, EPG5, EPHA2, ERAL1, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, ESCO2, ESPN, ETFA, ETFB,  ETFDH, ETHE1, EVA1A, EVC, EVC2, EXO5, EXOSC2, EYA1, EYS, FA2H, FAM131A, FAM161A, FARS2,  FASTKD2, FBLN5, FBN1, FBN2, FBP1, FBXL4, FCN1, FDFT1, FDX2, FDXR, FERMT1, FGF21, FH, FKBP14,  FKRP, FKTN, FLAD1, FLNB, FLVCR1, FOXC1, FOXC2, FOXE3, FOXH1, FOXRED1, FRAS1, FREM2,  FRMD7, FSCN2, FTL, FXN, FYCO1, FZD4, FZD5, G6PC, GAA, GALE, GALK1, GALM, GALT, GAMT, GAN,  GARS1, GAS7, GATB, GATC, GATM, GCDH, GCNT2, GDAP1, GDF1, GDF3, GDF6, GFER, GFM1, GFM2,  GFPT1, GJA1, GJA3, GJA8, GJB1, GJB2, GJB6, GJC3, GLA, GLIS2, GLRX5, GMDS, GMPPB, GNAT1,  GNAT2, GNB3, GNPAT, GNPTG, GNS, GPR143, GPR160, GPR179, GPR45, GRIP1, GRK1, GRM6, GRN,  GRWD1, GTPBP3, GUCA1A, GUCA1B, GUCA1C, GUCY2D, GYS2, GZF1, HADH, HADHA, HADHB,  HARS1, HARS2, HCCS, HCN1, HESX1, HGF, HGSNAT, HIBCH, HK1, HKDC1, HLCS, HMCN1, HMGB3,  HMGCL, HMGCS2, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSF4, HSPD1, HTRA1, HTRA2,  HYCC1, HYLS1, IARS1, IARS2, IBA57, IDH3A, IDH3B, IDUA, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52,  IFT54, IFT74, IFT80, IFT81, IFT88, IMPDH1, IMPG1, IMPG2, INPP5B, INPP5E, INTS1, INVS, IQCB1, ISCA1,  ISCA2, ISCU, ITM2B, JAG1, JAM3, KARS1, KCNJ13, KCNV2, KCTD7, KERA, KIAA0556, KIAA0586,  KIAA1549, KIF11, KIF1A, KIF24, KIF3B, KIF7, KIT, KIZ, KLC2, KLHL21, KLHL7, LAMA1, LAMA5,  LAMB1, LAMB2, LAMP2, LARGE1, LARS1, LARS2, LCA5, LCT, LDLR, LEFTY2, LEMD2, LENG8, LHX2,  LIAS, LIM2, LIPT1, LIPT2, LMX1B, LONP1, LOXL1, LOXL3, LRAT, LRIT3, LRMDA, LRP2, LRP4, LRP5,  LRPPRC, LRRC32, LRRC6, LSS, LTBP2, LTBP3, LYRM4, LYRM7, LYST, LZTFL1, MAB21L1, MAB21L2,  MACF1, MAF, MAK, MAN1C1, MAN2B1, MAP6D1, MAPKAPK3, MAPKBP1, MARS2, MASP1, MASP2,  MC1R, MCAT, MDH2, MECR, MEIS1, MERTK, MFF, MFN2, MFRP, MFSD8, MGME1, MICOS13, MICU1,  MIEF1, MIP, MIPEP, MIR184, MIR204, MITF, MKKS, MKS1, MLPH, MMACHC, MMP1, MMP9, MORC2,  MPC1, MPRIP, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23,  MRPS34, MRPS7, MRRF, MRS2, MSRA, MSTO1, MTFMT, MTMR7, MTO1, MTPAP, MTTP, MUSK, MVK,  MXRA8, MYH9, MYO5A, MYO7A, MYO9A, MYOC, NAA10, NADK2, NARS2, NAXE, NBAS, NDP, NDRG4,  NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8,  NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8,  NDUFB11, NDUFB3, NDUFB6, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5,  NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NECTIN2, NECTIN3, NEFH, NEK1, NEK2,  NEK8, NEUROD1, NF2, NFS1, NFU1, NHS, NIPAL3, NKX2-5, NME8, NMNAT1, NOD2, NODAL, NOS3,  NOTCH2, NOTCH3, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRCAM, NRL, NSUN3, NTF4, NUBPL,  NUTF2, NXNL1, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPA5, OPN1LW, OPN1MW, OPN1SW,  OPTC, OPTN, OR2W3, OTC, OTOGL, OTX2, OXA1L, P3H2, PANK2, PARS2, PAX2, PAX3, PAX6, PC,  PCARE, PCCA, PCCB, PCDH15, PCK2, PCLO, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H,  PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PDXK, PDZD7, PEAK1, PEOA1, PEOA3, PET100,  PET117, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6,  PEX7, PGK1, PHYH, PIBF1, PIK3R1, PITPNM3, PITRM1, PITX2, PITX3, PKM, PLA2G5, PLA2G6, PLD1,  PLD3, PLEC, PLK4, PLOD1, PLOD3, PMP22, PMPCA, PMPCB, PNPLA2, PNPLA6, PNPLA8, PNPT1, POC1B,  POC5, POLG, POLG2, POLRMT, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, PON2, PORCN,  PPA2, PPT1, PRCD, PRDM13, PRDM5, PREPL, PRICKLE3, PRKCI, PROM1, PROS1, PROX1, PRPF3,  PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRR12, PRSS56, PRX, PTCD1, PTCD3, PTCH1, PTPRU,  PUS1, PXDN, PYGM, QARS1, QRSL1, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RAPSN, RARB,  RARS1, RARS2, RAX, RAX2, RB1, RBMS3, RBP3, RBP4, RCBTB1, RCD1, RD3, RDH11, RDH12, RDH5,  RECQL4, REEP1, REEP6, RERE, RGR, RGS6, RGS9, RGS9BP, RHEX, RHO, RHOBTB2, RIMS1, RIMS2,  RLBP1, RMND1, RNANC, RNASEH1, RNLS, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1,  RPGRIP1L, RPH3A, RPL10, RPL15, RPS19, RRAGA, RRM2B, RS1, RSPH4A, RSPH9, RTBDN, RTN4IP1,  RYR1, SACS, SAG, SALL2, SAMD11, SARS2, SBF2, SC5D, SCAPER, SCARF2, SCLT1, SCN4A, SCO1,  SCO2, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHAF4, SDHB, SDHC, SDHD, SEC23A, SEMA3A,  SEMA4A, SEMA6A, SERAC1, SETX, SFXN4, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX1, SIX3, SIX5, SIX6,  SLC16A12, SLC18A3, SLC19A2, SLC19A3, SLC1A5, SLC22A5, SLC24A1, SLC24A5, SLC25A1, SLC25A12,  SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A26, SLC25A3, SLC25A32, SLC25A33,  SLC25A38, SLC25A4, SLC25A40, SLC25A42, SLC25A46, SLC2A1, SLC33A1, SLC37A4, SLC38A8,  SLC39A13, SLC44A1, SLC45A2, SLC4A4, SLC4A7, SLC52A2, SLC52A2, SLC5A7, SLC6A15, SLC6A8,  SLC7A14, SMOC1, SNAI2, SNAP25, SNRNP200, SNX10, SNX3, SOD1, SOX1, SOX10, SOX2, SOX3, SPAST,  SPATA5, SPATA7, SPG11, SPG15, SPG2, SPG35, SPG45, SPG46, SPG54, SPG55, SPG57, SPG68, SPG7,  SPINT2, SPP2, SRD5A3, SREBF2, SSBP1, STARD9, STAT2, STEAP1, STEAP2, STK38L, STRA6, SUCLA2,  SUCLG1, SUFU, SUOX, SURF1, SYNE2, SYT2, SYTL4, TACO1, TACR1, TARS2, TAZ, TBC1D20, TBC1D32,  TBCE, TBK1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM3, TFAM, TFAP2A, TFB1M, TGFBI,  THBS1, TIMM22, TIMM50, TIMM8A, TIMMDC1, TIMP3, TK2, TKFC, TLCD3B, TLR3, TLR4, TMCO1,  TMED3, TMED7, TMEM107, TMEM114, TMEM126A, TMEM126B, TMEM136, TMEM138, TMEM216,  TMEM218, TMEM231, TMEM237, TMEM65, TMEM67, TMEM70, TMEM98, TNPO1, TNXB, TOP3A,  TOPORS, TOR1AIP1, TPK1, TPP1, TRAF7, TRAPPC6A, TREX1, TRIM32, TRIT1, TRMT10C, TRMT5,  TRMU, TRNT1, TRPM1, TSFM, TSPAN12, TTC14, TTC19, TTC21B, TTC8, TTLL5, TTPA, TTR, TUB,  TUBB4B, TUBGCP4, TUBGCP6, TUFM, TULP1, TWNK, TYMP, TYR, TYRP1, TXNRD2, UBIAD1, UCHL1,  UNC119, UNC13A, UNC45B, UPF3B, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11, UQCRB, UQCRC2,  UQCRQ, USH1C, USH1G, USH2A, USH2C, USH2D, VAMP1, VARS2, VAX1, VAX2, VCAN, VHL, VIM,  VPS13B, VSX1, VSX2, WARS2, WDPCP, WDR17, WDR19, WDR34, WDR35, WDR36, WDR73, WDR87,  WFS1, WFS2, WHRN, WRN, XPNPEP3, XYLT2, YARS2, YBX1, YME1L1, ZEB2, ZFYVE26, ZIC3, ZNF408,  ZNF423, ZNF469, ZNF513, ZNHIT3.