Secuenciación masiva y cribado bioinformático de CNVs, panel de 53 genes: AARS1, ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CHST14, COL17A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL7A1, DSE, DSP, DST, EDARADD, EGFR, ERCC3, ERCC4, EXPH5, FBLN5, FBN1, FERMT1, FKBP14, FLCN, FLNA, IPO8, ITGA3, KREMEN1, LAMB3, OSMR, PDGFRB, PLOD1, PRDM5, RIN2, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, TGM5, TNXB, TUFT1, TWIST2, WDR19, WRN, ZNF469, ZNF750

Secuenciación masiva y cribado bioinformático de CNVs, panel de 113 genes: AEBP1, AGPAT2, AP1S1, AP3B1, AP3D1, ATP7A, BANF1, BLM, BLOC1S3, BLOC1S5, BLOC1S6, BRAF, BSCL2, C1R, C1S, CLCN7, COL17A1, DDB2, DKC1, DSG1, DTNBP1, EBP, EDN3, EDNRB, ELOVL4, ENPP1, EOGT, EPG5, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FERMT1, FGFR2, FGFR3, FLG, FLNA, GJA1, GJB4, GJB6, GTF2H5, HPS1, HPS3, HPS4, HPS5, HPS6, INSR, IPO8, KDSR, KIT, KITLG, KLHL24, KRT1, KRT10, KRT14, KRT5, KRT83, LAMA3, LAMB3, LMNA, LRMDA, LYST, MC1R, MITF, MYO5A, NDUFB11, NF2, NHP2, NIPAL4, NOP10, OCA2, PARN, PAX3, PLCD1, PLEC, POLH, POLR3A, POMP, PORCN, RAB27A, RECQL4, RIN2, RTEL1, SHOC2, SLC24A5, SLC27A4, SLC30A2, SLC39A4, SLC45A2, SMARCAD1, SMARCC2, SNAI2, SOX10, SPINK5, SPRED1, TERC, TERT, TINF2, TP63, TSC1, TSC2, TYMS, TYR, TYRP1, UBR1, USB1, WRAP53, XPA, XPC, ZMPSTE24, ZNF750

Secuenciación Sanger de la región ORF15 del gen RPGR

Secuenciación masiva y cribado bioinformático de CNVs, panel de 311 genes: ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTSL4, ADGRV1, ADIPOR1, AGBL5, AHI1, AHR, AIPL1, AIRE, ALDH1A3, ALDH3A2, ALMS1, ALPK1, AMACR, APOE, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, C1QTNF5, C9, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFAP418, CFH, CFHR1, CFHR3, CFI, CHM, CHRDL1, CIB2, CLCC1, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COG4, COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COQ2, CRB1, CRPPA, CRX, CRYAB, CSPP1, CST3, CTC1, CTNNA1, CTNNB1, CTSD, CWC27, CX3CR1, CYP4V2, DHDDS, DHX38, DRAM2, DYNC2H1, EFEMP1, ELOVL4, EPHA2, ERCC6, ERCC8, ESPN, EXOSC2, EYS, FAM161A, FBN2, FDXR, FLVCR1, FSCN2, FZD4, GDF6, GDPD1, GNAT1, GNB3, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HGSNAT, HK1, HMX1, HTRA1, IDH3A, IDH3B, IDS, IFT140, IFT172, IFT27, IFT43, IFT74, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, JAG1, KCNJ13, KCNV2, KIAA0753, KIAA1549, KIF11, KIF3B, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP2, LRP5, LYST, LZTFL1, MAF, MAK, MAPKAPK3, MERTK, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP, MVK, MYO6, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OTX2, P3H2, PANK2, PAX2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX12, PEX2, PEX5, PEX6, PEX7, PGK1, PHYH, PISD, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POMGNT1, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRR12, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, SAG, SCAPER, SDCCAG8, SEMA4A, SIX6, SLC19A2, SLC24A1, SLC25A46, SLC6A6, SLC7A14, SNRNP200, SPATA7, SSBP1, TEAD1, TENM3, TIMP3, TLCD3B, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM67, TOPORS, TPP1, TRAF3IP1, TREX1, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VPS13B, WDR19, WFS1, WHRN, WRN, XYLT2, YPEL2, ZNF408, ZNF423

Detección de deleciones/duplicaciones en los genes OPN1LW y OPN1MW mediante MLPA

Secuenciación masiva y cribado bioinformático de CNVs, panel de 92 genes: ADAMTS2, AEBP1, ANAPC1, AP3B1, ARHGAP31, ARID2, ATP6V0A2, ATP6V1B2, AXIN2, B4GALT7, BANF1, BLM, C1R, CHST3, CLDN1, COL11A1, COL17A1, COL1A1, COL3A1, CTSC, CTSK, DKC1, DLX3, DSE, DSP, EDA, EDAR, EDARADD, ERCC8, EVC, FERMT1, FGF10, GJA1, GREM2, GRHL2, GRHL3, GTF2H5, HEPHL1, ITGB4, KCTD1, KRT10, LAMA3, LAMB3, LMNA, LRP6, LTBP3, MARS1, MBTPS2, MPLKIP, MSX1, NDUFB11, NECTIN1, NECTIN4, NFKBIA, PARN, PAX9, PDGFRB, PEX1, PIGL, PLEC, POC1A, POLR3A, PORCN, PRKD1, PTH1R, RECQL4, RMRP, RNF113A, ROGDI, SETBP1, SLC25A24, SLC39A13, SMARCB1, SOS1, SOX10, SOX4, ST14, TBX3, TERC, TERT, TINF2, TP63, TRPS1, TSPEAR, TWIST2, UBR1, WDR19, WDR35, WNT10A, WNT10B, ZMPSTE24, ZNF469

Secuenciación masiva y cribado bioinformático de CNVs, panel de 102 genes: ANAPC1, TUFT1, ABCA5, ABHD5, ADAMTS2, AGPAT2, ALOX12B, ANTXR1, AP1B1, APCDD1, ARHGAP31, ARID1B, AARS1, ATP6V1B2, AXIN2, BCS1L, BLM, BSCL2, CDH1, CDH3, CDSN, CERS3, CHUK, CLDN1, COL17A1, COL3A1, CST6, CTNND1, DSG1, DSG4, EBP, EDA, EDAR, EDARADD, EGFR, ERCC2, ERCC3, ERCC6, FREM1, GJA1, GJB2, GJB4, GJB6, GTF2E2, GTF2H5, HEPHL1, HOXC13, HR, IFT122, INSR, ITGA3, KRAS, KREMEN1, KRT10, KRT14, KRT17, KRT25, KRT71, KRT74, KRT83, KRT85, LAMB3, LIPH, LMNA, LPAR6, LSS, LTBP3, MBTPS2, MPLKIP, NECTIN1, NECTIN4, PEX7, PKP1, POLR3A, PORCN, RAB27A, RECQL4, RIN2, RIPK4, RMRP, RNF113A, SETBP1, SLC25A24, SLC30A2, SLC39A4, SMARCA4, SMARCB1, SNRPE, SOX11, SOX18, SPINK5, TARS1, TGM1, TINF2, TP63, TRPV3, TSPEAR, TWIST2, WDR35, WNT10A, WNT10B, ZMPSTE24

Secuenciación masiva y cribado bioinformático de CNVs, panel de 37 genes: ACADM, ACADS, ACADVL, ALDH18A1, ARG1, ASL, ASS1, CA5A, CPS1, CPT1A, CPT2, GLUD1, GLUL, HADHA, HADHB, HLCS, HMGCL, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGS, NBAS, OAT, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, TMEM70

Secuenciación masiva y cribado bioinformático de CNVs, panel de 3 genes: GAMT, GATM, SLC6A8

Secuenciación masiva y cribado bioinformático de CNVs, panel de 85 genes: ABHD12, ACO2, ADAM9, AFG3L2, ALDH1A3, ALPK1, ANTXR1, ARL3, ATAD3A, ATOH7, AUH, C19orf12, CDHR1, CISD2, CLN3, CPAMD8, CRPPA, CTC1, DNAJC19, DNM1L, ERCC8, FDXR, FGFR2, FLVCR1, GJC2, GRN, HESX1, IDH3A, IFT74, ISCA2, KIF11, KIF7, MECR, MFN2, MFSD8, MMP19, MTPAP, MTRFR, MVK, NARS2, NDUFS1, NMNAT1, NR2F1, OPA1, OPA3, OTX2, PANK2, PDSS1, PEX16, PEX5, PEX6, PISD, PLK4, PNPLA6, POLG, POMGNT1, PORCN, PPT1, PRPS1, PRR12, RAB18, RAB3GAP1, RAB3GAP2, RTN4IP1, SLC19A2, SLC25A46, SLC38A8, SLC52A2, SNX10, SOX2, SPG7, SSBP1, STRA6, TBC1D20, TIMM8A, TMEM126A, TSFM, TUBB3, TWNK, UCHL1, VCAN, VPS13B, WFS1, YME1L1, ZNHIT3 y análisis del genoma mitocondrial

Secuenciación masiva y cribado bioinformático de CNVs, panel de 15 genes: ATF6, CDHR1, CNGA3, CNGB3, CNNM4, GNAT2, GNB3, MERTK, OPN1SW, PDE6C, PDE6H, PITPNM3, POLG, SSBP1, TMEM126A

Secuenciación masiva y cribado bioinformático de CNVs, panel de 27 genes: AIPL1, CABP4, CEP164, CEP290, CRB1, CRX, DYNC2H1, GDF6, GUCY2D, IDH3A, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, PRPH2, RD3, RDH12, ROM1, RPE65, RPGRIP1, SPATA7, TUBB4B, TULP1, USP45, ZNF423

Detección de deleciones/duplicaciones en los genes GUCY2D, RDH12 y RPGRIP1 mediante MLPA

Detección de deleciones/duplicaciones en los genes AIPL1, CRB1, CRX, LCA5 y RPE65 mediante MLPA

Secuenciación Sanger del gen AIPL1

Secuenciación Sanger del gen KCNJ2

Secuenciación Sanger del gen KCNJ2

Secuenciación masiva y cribado bioinformático de CNVs, panel de 79 genes: ABCB7, ABCG5, ABCG8, ADA2, ADAMTS13, AK1, ALAS2, AMN, ANK1, ATRX, CBLIF, CD59, CDAN1, CDIN1, CUBN, DHFR, DNAJC21, EPB41, EPB42, ETV6, G6PD, GATA1, GCLC, GLRX5, GPI, GSS, HBB, HEATR3, HK1, HMOX1, KCNN4, KIF23, KLF1, LPIN2, MECOM, MPIG6B, MTHFD1, MTR, NBN, NT5C3A, PIEZO1, PKLR, PRF1, PUS1, RACGAP1, RHAG, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35A, RPL5, RPL9, RPS10, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, SBDS, SEC23B, SLC11A2, SLC19A2, SLC25A38, SLC4A1, SPTA1, SPTB, TCN2, TF, TMPRSS6, TPI1, TSR2, YARS2

Secuenciación Sanger del gen GATA1

Secuenciación Sanger del gen GATA1