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- Molecular diagnosis of amaurosis congenita of Leber (RPE65,GUCY2D,RDH12, AIPL1,CRX,CRB1,RPGRIP1,LRAT,MERTK, CEP290,TULP1 genes)
- Azienda Ospedaliera Universitaria Careggi
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- Molecular diagnosis of retinitis pigmentosa autosomal recessive (CNGA1, CNGB1, MERTK, PDE6A, PDE6B, PNR, RDH12, RGR, RLBP1, SAG, TULP1, LRAT, CRB1, RPE65, USH2A, USH3A genes)
- Azienda Ospedaliera Universitaria Careggi
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- Molecular diagnosis of Leber congenital amaurosis (RPE65, GUCY2D, RDH12 genes)
- Azienda Ospedaliera Universitaria Careggi
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- GERMANY
- Rheinland-Pfalz
- INGELHEIM AM RHEIN
- Molecular diagnosis of amaurosis congenita of Leber (genes: AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, LCA5, LRAT, RDH12, RD3, RPE65, RPGRIP, SPATA7, TULP1: sequencing, linkage analysis)
- Bioscientia Institut für Medizinische Diagnostik GmbH
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- GERMANY
- Rheinland-Pfalz
- INGELHEIM AM RHEIN
- Molecular diagnosis of autosomal recessive retinitis pigmentosa (ABCA4, ARL6, CERKL, CNGA1, CNGB1, CRB1, EYS, IDH3B, LRAT, MERTK, NR2E3, PDE6A, PDE6B, PROM1, RGR, RHO, RLBP1, RP1, RPE65, SAG, TULP1 genes: sequencing, linkage analysis)
- Bioscientia Institut für Medizinische Diagnostik GmbH
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- BELGIUM
- OOST-VLAANDEREN
- GENT
- Molecular diagnosis of amaurosis congenita of Leber (CEP290/NPHP6, GUCY2D, AIPL1, CRX, CRB1, RPE65 genes)
- Ghent University Hospital - UZGent
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- GERMANY
- Bayern
- REGENSBURG
- Molecular diagnosis of amaurosis congenita of Leber (APEX chip: GUCY2D, RPE65, RDH12, AIPL1, RPGRIP1, CRX, CRB1, LRAT, MERTK, CEP290 genes)
- Universitätsklinikum Regensburg
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- GERMANY
- Bayern
- REGENSBURG
- Molecular diagnosis of retinitis pigmentosa (RetChip 1.0: ABCA4, AIPL1, CA4, CEP290, CERKL, CNGA1, CNGB1, CRB1, CRX, FSCN2, GRK1, GUCA1B, GUCY2D, IMPDH1, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPH2, RDH12, RGR, PRPF8, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, TTC8, TTPA, TULP1, USH2A genes)
- Universitätsklinikum Regensburg
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- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis of Leber Congenital Amaurosis type 1, 2, 4, 5, 8, 10, 13 and 14 (GUCY2D, RPE65, AIPL1, LCA5, CRB1, CEP290, RDH1 and LRAT gene)
- UMC St Radboud - Universitair Medisch Centrum St Radboud
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- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis of Autosomal Dominant Retinitis Pigmentosa (PRPH2 and RPE65 gene)
- UMC St Radboud - Universitair Medisch Centrum St Radboud
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- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis of Autosomal Recessive Retinitis Pigmentosa type 12, 20, 26, 37, 39, 40, 41, 43, 44, 49, 53 and 56 (CRB1, RPE65, CERKL, NR2E3, USH2A, PDE6B, PROM1, PDE6A, RGR, CNGA1, RDH12 and IMPG2 gene)
- UMC St Radboud - Universitair Medisch Centrum St Radboud
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- Molecular diagnosis of amaurosis congenita of Leber (AIPL1, CRB1, CRX, GUCY2D, LRAT, TULP1, MERTK, RPE65, RPGRIP1, CEP290, RDH12, SPATA7 and LCA5 genes) : genotyping by arrayed primer extension (APEX) and mutation detection
- Asper Biotech Ltd.
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- Molecular diagnosis of autosomal recessive retinitis pigmentosa (CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, RGR, RLBP1, SAG, TULP1, CRB1, RPE65, PNR, RDH12, USH3A, LRAT, PROM1, and USH2A genes) : genotyping by arrayed primer extension (APEX)
- Asper Biotech Ltd.
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- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of amaurosis congenita of Leber (AIPL1, CEP290, CNGA3, CRX, GUCY2D, IMPDH1, LCA5, LRAT, RD3, RDH12, RPE65, SPATA7, TULP1 genes)
- Institute of Molecular Diagnostics
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- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of autosomal recessive retinitis pigmentosa (ABCA4, ARL6, C2ORF71, CERKL, CNGA1, CNGB1, CRB1, EYS, FAM161A, IDH3B, IMPG2, MERTK, NR2E3, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RDH12, RGR, RHO, RP1, RPE65, SAG, SEMA4A, TTC8, TULP1, USH2, ZNF513 genes: NGS Screening Panel)
- Institute of Molecular Diagnostics
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of retinitis pigmentosa (AIPL1, ABCA4, ARL6, BEST1, CA4, CERKL, CNGA1, CNGB1, CRB1, CRX, C2ORF71, EYS, FAM161A, FSCN2, GUCA1B, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RPE65, RPGR, RP1, RP2, RP9, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513 genes)
- CeGaT GmbH
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of amaurosis congenita of Leber (AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, LCA5, LRAT, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 genes: sequencing)
- CeGaT GmbH
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- Molecular diagnosis of Leber congenital amaurosis (RPE65 gene)
- Biotecnologie Avanzate Srl
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- Molecular diagnosis of retinitis pigmentosa (51 genes)
- Hospital Universitario Virgen del Rocío
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- Molecular diagnosis of Leber congenital amaurosis (GUCY2D, RPE65, AIPL1, and CRB1 genes)
- Medizinische Universität Wien
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- SPAIN
- Comunidad Valenciana
- PATERNA
- Molecular diagnosis of retinitis pigmentosa (36 genes)
- Sistemas Genómicos S.L.
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- SWITZERLAND
- Suisse Alémanique
- SCHWERZENBACH
- Molecular diagnosis of Congenital Leber amaurosis (RPE65 and AIPL1 genes)
- Universität Zürich
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- Molecular diagnosis of amaurosis congenita of Leber (CRB1, AIPL1, GUCY2D, CRX, RPE65, RPGRIP1, MERTK and LRAT genes)
- Tartu University Hospital
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- Molecular diagnosis of retinitis pigmentosa (analysis of 32 genes)
- Tartu University Hospital
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- Molecular diagnosis of retinitis pigmentosa (35 genes)
- Fundación Jiménez Díaz
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- Molecular diagnosis of congenital Leber amaurosis (AIPL1, CRB1, CRX, GUCY2D, LRAT, CEP290, RDH12, RPGRIP1, RPE65, TULP1, LCA5, SPATA7 genes)
- Fundación Jiménez Díaz
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- SWITZERLAND
- Suisse Romande
- SION
- Molecular diagnosis of Retinitis pigmentosa (RPE65, RP1, RDS, RHO, RPGR and USH2A genes)
- Institut de Recherche en Ophtalmologie - IRO
- More information
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- Molecular diagnosis of congenital Leber amaurosis (CRX, IMPDH1, RD3, RPE65 and RPGRIP1 genes)
- Universitat de Barcelona. Facultat de Biologia
- More information
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- Molecular diagnosis of retinitis pigmentosa (ABCA4, BEST1, CERKL, CRB1, CRX, IMPDH1, MERTK, NRL, NR2E3, PDE6B, PROM1, RGR, RHO, RPE65, RPGR, RP1, RP2, PRPH2 and TOPORS genes)
- Universitat de Barcelona. Facultat de Biologia
- More information
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of autosomal dominant retinitis pigmentosa (NGS Screening Panel - genes: BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PAP1, PRPF3, PRPF31, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS)
- Universitätsklinik Tübingen
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of congenital Leber amaurosis (NGS Screening Panel - genes: AIPL1, CEP290, CRB1, CRX, GUCY2D, IQCB1, LRAT, RDH5, RDH12, RPGRIP1, RPE65, SPATA7)
- Universitätsklinik Tübingen
- More information
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of autosomal recessive retinitis pigmentosa (NGS Screening Panel - genes: ABCA4, BBS1, BEST1, C2ORF71, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, IDH3B, IMPG2, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1, RBP3, RGR, RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, SPATA7, TTC8, TULP1, USH2A, ZNF513)
- Universitätsklinik Tübingen
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Molecular diagnosis of Leber Congenital Amaurosis (CRB1, RPE65, CRX, GUCY2D, AIPL1 and RPGRIP1 gene)
- NIN - Netherlands Institute for Neuroscience
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Molecular diagnosis of Retinitis Pigmentosa (RDS, RHO, RPE65, CRB1, ABCR, RPGR, RP2 and RP3 gene)
- NIN - Netherlands Institute for Neuroscience
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- SPAIN
- Madrid
- SAN SEBASTIÁN DE LOS REYES
- Molecular diagnosis of congenital Leber amaurosis (GUCY2D, CEP290, RPE65, CRB1, AIPL1, RPGRIP1, RDH12 and CRX genes: MLPA and entire coding sequence - LCA5, TULP1, LRAT, KCNJ3, RD3, SPATA7 and IMPDH1: entire coding sequence)
- LABORATORIO DE GENÉTICA CLÍNICA S.L.
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- SPAIN
- Madrid
- SAN SEBASTIÁN DE LOS REYES
- Molecular diagnosis of retinitis pigmentosa (entire coding sequence of RHO, PRPF31, RP1, PRPH2, RPE65, PDE6B, PDE6A, ABCA4, CRB1, CERKL, RPGR, IMPDH1, PRPF3, EYS, SAG and RP2 genes; RP1 gene / mutations Arg677stop and 2280del5; USH2A gene / sequence of exons 1-21)
- LABORATORIO DE GENÉTICA CLÍNICA S.L.
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- Molecular diagnosis of congenital Leber amaurosis (sequencing of RPGRIP1, LRAT and RPE65 genes)
- GENYCA INNOVA
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- Molecular diagnosis of retinitis pigmentosa (RHO, LRAT, RPE65, MERTK, RP2 and RPGR genes)
- GENYCA INNOVA
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