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8 Result(s)

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Speciality(ies)/objective(s)
(6)
(1)
Technique(s)
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(1)
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(8)
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(6)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of corneal dystrophy (NGS panel: CHST6, COL5A1, COL8A2, CYP4V2, DCN, GSN, KRT3, KRT12, LOXHD1, PIKFYVE, PRDM5, SLC4A11, SOD1, ZEB1, ZNF469, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1; APEX panel: COL8A2, TGFBI, VSX1, CHST6, KRT3, KRT12, GSN, TACSTD2, CYP4V2, SOD1, ZEB1, SLC4A11, UBIAD1)
    • Asper Biotech Ltd.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Molecular diagnosis of corneal dystrophies (DCN, SLC4A11 genes)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of SLC4A11 gene associated corneal dystrophies
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of corneal dystrophy (TGFBI CHST6, ZEB1, VSX1, FOXE3, UBIAD1 genes)
    • CHU Paris Centre - Hôpital Cochin
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : Sanger sequencing, PCR based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Corneal Dystrophy (BIGH3/TGFBI, KRT3, KRT12, Gelsolin and CYP4V2 genes)
    • Institut de Recherche en Ophtalmologie - IRO
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Romande
    • SION
    • Molecular diagnosis of corneal dystrophy (TGFBI gene)
    • B.I.R.D. Foundation
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • VENETO
    • COSTOZZA DI LONGARE
    • Molecular diagnosis of corneal dystrophy (COL8A, TGFBI, VSX1, CHST6, KRT3, KRT12, GSN, TACSTD2, CYP4V2, ZEB1, SLC4A11, UBIAD1 genes / Chip CD)
    • Fundación Jiménez Díaz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of Fuchs endothelial corneal dystrophy (COL8A2 gene)
    • Universitat de Barcelona. Facultat de Biologia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA