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18 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
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(2)
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(1)
(1)
Purpose(s)
(1)
(17)
Quality management
(3)
(13)
Country(ies)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Primary Glaucoma (MYOC, OPTN and CYP1B1 gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • 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 posterior polymorphous corneal dystrophy (VSX1 gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • 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, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, PCR based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of hereditary glaucoma (MYOC, OPTN genes)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • 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 Hereditary Glaucoma (CYP1B1 and MYOC 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 hereditary glaucoma (MYOC, OPTN, CYP1B1 genes)
    • NZOZ Centrum Genetyki Medycznej Genesis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Poznan
    • POZNAN
    • 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 hereditary glaucoma (CYP1B1 gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of hereditary glaucoma (MYOC, OPTN, WDR36 genes: mutation screening ; CYP1B1: prenatal screening)
    • Kennedy Center
    • Purpose(s) : Antenatal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • More information
    • DENMARK
    • Sjælland
    • GLOSTRUP
    • Molecular diagnosis of posterior polymorphous corneal dystrophy (VSX1, ZEB1 genes)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of posterior polymorphous corneal dystrophy (VSX1 gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of hereditary glaucoma (CYP1B1 and MYOC/TIGR genes)
    • Ospedale Niguarda Ca' Granda
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of hereditary glaucoma (MYOC and CYP1B1 gene sequencing)
    • Institute of Child Health
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Molecular diagnosis of congenital glaucoma (entire coding sequence of CYP1B1, OPTN, MYOC, WDR36 and LTBP2 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of hereditary glaucoma (sequencing of CYP1B1 and MYOC genes)
    • Genyca Innova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MAJADAHONDA