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21 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(21)
(3)
(4)
(12)
Technique(s)
(10)
(5)
Purpose(s)
(2)
(21)
(1)
Quality management
(13)
(19)
Country(ies)
(1)
(3)
(8)
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(1)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Achromatopsia type 2, 3 and 5 (CNGA3, CNGB3 and PDE6C gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of achromatopsia (CNGA3, CNGB3, GNAT2 genes)
    • Universitätsklinikum Regensburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Accreditation
    • Molecular diagnosis of achromatopsia (ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H genes: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of achromatopsia (CNGB3 genes)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of RPGR gene associated retinal diseases
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of achromatopsia (CNGB3, PDE6C and CNGA3 genes)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of achromatopsia (CNGA3, CNGB3, PDE6C genes: sequencing)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of achromatopsia (CNGA3, CNGB3, PDE6C genes)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of achromatopsia (CNGB3, CNGA3, GNAT2 and PDE6C genes)
    • Azienda Ospedaliero Universitaria Careggi
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Accreditation
    • Molecular diagnosis of achromatopsia (CNGB3 gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of achromatopsia (CNGB3, CNGA3, PDE6C genes: sequencing)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Diagnosis of cone rod dystrophy (Panel)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Diagnosis of achromatopsia (Panel)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of achromatopsia (CNGA3, CNGB3, GNAT2 genes)
    • Fundación Jiménez Díaz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of achromatopsia (CNGB3, CNGA3, GNAT2 and PDE6C genes)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of achromatopsia (CNGA3 and CNGB3 genes)
    • Medizinische Universität Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Achromatopsia (PDE6C gene: Sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Diagnosis of achromatopsia (CNGA3, CNGB3, GNAT2, PDE6C genes)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Postnatal molecular diagnosis of achromatopsia (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, ATF6 genes)
    • MAGI'S LAB srl
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • ITALY
    • TRENTINO ALTO ADIGE
    • ROVERETO
    • Molecular diagnosis of achromatopsia (NGS Screening Panel - genes: CNGB3, CNGA3, GNAT2, PDE6C)
    • Forschungsinstitut für Augenheilkunde
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Diagnosis of achromatopsia (CNGB3, CNGA3, GNAT2, PDE6C genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES