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20 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
    • Medizinisch Genetisches Zentrum 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
    • Molecular diagnosis of Thiamine-responsive megaloblastic anaemia - TRMA (SLC19A2 gene)
    • Royal Devon and Exeter Hospital - Wonford site
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Devon
    • EXETER
    • Accreditation
    • Molecular diagnosis of Thiamine-Responsive Megaloblastic Anemia (SLC19A2 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Deafness (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
    • 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
    • Molecular diagnosis of Thiamine-responsive megaloblastic anaemia syndrome (SLC19A2 gene)
    • University Medical Centre Ljubljana
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SLOVENIA
    • SLOVENIA
    • LJUBLJANA
    • 'Molecular diagnosis of sideroblastic anemia : X-linked forms (ALAS2 gene) ; autosomal recessive forms (GLRX5 and SLC25A38 genes) ; SIFD syndrome (TRNT1 gene) ; Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)'
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • 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) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
    • Helmholtz Zentrum 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
    • Molecular diagnosis of Sideroblastic anemia
    • Cardiff & Vale University Health Board
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • South Glamorgan
    • CARDIFF
    • Molecular diagnosis of Constitutional sideroblastic anemia (SLC25A38 gene)
    • Cardiff & Vale University Health Board
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • South Glamorgan
    • CARDIFF
    • Molecular diagnosis of Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 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
    • Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene / entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (Rogers syndrome, SLC19A2 gene)
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • 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
    • LUDWIGSHAFEN
    • Molecular diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
    • Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
    • 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
    • ULM
    • Diagnosis of thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene)
    • 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
    • Technical procedure(s) : Sanger sequencing
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Allgemeines Krankenhaus der Stadt Wien
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Constitutional sideroblastic anemia (SLC25A38 gene)
    • King's College Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Molecular diagnosis of Thiamine-responsive megaloblastic anaemia - TRMA (SLC19A2 gene)
    • King's College Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON