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14 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular cytogenetic test for ICF syndrome
    • University Hospitals Leuven - Gasthuisberg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • BELGIUM
    • VLAAMS BRABANT
    • LEUVEN
    • Accreditation
    • Cytogenetic diagnosis of ICF syndrome
    • St Mary's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size
    • Technical procedure(s) : Karyotyping
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Cytogenetic diagnosis of ICF syndrome (by conventional karyotyping)
    • University Hospital of Wales
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size
    • Technical procedure(s) : Karyotyping
    • More information
    • UNITED KINGDOM
    • South Glamorgan
    • CARDIFF
    • Accreditation
    • Cytogenetic diagnosis of ICF syndrome (by chromosome analysis)
    • Birmingham Women's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size
    • Technical procedure(s) : Karyotyping
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Molecular Diagnosis of Mismatch Repair Cancer Syndrome (MSH6 gene: targeted mutation analysis)
    • The Churchill Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Molecular diagnosis of ICF syndrome (DNMT3B gene)
    • DRK Baden-Württemberg/ Hessen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Accreditation
    • Molecular diagnosis of Nucleotide Excision Repair Disorder (Gene Panel; 16 genes: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
    • Guy's Hospital
    • 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)
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Cytogenetic Diagnosis of Chromosomal Breakage/Instability Syndrome (chromosomal breakage analysis)
    • Alberta Children's Hospital
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size, Chromosomal instability
    • Technical procedure(s) : Karyotyping
    • More information
    • CANADA
    • Alberta
    • CALGARY
    • Cytogenetics diagnosis of ICF syndrome
    • P.S.I. "Elena d'Aosta"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size
    • Technical procedure(s) : Karyotyping
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Cytogenetics diagnosis of ICF syndrome
    • Azienda Ospedaliero Universitaria "Policlinico Vittorio Emanuele"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size
    • Technical procedure(s) : Karyotyping
    • More information
    • ITALY
    • SICILIA
    • CATANIA
    • Cytogenetic diagnosis of ICF syndrome
    • Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size
    • Technical procedure(s) : Karyotyping
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • UDINE
    • Molecular diagnosis of ICF syndrome (DNMT3B gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Immunological diagnosis of primary immunodeficiencies (PID) - Immunophenotyping including adhesion molecules
    • Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Cytogenetic diagnosis of chromosomal breakage syndromes
    • CHUQ - Hôpital Saint-Francois d'Assise
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Uniparental disomy study
    • More information
    • CANADA
    • Québec
    • QUÉBEC