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31 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation ;

    • Accreditation
    • Molecular diagnosis of Severe Congenital Neutropenia (ELANE, HAX1, G6PC3 and WAS gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular Diagnosis of Autoinflammatory Disease/Recurrent Fever Syndrome NGS Panel and Del/Dup Analysis (17 genes)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), Array based techniques
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Molecular diagnosis of autosomal dominant severe congenital neutropenia (GFI1, ELANE genes / sequence analysis entire coding region)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of cyclic neutropenia (ELANE gene: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Severe Congenital Neutropenia (ELA2 gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of severe congenital neutropenias (ELANE, G6PC3, HAX1, TAZ genes)
    • Institut für Laboratoriumsmedizin und Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • SINGEN /HTWL.
    • Molecular diagnosis of severe congenital neutropenias (ELANE, HAX1, G6PC3 and JAGN1 genes)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of severe congenital neutropenia (ELA2 gene)
    • Hospital Clínic i Provincial de Barcelona
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of congenital neutropenia (CSF3R gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Molecular diagnosis of cyclic/congenital neutropenia (ELA2 gene)
    • Karolinska University Hospital - Clinical Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of cyclic/congenital neutropenia (HAX1 gene)
    • Karolinska University Hospital - Clinical Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of Neutropenia severe congenital (ELA2 gene)
    • University Medical Centre Ljubljana
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SLOVENIA
    • SLOVENIA
    • LJUBLJANA
    • Molecular diagnosis of autosomal dominant severe congenital neutropenia. HAX1 gene.
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of autosomal dominant severe congenital neutropenia (ELA2, GFI1 genes)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of autosomal dominant severe congenital neutropenia (G6PC3 gene)
    • Hospital Clínic i Provincial de Barcelona
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of cyclic neutropenia and severe congenital neutropenia (ELANE gene): sequencing of the entire coding gene
    • Hosp. Pediátrico e Hosp. Covões - Centro Hospitalar e Universitário de Coimbra
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • PORTUGAL
    • CENTRO
    • COIMBRA
    • Molecular diagnosis of congenital neutropenia (ELA2 gene): sequencing of the entire coding region.
    • Faculdade de Medicina da Universidade de Lisboa
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • SUL
    • LISBOA
    • Molecular diagnosis of autosomal dominant severe congenital neutropenia (ELANE gene / complete sequencing)
    • 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 autosomal dominant severe congenital neutropenia (ELANE gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of autosomal dominant severe congenital neutropenia (ELANE, GFI1 genes / sequencing)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of severe congenital neutropenia, type 2, AD (GFI1 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 neonatal neutropenias (search for antibodies, identification of HNA group)
    • CHU de Nantes - Institut de Biologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Immunology
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : PCR based techniques
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • NANTES
    • Neonatal neutropenias : search for antibodies, identification
    • EFS Ile de France - Site Henri Mondor
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Molecular diagnosis of severe congenital neutropenias (ELANE, G6PC3, HAX1 and CSF3R genes)
    • Medizinische Hochschule Hannover
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Molecular diagnosis of severe congenital neutropenia (ELANE, HAX1, GFI1, G6PC3, WAS and CSF3R gene sequencing)
    • Schneider Children's Medical Center of Israel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • PETAH TIKVA
    • Diagnosis of severe congenital neutropenia (HAX1, G6PC3, CSF3R genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Antenatal diagnosis, Pre-implantation 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
    • Molecular diagnosis of severe congenital neutropenia (ELANE, HAX1, GFI1, G6PC3 genes)
    • Azienda Ospedaliera Spedali Civili di Brescia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • BRESCIA
    • 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
    • Molecular diagnosis of congenital neutropenia (ELANE, HAX1, CXCR4, GFI1, WAS genes: sequencing)
    • Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Lodz
    • LODZ
    • Molecular diagnosis of cyclic/congenital neutropenia (ELA2 gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Immunochemical diagnosis of TLR signaling defect (cytokine production IL17, IL22, IFNg, IL12 upon stimulation with TLR ligands)
    • Ghent University Hospital - UZGent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Protein expression
    • Technical procedure(s) : Immunohistochemistry
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT