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20 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(18)
(2)
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Technique(s)
(7)
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Purpose(s)
(2)
(19)
Quality management
(5)
(14)
Country(ies)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Pulmonary Alveolar Proteinosis (Direct sequencing of coding exons 1-10 of SFTPB, 1-5 of SFTPC and 4-33 of ABCA3)
    • Great Ormond Street Hospital for Children, York House
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Pulmonary Surfactant Metabolism Dysfunction type 3 (ABCA3 gene)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of hereditary pulmonary alveolar proteinosis (CSF2RA gene)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Diagnosis of hereditary pulmonary alveolar proteinosis (CSF2RA gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of respiratory distress with surfactant metabolism deficiency (ABCA3, CSF2RA, SFTPB, SFTPC genes)
    • Institut für Laboratoriumsmedizin und Humangenetik
    • 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
    • SINGEN /HTWL.
    • Molecular diagnosis of deficiency of B and C pulmonary surfactant proteins (common mutations in SFTPB, SFTPC and ABCA3 genes)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • 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
    • Molecular diagnosis of congenital pulmonary alveolar proteinosis (SFTPB gene)
    • IRCCS Ospedale San Raffaele
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of pulmonary surfactant protein anomalies (ABCA3 gene)
    • Oslo University Hospital, Ullevaal
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NORWAY
    • Østlandet
    • OSLO
    • Molecular diagnosis of Acute Respiratory Distress Syndrome (SFTPB gene)
    • Oslo University Hospital, Ullevaal
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NORWAY
    • Østlandet
    • OSLO
    • Molecular diagnosis of congenital pulmonary alveolar proteinosis (CSF2RA 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, Whole Exome Sequencing (WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of interstitial lung disease to childhood due to pulmonary surfactant protein anomalies (SFTPB, SFTPC and ABCA3 genes / 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, Whole Exome Sequencing (WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of deficiency of B and C pulmonary surfactant proteins (common mutations in SFTPB, SFTPC and ABCA3 genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Congenital pulmonary alveolar proteinosis (ABCA3 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 primary interstitial lung disease (SFTPB, SFTPC, ABCA3, NKX2-1 genes)
    • CHU Henri Mondor
    • 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, Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Molecular diagnosis of pulmonary surfactant protein anomalies (SFTPB, SFTPC and ABCA3 genes : entire coding region)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Diagnosis of hereditary pulmonary alveolar proteinosis (CSF2RA gene)
    • 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
    • Molecular prenatal diagnosis of alveolar proteinosis (CSF2RA gene)
    • Azienda Ospedaliera Spedali Civili di Brescia
    • Purpose(s) : Antenatal 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
    • Immunochemical diagnosis of TLR signaling defect (cytokine production IL6, IL1beta, IL10 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
    • Diagnosis of hereditary immune deficiencies (Panel)
    • Université Paris 7 - Bâtiment Lamarck
    • 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