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13 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(8)
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(4)
Technique(s)
(1)
(3)
(1)
Purpose(s)
(13)
Quality management
(3)
(4)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Diagnosis of mitochondrial diseases (Panel)
    • CHU de Nice - Hôpital l'Archet 2
    • 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
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Molecular diagnosis of severe combined immunodeficiency disease (SCID) T-, B- (ADA, AK2, DCLRE1C, RAG1, RAG2, PRKDC genes)
    • DRK Baden-Württemberg/ Hessen
    • 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
    • Accreditation
    • Diagnosis of Severe Combined Immunodeficiency (lymphocyte transformation assay: response to mitogens and antigens; TREC assay: CD45RO/CD45RA on T-cells)
    • Ghent University Hospital - UZGent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Molecular diagnosis of reticular dysgenesis (AK2 gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Diagnosis of reticular dysgenesis (AK2 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
    • Immunological diagnosis of primary T cell immunodeficiency (flow cytometry)
    • Medizinische Hochschule Hannover
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Biochemical diagnosis of Severe Combined Immunodeficiency (Analyte: Adenosine Deaminase)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of T-cell, B-cell and Severe Combined Immunodeficiency (Analyte: Adenosine Deaminase)
    • AZM - Academisch Ziekenhuis Maastricht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Molecular diagnosis of reticular dysgenesis (AK2 gene)
    • 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 severe combined immunodeficiency T- B- (RAG1 and RAG2 genes)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Molecular diagnosis of SCID (gene analysis for IL2RG, JAK3, IL7R, IL15RA, PTPRC, CD3D, CD3E, CD3G, CD247, CD8A, ZAP70, RAG1, RAG2, DCLRE1C, ADA, AK2, LIG4, NHEJ1, PNP, PRKDC, LCK using whole exome sequencing)
    • Ghent University Hospital - UZGent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Immunology
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Whole Exome Sequencing (WES)
    • 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