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37 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA gene: sequencing)
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Adenosine Deaminase Deficiency (ADA gene)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA gene)
    • 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
    • Accreditation
    • Molecular diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA gene / 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
    • Antenatal and postnatal molecular diagnosis of severe combined immunodeficiency (sequence analysis of the entire coding region and selected exons, mutation scanning of selected exons and the entire coding region of ADA, AK2, CD3D, CD3E, CORO1A, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, RAG2 genes)
    • Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Accreditation
    • Biochemical diagnosis of Adenosine Deaminase deficiency (Analyte: Adenosine deaminase -ADA)
    • St Thomas' Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • 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
    • Biochemical diagnosis of Adenosine Deaminase Deficiency (Adenosine Deaminase activity)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency (ADA gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • 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
    • Biochemical diagnosis of adenosine deaminase deficiency
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Molecular diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA 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 severe combined immunodeficiency due to adenosine deaminase deficiency (ADA gene)
    • Hospital Universitario Puerta del Mar
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • CÁDIZ
    • Prenatal and postnatal molecular genetic diagnosis of adenosine deaminase deficiency (ADA gene: sequencing of entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of adenosine deaminase deficiency (purines and pyrimidines in urine, adenosine deaminase activity in erythrocytes)
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Diagnosis of inflammatory bowel disease (Panel)
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • 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
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Biochemical diagnosis of ADA-SCID
    • Università degli Studi di Siena - Presidio San Miniato
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Biochemical diagnosis of adenosine deaminase deficiency
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Immunological, biochemical and molecular diagnosis of ADA-SCID (ADA gene)
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency by immunophenotyping and flow cytometry
    • "Aghia Sophia" Children's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Immunology
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • 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 due to adenosine deaminase deficiency
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (Analyte: Adenosine deaminase)
    • Faculty hospital F.D. Roosevelt
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SLOVAKIA
    • Banskobystricky kraj
    • BANSKA BYSTRICA
    • Molecular and biochemical diagnosis of severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADA)
    • Università degli Studi di Catania
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • SICILIA
    • CATANIA
    • Molecular diagnosis of Adenosine deaminase deficiency (ADA, sequencing analysis, PGD)
    • Wolfson Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (Analyte: Adenosine deaminase)
    • Rigshospitalet
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • DENMARK
    • Hovedstaden
    • COPENHAGEN
    • Biochemical diagnosis of adenosine deaminase deficiency (purines and pyrimidines in urine)
    • Dietmar-Hopp-Stoffwechselzentrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • 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 severe combined immunodeficiency due to adenosine deaminase deficiency deficiency (ADA gene: entire coding sequence)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • 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 due to adenosine deaminase deficiency (ADA gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • 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