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48 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Molecular diagnosis of anhydrotic ectodermal dysplasias (EDA, EDAR and EDARADD genes)
    • CHU de Toulouse - Hôpital Purpan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Accreditation
    • Molecular diagnosis (MLPA) of X-linked anhidrotic ectodermal dysplasia (EDA gene)
    • Hôpitaux Universitaires de Genève HUG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Molecular diagnosis of ectodermal dysplasia: hypohidrotic X-linked, anhidrotic autosomal dominant and autosomal recessive types (EDA, EDAR and EDARADD genes: Molecular diagnosis through sequencing and dosage analysis)
    • University Hospital of Wales
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • South Glamorgan
    • CARDIFF
    • Accreditation
    • Molecular diagnosis of Christ-Siemens-Touraine syndrome (EDA gene)
    • Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Accreditation
    • Molecular diagnosis of Hypohidrotic Ectodermal Dysplasia (EDA, EDAR, EDARADD and WNT10A gene)
    • UMCG - Universitair Medisch Centrum Groningen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Groningen
    • GRONINGEN
    • Accreditation
    • Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR genes: sequencing, NGS panel ectodermal dysplasia, MLPA)
    • Universitätsklinikum Regensburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Accreditation
    • Molecular analysis of the IKBKG gene in immunodeficiency syndromes (test under development)
    • University Hospital of Wales
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • South Glamorgan
    • CARDIFF
    • Accreditation
    • Molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia (EDA gene; mutations and MLPA)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of an-/hypohidrotic ectodermal dysplasia (EDAR, EDARADD, ED1 genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Hypohidrotic Ectodermal Dysplasia with Immunodeficiency (IKBKG gene)
    • UMCG - Universitair Medisch Centrum Groningen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Groningen
    • GRONINGEN
    • Accreditation
    • Molecular diagnosis of Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency (IKBKG gene)
    • University Hospital of Wales
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • South Glamorgan
    • CARDIFF
    • Accreditation
    • Molecular diagnosis of autosomal dominant and recessive hypohidrotic ectodermal dysplasia (EDAR, EDARADD genes)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia (EDA gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of hypo/anhidrotic ectodermal dysplasia with immunodeficiency (IKBKG, NFKBI genes)
    • DRK Baden-Württemberg/ Hessen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Accreditation
    • Molecular diagnosis of Anhidrotic Ectodermal Dysplasia with Immunodeficiency (NEMO gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of ectodermal dysplasia (EDA, NFKBIA, GJB6, EDAR, and EDARADD genes)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Diagnosis of Christ-Siemens-Touraine syndrome
    • Aarhus Universitetshospital - Skejby
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • DENMARK
    • Jylland
    • AARHUS
    • Molecular diagnosis of X-linked anhidrotic ectodermal dysplasia (EDA gene)
    • University of Szeged - Paediatric Department
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • HUNGARY
    • Dél-Alföld
    • SZEGED
    • Molecular diagnosis of anhidrotic ectodermal dysplasia (ED1, EDAR, EDARADD, WNT10A genes)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Molecular diagnosis of an-/hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
    • Institut für Humangenetik des Universitätsklinikums Münster
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • Molecular diagnosis of hypo/anhidrotic ectodermal dysplasia with immunodeficiency (IKBKG gene: sequencing, MLPA)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR genes)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR and EDARADD genes)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia (EDA gene / complete sequencing, MLPA)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of autosomal dominant and recessive hypohidrotic ectodermal dysplasia (EDAR, EDARADD, WNT10A 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
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia (ED1 gene)
    • Medizinische Universität Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia (EDA gene / sequencing, real-time PCR)
    • GenoClinics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : PCR based techniques
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of autosomal dominant and recessive hypohidrotic ectodermal dysplasia (EDAR, EDARADD genes / sequencing)
    • GenoClinics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA and EDARADD genes)
    • Klinikum Stuttgart - Standort Olgahospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • Molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia (EDA gene / 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 autosomal dominant or recessive hypohidrotic ectodermal dysplasia (EDAR gene / 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 X-linked hypohidrotic ectodermal dysplasia (EDA gene / sequencing)
    • Universidad de Salamanca. Facultad de Medicina
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Castilla - León
    • SALAMANCA
    • Molecular diagnosis of Hypohidrotic ectodermal dysplasia with immunodeficiency (NFKBIA: 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 Christ-Siemens-Touraine syndrome
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Diagnosis of hypohidrotic ectodermal dysplasia
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Postnatal molecular diagnosis of incontinentia pigmenti (mutation scanning of selected exons, sequence analysis of the entire coding region and whole exome sequencing of IKBKG gene)
    • Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
    • Purpose(s) : 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) : NGS sequencing (except WES)
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Molecular diagnosis of of autosomal dominant, autosomal recessive and X-linked forms of ectodermal dysplasia (EDA, EDAR, and EDARADD genes)
    • Associazione Cante di Montevecchio
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • MARCHE
    • FANO
    • Molecular diagnosis of Ectodermal Dysplasia X linked (EDA1, Linkage analysis, PGD)
    • Shaare Zedek Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
    • Kinder- und Jugendklinik des Universitätsklinikums Erlangen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • ERLANGEN
    • Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDAR and EDARADD genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of hypohidrotic ectodermal dysplasia with immunodeficiency (IKBKG gene)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of Christ-Siemens-Touraine syndrome (EDA gene)
    • Innovagenomics, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Castilla - León
    • SALAMANCA
    • Electron microscopic diagnosis of Christ-Siemens-Touraine syndrome
    • Universitäts-Hautklinik Heidelberg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Molecular diagnosis of IKBKG defects (IKBKG gene)
    • Azienda Ospedaliera Spedali Civili di Brescia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • BRESCIA
    • Molecular diagnosis of hypohidrotic ectodermal dysplasia with immunodeficiency (NFKBIA gene)
    • Policlinico S. Orsola-Malpighi - Area S. Orsola
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • BOLOGNA
    • Preimplantation genetic diagnosis of Christ-Siemens-Touraine syndrome (EDA gene)
    • Igenomix Spain
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of hypo/anhidrotic ectodermal dysplasia with immunodeficiency (IKBKG gene)
    • Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM