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26 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
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    • Accreditation
    • Molecular diagnosis of FG syndrome / Lujan-Fryns syndrome (MED12 gene (exon 21,22) and UPF3B gene)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of FG syndrome (MED12 gene)
    • Paxis und Labor Dr. med Karl Mehnert
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • NEU-ULM
    • Accreditation
    • Molecular diagnosis of FG syndrome (mutation analysis of exon 21 of MED12 gene)
    • Addenbrooke's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Accreditation
    • Molecular diagnosis of Opitz-Kaveggia Syndrome (MED12 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of FLNA gene associated filaminopathies (sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of recurrent mutation of the MED12 gene
    • Hôpitaux Universitaires de Genève HUG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Molecular diagnosis of FLNA gene associated filaminopathies (sequencing)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Opitz-Kaveggia Syndrome (MED12 gene)
    • UMCG - Universitair Medisch Centrum Groningen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Groningen
    • GRONINGEN
    • Accreditation
    • Molecular diagnosis of X-linked Syndromic Intellectual Deficit type 14 (UPF3B gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of FLNA gene associated filaminopathies
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of FG syndrome (MED12 gene hotspots; exome sequencing)
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Accreditation
    • Molecular diagnosis of FLNA gene associated filaminopathies
    • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MARTINSRIED
    • Accreditation
    • Molecular diagnosis of FG syndrome (CASK, MED12, UPF3B genes)
    • Zentrum für Humangenetik Mannheim
    • 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
    • MANNHEIM
    • Molecular diagnosis of FG syndrome (MED12, UPF3B genes)
    • Universitätsklinikum Carl Gustav Carus an der TU Dresden
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of FG syndrome (MED12 and UPF3B genes: total sequencing)
    • CHRU de Tours - Hôpital Bretonneau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • CENTRE
    • TOURS
    • Molecular diagnosis of FG syndrome (MED12 gene)
    • Institut für Klinische Genetik Bonn
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Molecular diagnosis of FG syndrome type 1 (MED12 gene): analysis of 7 exons
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of FG syndrome (MED12 gene)
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of FG syndrome (MED12 gene)
    • CHU d'Angers
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Molecular diagnosis of FG syndrome (FLNA, MED12 genes)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Opitz-Kaveggia syndrome (MED12 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 FG syndrome (MED12 gene / entire coding sequence)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of FG syndrome (CASK gene: deletion/duplication analysis by MLPA)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of FG syndrome (CASK gene)
    • Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Molecular diagnosis of FG syndrome (MED12 gene)
    • Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Molecular diagnosis of Opitz-Kaveggia and Lujan-Frins syndromes (MED12 gene)
    • Policlinico S. Orsola-Malpighi - Area S. Orsola
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • BOLOGNA