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21 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Search of genomic DNA duplications and/or deletions by array-CGH
    • Centre Hospitalier Universitaire Vaudois CHUV
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Accreditation
    • Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Accreditation
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene: sequencing, MLPA)
    • Universitätsklinikum Ulm
    • 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
    • Molecular diagnosis of Börjeson-Forssman-Lehmann Syndrome (PHF6 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Bardet-Biedl syndrome (NGS panel: ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, GNAS, LZTFL1, MKS1, MKKS, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP; APEX panel: ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, GNAS, MKKS, MKS1, PHF6, TRIM32, TTC8; Sanger sequencing: BBS1, BBS2, BBS10)
    • Asper Biotech Ltd.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Intellectual Deficit with Multiple Congenital Anomalies (SNP-array)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of X-linked Intellectual Deficit due to X-chromosome Inactivation (RFLP and methylation analysis of x-chromosome)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Methylation analysis
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene: sequencing)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 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 Borjeson-Forssman-Lehmann syndrome (PHF6 gene)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of intellectual deficiency and congenital malformation (cryptic subtelomeric and intercalated anomalies by array CGH)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene)
    • CHU de Saint-Etienne - Hôpital Nord
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • RHONE-ALPES
    • SAINT-PRIEST-EN-JAREZ
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene)
    • CHRU de Tours - Hôpital Bretonneau
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • CENTRE
    • TOURS
    • Molecular diagnosis of dysmorphological syndromes by CGH array
    • CHRU de Brest - Hôpital Morvan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • FRANCE
    • BRETAGNE
    • BREST
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene)
    • Institut für Humangenetik am Universitätsklinikum Köln
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene)
    • Gemeinschaftspraxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Personalised preimplantation genetic diagnosis: microsatellite analysis on the first polar globule
    • Policlinico Universitario di Padova
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (entire coding sequence of PHF6 gene)
    • 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