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15 Result(s)

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Purpose(s)
(15)
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(15)
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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 Meier-Gorlin Syndrome type 1-5 (ORC1, ORC4, ORC6, CDT1 and CDC6 gene)
    • 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 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 Meier-Gorlin syndrome (ORC1 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
    • Molecular diagnosis of ear-patella-short stature syndrome (ORC6 gene)
    • CeGaT GmbH
    • 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
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of Meier-Gorlin syndrome (ORC4 gene)
    • CeGaT GmbH
    • 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
    • TÜBINGEN
    • Accreditation
    • Diagnosis of limb malformations (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
    • 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) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : Array based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of dysmorphological syndromes by CGH array
    • CHRU de Brest - Hôpital Morvan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : Array based techniques
    • More information
    • FRANCE
    • BRETAGNE
    • BREST
    • Molecular diagnosis of ear-patella-short stature syndrome (ORC1 gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Meier-Gorlin syndrome (ORC1 gene: sequencing of 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 ear-patella-short stature syndrome (ORC1 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
    • Diagnosis of syndromes with microcephaly (Panel)
    • CHU Paris - Hôpital Robert Debré
    • 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