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19 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(17)
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(3)
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Purpose(s)
(19)
(9)
Quality management
(3)
(10)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Molecular diagnosis of autism (MLPA 16p11and 22q13)
    • 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 predisposition to autism (NLGN3, NLGN4X, NRXN1 genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of predisposition to autism (NLGN3, NLGN4X genes: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Search for mutation in NLGN4X and NLGN3 genes in case of intellectual disability with autism
    • CHRU de Tours - Hôpital Bretonneau
    • Purpose(s) : 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 genetic diagnosis of autism (Array-CGH)
    • Università degli Studi di Pavia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • ITALY
    • LOMBARDIA
    • PAVIA
    • Cytogenetic diagnosis of constitutional chromosomal abnormalities (microdeletion/ microduplication syndromes by FISH, MLPA, array CGH: MLPA kits P245, P297, P036)
    • Instytut Matki i Dziecka
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
    • Technical procedure(s) : MLPA based techniques, Array based techniques, FISH, Karyotyping
    • More information
    • POLAND
    • Warszawa
    • WARSZAWA
    • Molecular diagnosis of of micro rearrangement related to autism (by array)
    • CHU Paris Centre - Maternité Port Royal
    • 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 intellectual deficiency related to PTCHD1 gene
    • CHRU de Tours - Hôpital Bretonneau
    • Purpose(s) : 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 susceptibility to autism (NLGN4X gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of susceptibility to autism (CNTNAP2 gene - NGS)
    • CHU Paris Centre - Hôpital Cochin
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of susceptibility to autism (SHANK3 gene; NGS)
    • CHU de Strasbourg - Hôpital Civil
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ALSACE
    • STRASBOURG
    • Molecular diagnosis of susceptibility to X-linked autism (MECP2 gene)
    • BURC Genetics Diagnostic Center
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Molecular diagnosis of autism and X-linked mental retardation (RAB39B, SHANK3, NLGN3, NLGN4X, SHANK2 genes)
    • CHU de Nîmes - Hôpital Caremeau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, MLPA based techniques
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • NÎMES
    • Molecular diagnosis of predisposition to autism (NLGN3 and NLGN4X genes)
    • "Aghia Sophia" Children's Hospital
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Molecular cytogenetic diagnosis of susceptibility to autism (NLGN4X, NLGN3, MECP2 genes)
    • Azienda Ospedaliera Universitaria di Perugia Santa Maria della Misericordia
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • UMBRIA
    • PERUGIA
    • Molecular diagnosis of autism (entire coding sequence of SHANK3 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
    • Diagnosis of autism and intellectual deficiency (CGH arrays)
    • CHR d'Orléans - Hôpital de la Source
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • FRANCE
    • CENTRE
    • ORLEANS
    • Molecular diagnosis of Autism
    • Children's University Hospital Zagreb
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CROATIA
    • CROATIA
    • ZAGREB
    • Molecular diagnosis of susceptibility to autism (NLGN4X gene)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE