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14 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(14)
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(9)
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Technique(s)
(2)
(10)
(2)
Purpose(s)
(1)
(14)
(1)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Double Cortex Syndrome (DCX gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of Neuronal Migration Disorder (multigene panel; 87 genes)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of lissencephaly (DCX, PAFAH1B1, TUBA1A genes: sequencing, MLPA)
    • Pränatalmedizin München
    • 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
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Diagnosis of intellectual disability (Panel)
    • CHU de Marseille - Hôpital de la Timone
    • 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
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Accreditation
    • Molecular Diagnosis of Disorders of Cerebral Malformation (ARX, DCX, GPR56, NDE1, PAFAH1B1, TUBA1A, TUBA8, TUBB2B gene panel: Sequencing of the entire coding region of gene (s) plus copy number analysis / targeted mutation analysis: ARX gene exon 2
    • St James's University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • UNITED KINGDOM
    • West Yorkshire
    • LEEDS
    • Diagnosis of periventricular nodular heterotopia (Panel)
    • CHU de Bordeaux-GH Pellegrin
    • 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
    • AQUITAINE
    • BORDEAUX
    • Diagnosis of intellectual disability (Panel)
    • CHU de Strasbourg - Hôpital Civil
    • 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
    • ALSACE
    • STRASBOURG
    • Diagnosis of cerebral malformations (Panel)
    • CHU de Strasbourg - Hôpital Civil
    • 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
    • ALSACE
    • STRASBOURG
    • Diagnosis of intellectual disability (Panel)
    • CHU de Lyon HCL - GH Est
    • 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
    • RHONE-ALPES
    • BRON
    • Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • 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
    • Diagnosis of intellectual disability (Panel ID275)
    • CHU de Poitiers
    • 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
    • POITOU-CHARENTES
    • POITIERS
    • Postnatal molecular diagnosis of lissencephaly type 1 due to doublecortin gene mutation (sequence analysis of the entire coding region and MLPA of DCX gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : MLPA based techniques
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Diagnosis of intellectual disability (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
    • Diagnosis of subcortical band heterotopia (DCX gene)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES