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7 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(5)
(1)
(4)
Technique(s)
(2)
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(7)
(1)
Quality management
(4)
(5)
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(3)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • 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 complex cortical dysplasia with other brain malformations-2, 3 and 4 (KIF2A, KIF5C, TUBG1 genes)
    • Praxis für Humangenetik Freiburg
    • 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
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Isolated focal cortical dysplasia type IIb (TSC1 gene: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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
    • Molecular diagnosis of complex cortical dysplasia with other brain malformations (TUBB3 gene)
    • Institut für Humangenetik am Universitätsklinikum Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of isolated focal cortical dysplasia, Taylor type (TSC1 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 susceptibility to isolated focal cortical dysplasia type IIb (TSC1 gene / complete sequencing)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis, Risk assessment
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA