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4 Result(s)

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

Caption : 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 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
    • Accreditation
    • 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