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7 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis in case of Unexplained Movement Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of bilateral striopallidodentate calcinosis (SLC20A2, PDGFRB, PDGFB genes)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of Idiopathic Basal Ganglia Calcification type 1 (SLC20A2 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of bilateral striopallidodentate calcinosis (XPR1 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
    • Molecular diagnosis of bilateral striopallidodentate calcinosis (PDGFB, PDGFRB, SLC20A2, XPR1 genes)
    • Gemeinschaftspraxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of bilateral striopallidodentate calcinosis (PDGFB gene)
    • Faculté de médecine et de pharmacie de Rouen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • HAUTE-NORMANDIE
    • ROUEN
    • Diagnosis of bilateral striopallidodentate calcinosis (SLC20A2, PDGFB, PDGFRB genes)
    • 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