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10 Result(s)

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Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic 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
    • Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Chylomicron retention disease (SAR1B gene)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Chylomicron retention disease (SAR1B gene)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of chylomicron retention disease (SAR1B gene)
    • Hospital de la Santa Creu i Sant Pau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of Anderson disease (SAR1B gene: exons and exon-intron junctions sequencing)
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of dyslipidemias related to fat acids deficiencies and cardiovascular disease
    • Hospital Universitario Cruces - Osakidetza
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Molecular diagnosis of chylomicron retention disease (SAR1B gene / entire coding sequence)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Biochemical diagnosis of Hypobetalipoproteinemia.
    • Hospital Universitari Sant Joan de Déu
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Allgemeines Krankenhaus der Stadt Wien
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • WIEN
    • WIEN