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18 Result(s)

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Purpose(s)
(18)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Biochemical and molecular diagnosis of cholestasis, progressive familial intrahepatic PFIC1 (ATP8B1 gene), PFIC2 (ABCB11 gene) and PFIC3 (ABCB4 gene)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Molecular diagnosis of Familial Intrahepatic Cholestasis type 1, 2 and 3 (ATP8B1, ABCB11 and ABCB4 gene)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
    • Bioscientia Institut für Medizinische Diagnostik 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
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes: sequencing, NGS panel cholestasis, linkage analysis)
    • Universitätsklinikum Regensburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Accreditation
    • Molecular diagnosis of familial intrahepatic cholestasis (ABCB4, ABCB11, and ATP8B1 genes)
    • Medizinische Universität Graz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Accreditation
    • Molecular diagnosis of intrahepatic cholestasis (ABCB4, ABCB11, ATP8B1 genes)
    • 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 hereditary North American Indian childhood cirrhosis (CIRH1A gene)
    • 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
    • Diagnosis of metabolic liver diseases (Panel)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • 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
    • LE KREMLIN-BICÊTRE
    • Biochemical diagnosis of progressive familial intrahepatic cholestasis
    • Groupe Hospitalier Paris Saint-Joseph
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of pregnancy and progressive familial intrahepatic cholestasis (ABCB4, ATP8B1 and ABCB11 genes: sequencing of exons and flanking intronic sequences)
    • CHU Paris Est - Hôpital Saint-Antoine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of familial intrahepatic cholestasis (ABCB4, ABCB11 and ATP8B1 genes; NGS)
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • 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
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Molecular diagnosis of progressive familial intrahepatic cholestasis (ABCB4, ATP8B1 and ABCB11 genes): sequencing of the entire coding region.
    • Faculdade de Medicina da Universidade de Lisboa
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • SUL
    • LISBOA
    • Molecular diagnosis of progressive familial intrahepatic cholestasis (ABCB11, ABCB4 and ATP8B1 genes / entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Hereditary North American Indian childhood cirrhosis (R565W mutation in CIRH1A gene by PCR & enzyme restriction)
    • Centre hospitalier universitaire Sainte-Justine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : PCR based techniques
    • More information
    • CANADA
    • Québec
    • MONTRÉAL
    • Molecular diagnosis of familial intrahepatic cholestasis (ABCB4, ATP8B1 and ABCB11 genes: sequencing of the entire coding region for all genes and deletion/duplication analysis by MLPA for ABCB4 gene)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Diagnosis of inherited disorders of cholestasis (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
    • Biochemical diagnosis of intrahepatic cholestasis (bile acids in urine)
    • Dietmar-Hopp-Stoffwechselzentrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG