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43 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of autosomal recessive Spondylocostal Dysostosis types 1 and 2 by sequencing of the entire coding region of gene (s) (DLL3, MESP2 gene)
    • Royal Devon and Exeter Hospital - Wonford site
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Devon
    • EXETER
    • Accreditation
    • Biochemical diagnosis of Congenital Disorders of Glycosylation (Analysis of Transferrin and ApoCIII iso-electric focussing in plasma)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • 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
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis type 2 (MESP2 gene: sequencing)
    • 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
    • Biochemical diagnosis of Carbohydrate Deficient Sialotransferrin (sialotransferrine profile by HPLC: serum)
    • CHU Sart Tilman - Liège
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • LIEGE
    • LIEGE
    • Accreditation
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis type 1 (DLL3 gene: sequencing)
    • 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 autosomal recessive spondylocostal dysostosis type 1-4 (DLL3, HES7, LFNG, MESP2 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
    • 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) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis (DLL3 gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of Spondylocostal Dysostosis type 1 and 4 (DLL3 and HES7 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Biochemical diagnosis of CDG syndrome
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Biochemical diagnosis of Carbohydrate-deficient Glycoprotein disorders (Analyte: Transferrin isoelectric focussing)
    • Birmingham Children's Hospital NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Biochemical diagnosis of CDG Syndrome (Analyte: Sialotransferrins)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Congenital Disorders of Glycosylation (Analysis of Transferrin N-glycosylation and ApoCIII O-glycosylation by iso-electric focusing in plasma and CDG-II subtype identification by mass spectrometry of transferrin)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of unsolved Congenital Disorders of Glycosylation (Whole exome sequencing with glycosylation filter)
    • 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
    • Biochemical diagnosis of CDG syndrome
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of CDG syndrome
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Biochemical and molecular diagnosis of CDG syndromes (ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, COG1, COG4, COG5, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1 genes)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis. DLL3 gene.
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Biochemical diagnosis of CDG syndrome
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Molecular diagnosis of spondylocostal dysostosis (DLL3, MESP2, LFNG and HES7 gene sequencing ; search for genomic rearrangement)
    • CHU de Dijon - Plateau technique de Biologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • BOURGOGNE
    • DIJON
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis (DLL3, HES7, LFNG and MESP2 genes)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis (DLL3, HES7, LFNG, MESP2 genes / sequencing)
    • Centro Inmunológico de Alicante (CIALAB)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of Autosomal recessive spondylocostal dysostosis (DLL3 gene: sequencing of the 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 spondylocostal dysostosis, autosomal recessive, type 1,2, 3,4 (DLL3, MESP2, LFNG, HES7 genes); complete sequencing
    • Centre Hospitalier Universitaire Vaudois CHUV
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Diagnosis of autosomal recessive spondylocostal dysostosis (DLL3, HES7, LFNG, MESP2 genes)
    • Bioarray
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Biochemical diagnosis of CDG syndrome
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of CDG syndromes (CDG Ia to Io; IIa, IIb to IIo)
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of CDG syndrome (transferrin isoelectric focusing)
    • Institute of Child Health
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Biochemical diagnosis of CDG syndrome
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical and molecular diagnosis of CDG (Isoelectric focusing, enzyme activity, thin layer chromatography, HPLC / genes: ALG1-3, ALG6, ALG8, ALG9, ALG12, DPAGT1, DPM1, MPDU1, MPI, PMM2)
    • Dietmar-Hopp-Stoffwechselzentrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Immunology
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of Carbohydrate-deficient glycoprotein (CDG) syndromes (transferrin isoelectric focusing)
    • Cliniques Universitaires UCL de Saint Luc - UCLStLuc
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Biochemical diagnosis of Carbohydrate-deficient glycoprotein (CDG) syndromes (total sialic acid)
    • Cliniques Universitaires UCL de Saint Luc - UCLStLuc
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Biochemical diagnosis of Carbohydrate-deficient glycoprotein (CDG) syndromes (unesterified sialic acid)
    • Cliniques Universitaires UCL de Saint Luc - UCLStLuc
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Biochemical diagnosis of Congenital Disorder of Glycosylation, type Ia (Analyte: Phosphomannomutase)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Congenital Disorder of Glycosylation, type Ib (Analyte: Phosphomannose Isomerase)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of CDG syndrome
    • 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 CDG syndromes (detection of major anomalies in the glycosylation of serum glycoproteins; PMM, PMI enzyme assays)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Diagnosis of autosomal recessive spondylocostal dysostosis (DLL3, MESP2, LFNG, HES7 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
    • Biochemical diagnosis of congenital disorders of glycosylation (serum, plasma, isoelectric focusing of transferrins)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Biochemical diagnosis of CDG syndromes associated with an o-glycosylation anomaly, mucine-type core1 (apolipoprotein C3 glycosylation study)
    • CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • 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
    • Biochemical diagnosis of Congenital Disorders of Glycosylation (transferrin isoelectric focusing)
    • National Hospital for Neurology and Neurosurgery
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON