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Caption : Accreditation =Accreditation
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    • GERMANY
    • Berlin
    • BERLIN
    • Accreditation
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis type 1 (DLL3 gene)
    • Charité - Universitätsmedizin Berlin (CVK)
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis type 1 (DLL3 gene: sequencing)
    • Pränatalmedizin München
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis type 2 (MESP2 gene: sequencing)
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • More information
    • UNITED KINGDOM
    • Devon
    • EXETER
    • Accreditation
    • Molecular diagnosis of autosomal recessive Spondylocostal Dysostosis (SCD1)
    • Royal Devon and Exeter Hospital - Wonford
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis type 2 (MESP2 gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Biochemical diagnosis of Congenital Disorders of Glycosylation (Analysis of Transferrin and ApoCIII iso-electric focussing in plasma)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Biochemical diagnosis of CDG syndrome
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Biochemical diagnosis of Carbohydrate-deficient Glycoprotein disorders (Analyte: Transferrin isoelectric focussing)
    • Birmingham Children's Hospital
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of CDG syndrome type Ia-o and IIa-j (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, B4GALT1, COG1, COG4, COG5, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2 , MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1 genes: sequencing)
    • CeGaT GmbH
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of CDG Syndrome (Analyte: Sialotransferrins)
    • AMC - Academisch Medisch Centrum
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of CDG syndrome
    • CHU de Lyon-GH Est - Hospices Civils de Lyon
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Biochemical diagnosis of CDG syndrome
    • CHRU de Lille - Centre de biologie pathologie génétique
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • 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
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Biochemical diagnosis of CDG syndrome
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Molecular diagnosis of spondylocostal dysostosis, autosomal recessive, type 1 (DLL3 gene): complete sequencing
    • Centre Hospitalier Universitaire Vaudois CHUV
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Molecular diagnosis of spondylocostal dysostosis, autosomal recessive, type 2 (MESP2 gene): complete sequencing
    • Centre Hospitalier Universitaire Vaudois CHUV
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Molecular diagnosis of spondylocostal dysostosis, autosomal recessive, type 3 (LFNG gene): complete sequencing
    • Centre Hospitalier Universitaire Vaudois CHUV
    • More information
    • BELGIUM
    • LIEGE
    • LIEGE
    • Biochemical diagnosis of Carbohydrate Deficient Sialotransferrin (sialotransferrine profile by HPLC: serum)
    • CHU Sart Tilman - Liège
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis (DLL3, HES7, LFNG, MESP2 genes / sequencing)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • FRANCE
    • BOURGOGNE
    • DIJON
    • Molecular diagnosis of spondylocostal dysostosis (DLL3, MESP2, LFNG and HES7 gene sequencing ; search for genomic rearrangement)
    • CHU de Dijon - Plateau technique de Biologie
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis. DLL3 gene.
    • Genetaq
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis (DLL3, HES7, LFNG and MESP2 genes)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • 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
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • 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
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of CDG syndrome
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of CDG syndrome
    • Hospital Clínic de Barcelona
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of CDG syndromes (CDG Ia to Io; IIa, IIb to IIo)
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • GREECE
    • ATTIKI
    • ATHENS
    • Biochemical diagnosis of CDG syndrome (transferrin isoelectric focusing)
    • Institute of Child Health
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • 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
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Molecular diagnosis of unsolved Congenital Disorders of Glycosylation (Whole exome sequencing with glycosylation filter)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Congenital Disorder of Glycosylation, type Ia (Analyte: Phosphomannomutase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Congenital Disorder of Glycosylation, type Ib (Analyte: Phosphomannose Isomerase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • 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))
    • Universitätsklinikum Heidelberg
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Biochemical diagnosis of Carbohydrate-deficient glycoprotein (CDG) syndromes (transferrin isoelectric focusing)
    • Cliniques Universitaires UCL de Saint Luc - UCLStLuc
    • 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
    • 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
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Biochemical diagnosis of congenital disorders of glycosylation (serum, plasma, isoelectric focusing of transferrins)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of CDG syndrome
    • Hospital Universitari Sant Joan de Déu
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis (DLL3, MESP2, LFNG and HES7 genes)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Medizinische Universität Wien
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of autosomal recessive spondylocostal dysostosis (DLL3 gene / sequencing)
    • GenoClinics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Congenital Disorders of Glycosylation (transferrin isoelectric focusing)
    • National Hospital for Neurology and Neurosurgery
    • More information