Skip to
  1. Homepage
  2. Diagnostic tests
  3. Search
Simple search

Simple search

*
(*) mandatory field




 

Other search option(s)

29 matching term(s)

Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • 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 bile acid synthesis defect type 3, 4 (AMACR, CYP7B1 genes)
    • Praxis für Humangenetik Freiburg
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Biochemical diagnosis of Peroxisomal Disorders (Analyte: Pristanic Acid, Phytanic Acid, Pipecolic Acid and Very Long Chain Fatty Acids)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Biochemical diagnosis of Peroxisomal disorders (Analytes: plasmalogens, pristanic acid, phytanate and VLCFA)
    • St Mary's Hospital
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain Fatty Acids)
    • Royal Victoria Infirmary
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of alpha-Methylacyl-CoA Racemase Deficiency (AMACR gene)
    • AMC - Academisch Medisch Centrum
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of bile acid synthesis defect type 4 (AMACR gene: sequencing)
    • CeGaT GmbH
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Alpha-methyl-acyl-CoA Racemase Deficiency (Alpha-methyl-acyl-CoA Racemase activity)
    • AMC - Academisch Medisch Centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Bile Acid Synthesis Disorders (Analyte: Bile Acids)
    • AMC - Academisch Medisch Centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Peroxisomal Disorders (Analyte: Bile Acids, PUFA, Phytanic, Pristanic and Pipecolic Acid, Plasmalogens and Very Long-Chain Fatty Acids)
    • AMC - Academisch Medisch Centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Sterol Metabolism Disorder (Analyte: Sterols)
    • AMC - Academisch Medisch Centrum
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical diagnosis of congenital bile acid synthesis defect type 4
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Molecular diagnosis of familial intrahepatic cholestasis (ABCB4, ABCB11, and ATP8B1 genes)
    • Medizinische Universität Graz
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Diagnosis of peroxisomal metabolism disorders : very long chain fatty acid analysis (GC/MS)
    • Tartu University Hospital
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical diagnosis of peroxisomal diseases (very long chain fatty acids assay in plasma; phytanic and pristanic acids assays)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • More information
    • CANADA
    • Québec
    • SHERBROOKE
    • Biochemical diagnosis of Sterol metabolism disorder (Analyte: Sterols by GC/MS)
    • CHU Sherbrooke - Hôpital Fleurimont
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Biochemical diagnosis of peroxisomal diseases (metabolite analysis)
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of AMACR deficiency: enzyme activity assay (blood, cultured fibroblasts and amniocytes), a metabolite identification and a quantification (blood, amniotic fluid, cultured fibroblasts and amniocytes).
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Biochemical diagnosis of peroxisomal diseases
    • Allgemeines Krankenhaus
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Peroxysomal diseases testing
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Biochemical diagnosis of peroxisoma diseases (long chain fatty acids)
    • Hospital Universitario Cruces - Osakidetza
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of peroxisomal disorders (very long chain fatty acids, phytanic acid, pipecolic acid in plasma, erythrocyte plasmalogen levels, bile acids in urine)
    • Universitätsklinikum Heidelberg
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Biochemical diagnosis of peroxisomal disorders (metabolite profile)
    • Universitätsmedizin Göttingen
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain Fatty Acids)
    • Great Ormond Street Hospital for Children, NHS Foundation Trust
    • 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
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Biochemical and molecular diagnosis of peroxisomal diseases (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11, PEX12, PEX13, PEX14, PEX16, PEX19 and PEX26 genes)
    • Medizinische Universität Graz
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Biochemical diagnosis of peroxisomal disorders (analyte: very long chain fatty acid, pipecolic acid, phytanic acid, plasmalogens)
    • University Hospital Bratislava - Stare mesto
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Biochemicka diagnostika peroxizomovych ochoreni (analyt: mastne kyseliny s velmi dlhym retazcom, kyseliny pristanovej, fytanovej, pipekolovej a plazmalogenov)
    • University Hospital Bratislava - Stare mesto
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Molecular diagnosis of peroxisome biogenesis disorders - analysis of common mutations (PEX1 - c.2528GA and c.2097ins7 - exons 13 and 15, hotspot in exon 18; PEX2 - hotspot in exon 4; PEX6 - hotspot in exon 1; PEX10 - hotspot in exons 3, 4, 5; PEX12 - hotpost in exons 2, 3; PEX26 - hotspots in exons 1, 2; in case of no finding, sequencing analysis of 24 exons of PEX1 gene)
    • University Hospital Bratislava - Stare mesto
    • More information