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- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- UKE - Universitätsklinikum Hamburg-Eppendorf
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- SWITZERLAND
- Suisse Alémanique
- ZÜRICH
- Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
- Genetica AG
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- GERMANY
- Rheinland-Pfalz
- INGELHEIM AM RHEIN
- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- Bioscientia Institut für Medizinische Diagnostik GmbH
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- Molecular diagnosis of Adrenoleukodystrophy (ABCD1 gene)
- CHU de LIEGE - UniLab Lg
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- UNITED KINGDOM
- Merseyside
- LIVERPOOL
- Molecular diagnosis of X-linked Adrenoleukodystrophy (ABCD1 gene)
- Liverpool Women's NHS Foundation Trust
- More information
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- UNITED KINGDOM
- South Yorkshire
- SHEFFIELD
- Molecular diagnosis of Adrenoleucodystrophy (sequencing of coding regions: ABCD1, PEX1, PEX10, PEX11B, PEX12 PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6 genes)
- Sheffield Children's NHS Foundation Trust
- More information
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- UNITED KINGDOM
- Wiltshire
- SALISBURY
- Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
- Salisbury District Hospital
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- GERMANY
- Baden-Württemberg
- MANNHEIM
- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- Zentrum für Humangenetik Mannheim
- More information
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- UNITED KINGDOM
- Greater London
- LONDON
- Molecular diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: Targetted mutation analysis / Testing for known mutations in family members)
- St George's University of London
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- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis of Adrenoleukodystrophy (ABCD1 gene)
- Radboudumc - Radboud universitair medisch centrum
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- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
- Radboudumc - Radboud universitair medisch centrum
- More information
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Molecular diagnosis of Metabolic Neurodegenerative Disorders (multigene panel; 60 genes)
- AMC - Academisch Medisch Centrum
- More information
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- GERMANY
- Baden-Württemberg
- FREIBURG
- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- Praxis für Humangenetik Freiburg
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- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- Centogene AG
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- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of peroxisomal disorders (PEX1-3, PEX5-7, PEX10-14, PEX16, PEX19, PEX26 genes)
- Centogene AG
- More information
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- NETHERLANDS
- Utrecht
- UTRECHT
- Biochemical diagnosis of Peroxisomal Disorders (Analyte: Pristanic Acid, Phytanic Acid, Pipecolic Acid and Very Long Chain Fatty Acids)
- UMC Utrecht - Universitair Medisch Centrum Utrecht
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- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- MVZ Fenner & Krasemann
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- UNITED KINGDOM
- West Yorkshire
- LEEDS
- Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
- St James's University Hospital
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- UNITED KINGDOM
- Greater Manchester
- MANCHESTER
- Biochemical diagnosis of Peroxisomal disorders (Analytes: plasmalogens, pristanic acid, phytanate and VLCFA)
- St Mary's Hospital
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- UNITED KINGDOM
- South Yorkshire
- SHEFFIELD
- Biochemical diagnosis of Peroxisomal biogenesis disorders & Peroxisomal single enzyme defects (Analyte: Fatty acids very-long-chain)
- The Sheffield Children's Hospital
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- UNITED KINGDOM
- South Yorkshire
- SHEFFIELD
- Biochemical diagnosis of Adult Refsum disease / Peroxisomal disorders (Analyte: Phytanic acid)
- The Sheffield Children's Hospital
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- UNITED KINGDOM
- South Yorkshire
- SHEFFIELD
- Biochemical diagnosis of Peroxisomal disorders (Analytes: Pristanic acid, plasmalogens, pipecolic acid & Very Long Chain Fatty acids)
- The Sheffield Children's Hospital
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- UNITED KINGDOM
- Tyne & Wear
- NEWCASTLE UPON TYNE
- Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain Fatty Acids)
- Royal Victoria Infirmary
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- UNITED KINGDOM
- Tyne & Wear
- NEWCASTLE UPON TYNE
- Biochemical diagnosis of Peroxisomal disorders (Analyte: Pristanic acid)
- Royal Victoria Infirmary
- More information
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Molecular diagnosis of X-linked Adrenoleukodystrophy (ABCD1 gene)
- AMC - Academisch Medisch Centrum
- More information
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- UNITED KINGDOM
- Cambridgeshire
- CAMBRIDGE
- Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain Fatty Acids - VLCFA)
- Addenbrooke's Hospital
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene: sequencing)
- CeGaT GmbH
- More information
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Biochemical diagnosis of X-linked Adrenoleukodystrophy (ALDP immunofluorescence and VLCFA measurement)
- AMC - Academisch Medisch Centrum
- More information
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Biochemical diagnosis of Mitochondrial Fatty Acid Oxidation Defects (Acylcarnitine Profiling and Tritium Release Assays)
- AMC - Academisch Medisch Centrum
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- 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
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- Biochemical and molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
- CHU de Lyon-GH Est - Hospices Civils de Lyon
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- FRANCE
- LANGUEDOC-ROUSSILLON
- MONTPELLIER
- Preimplantation molecular diagnosis of X-linked cerebral adrenoleukodystrophy (ABCD1 gene)
- IURC - Institut Universitaire de Recherche Clinique
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- FRANCE
- NORD-PAS-DE-CALAIS
- LILLE
- Biochemical diagnosis of X-linked adrenoleukodystrophy
- CHRU de Lille - Centre de biologie pathologie génétique
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- ITALY
- VENETO
- COSTOZZA DI LONGARE
- Molecular diagnosis of X-lined adrenoleukodystrophy (ABCD1 gene)
- B.I.R.D. Foundation
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- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- Laboratorio Genoma
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- Molecular diagnosis of adrenoleucodystrophy (ABCD1 gene)
- Ospedale Regionale per le Microcitemie
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- Biochemical diagnosis of X-linked adrenoleukodystrophies
- Universidad Autónoma de Madrid. Facultad de Ciencias
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
- CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
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- SPAIN
- Comunidad Valenciana
- PATERNA
- Molecular diagnosis of adrenomyeloneuropathy (ABCD1 gene)
- Sistemas Genómicos S.L.
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- Diagnosis of peroxisomal metabolism disorders : very long chain fatty acid analysis (GC/MS)
- Tartu University Hospital
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- DENMARK
- Hovedstaden
- COPENHAGEN
- Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene sequencing)
- Rigshospitalet
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- Biochemical diagnosis of Peroxisomial Disorders (VLCFA, Phytanic and Pristanic Acid by GCMSMS: serum)
- CHU Sart Tilman - Liège
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- Preimplantation genetic diagnosis of the X-linked adrenoleukodystrophy. ABCD1 gene
- Reprogenetics Spain S.A.
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- Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
- Oslo University Hospital, Ullevaal
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- FRANCE
- MIDI-PYRENEES
- TOULOUSE
- Biochemical diagnosis of X-linked adrenoleukodystrophy
- CHU de Toulouse - Hôpital Purpan
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- SLOVENIA
- SLOVENIA
- LJUBLJANA
- Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
- University Medical Centre Ljubljana
- More information
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- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene: sequencing/ MLPA)
- Diagenom GmbH
- More information
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- Molecular diagnosis of adrenoleukodystrophy. Amplification and sequencing of exons 1-10, gene ABCD1
- Genetaq
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- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- Nzoz Genomed
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- SPAIN
- Comunidad Valenciana
- PATERNA
- Molecular diagnosis of X-linked adrenoleukodystrophy. ABCD1 gene (complete sequencing).
- IMEGEN - Instituto de Medicina Genómica
- More information
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- 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
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- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- IRCCS Ospedale Pediatrico Bambino Gesù
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- Biochemical analysis of phytanic acid and very long chain fatty acids in serum by GC/MS
- CHU Sherbrooke - Hôpital Fleurimont
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- Preimplantation genetic diagnosis of X-linked cerebral adrenoleukodystrophy (ABCD1 gene)
- CME Barcelona
- More information
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- Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
- MEDGEN
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Biochemical diagnosis of X-linked adrenoleukodystrophy (very long chain plasmatic fatty acid)
- CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Mass spectometry diagnosis of adrenoleukodystrophy (Analytes: phytanic and pristanic acid, very long chain C22-C26 fatty acids and plasmalogen phospholipids)
- Faculté de Médecine Pierre et Marie Curie - Hôpital Saint-Antoine
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- FRANCE
- LANGUEDOC-ROUSSILLON
- MONTPELLIER
- Biochemical diagnosis of X-linked adrenoleukodystrophy (dosage by GC/MS)
- CHRU de Montpellier - Hôpital Lapeyronie
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- Biochemical diagnosis of peroxisomal diseases (metabolite analysis)
- IRCCS Istituto G. Gaslini - Ospedale Pediatrico
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- Biochemical diagnosis of adrenoleukodystrophy
- Fondazione IRCCS Istituto Neurologico "Carlo Besta"
- More information
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- Biochemical and molecular diagnosis of X-linked adrenoleukodystrophy (XALD). Gene ABCD1.
- Hospital Clínic de Barcelona
- More information
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- Biochemical diagnosis of X-linked adrenoleukodystrophy
- IRCCS Ospedale Pediatrico Bambino Gesù
- More information
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- Biochemical diagnosis of X-linked adrenoleukodystrophy
- Ospedale Regionale per le Microcitemie
- More information
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- Biochemical and molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
- CGMJM - Centro de Genética Médica Jacinto Magalhães
- More information
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- Molecular diagnosis of adrenomyeloneuropathy (ABCD1 gene: sequencing of exon 1)
- University of Tampere
- More information
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- Molecular diagnosis of X-linked Adrenoleukodystrophy (ABCD1 gene)
- Allgemeines Krankenhaus
- More information
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- Biochemical diagnosis of peroxisomal diseases
- Allgemeines Krankenhaus
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Biochemical diagnosis of X-linked adrenoleukodystrophy
- CHU Paris - Hôpital Necker-Enfants Malades
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Peroxysomal diseases testing
- CHU Paris - Hôpital Necker-Enfants Malades
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- HUNGARY
- Dél-Dunántúl
- PECS
- Biochemical diagnosis of X-linked adrenoleukodystrophy
- Department of Paediatrics - Clinical Center - University of Pécs
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- Biochemical genetics diagnosis of X-linked adrenoleukodystrophy : quantitation of very long chain fatty acids
- Institute of Child Health
- More information
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- BULGARIA
- South-West region
- SOFIA
- Biochemical diagnosis of X-linked adrenoleukodystrophy using GCMS analysis
- University hospital of Obstetrics and Gynecology
- More information
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- Biochemical diagnosis of adrenoleukodystrophy, X-linked
- Azienda Ospedaliera Universitaria Anna Meyer
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- CZECH REPUBLIC
- Capital City Prague
- PRAHA
- Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
- Charles University - First faculty of medicine
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- SPAIN
- País Vasco
- BARAKALDO
- Biochemical diagnosis of peroxisoma diseases (long chain fatty acids)
- Hospital Universitario Cruces - Osakidetza
- More information
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- 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
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- GERMANY
- Niedersachsen
- GÖTTINGEN
- Biochemical diagnosis of peroxisomal disorders (metabolite profile)
- Universitätsmedizin Göttingen
- More information
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- Molecular diagnosis of Adrenoleukodystrophy, ALD (ABCD1, Linkage analysis, PGD)
- Shaare Zedek Medical Center
- More information
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- BELGIUM
- ARRONDISSEMENT BRUSSELS-CAPITAL
- BRUSSELS
- Biochemical diagnosis of X-linked adrenoleukodystrophy (VLCFA quantitative)
- Cliniques Universitaires UCL de Saint Luc - UCLStLuc
- More information
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- BELGIUM
- ARRONDISSEMENT BRUSSELS-CAPITAL
- BRUXELLES
- Biochemical analysis of phytanic acid and VLCFA in plasma by GC-MS
- Université Libre de Bruxelles - ULB
- More information
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- UNITED KINGDOM
- Greater London
- LONDON
- Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain Fatty Acids)
- Great Ormond Street Hospital NHS Foundation Trust
- More information
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- SPAIN
- Madrid
- SAN SEBASTIÁN DE LOS REYES
- Molecular diagnosis of X-linked cerebral adrenoleukodystrophy (MLPA analysis of deletions and entire coding sequence of ABCD1 gene)
- Laboratorio de Genética Clínica, S.L.
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Biochemical diagnosis of X-linked adrenoleukodystrophy
- CHU Paris Centre - Hôpital Cochin
- More information
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- Molecular diagnosis of X-linked adrenoleukodystrophy (sequencing of ABCD1 gene)
- Genyca Innova
- More information
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- Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
- Medizinische Universität Wien
- More information
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- Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
- Medizinische Universität Graz
- More information
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- Biochemical diagnosis of peroxisomal diseases
- Medizinische Universität Graz
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- SPAIN
- Andalucía
- CAMPANILLAS
- Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene / sequencing)
- GenoClinics
- More information
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- SLOVAKIA
- Bratislavsky kraj
- BRATISLAVA
- Molecular diagnosis of X-linked adrenoleukodystrophy (ABCD1 gene)
- University Hospital Bratislava - Stare mesto
- More information
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- 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
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- 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
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- 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
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