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Caption : Accreditation =Accreditation
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    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Biochemical and molecular diagnosis of pyruvate dehydrogenase deficiency (DLAT, PDHA1, PDHB, PDHX, DLD and PDP1 genes)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of mitochondriopathies (mtDNA/mtRNA)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (PDHA1, PDHX genes)
    • Medizinisch Genetisches Zentrum München
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Mitochondrial disorders
    • Sheffield Children's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Pyruvate Dehydrogenase Deficiency (DLAT, DLD, PDHA1, PDHB and PDHX gene)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of X-linked Intellectual Deficit due to X-chromosome Inactivation (RFLP and methylation analysis of x-chromosome)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (PDHX gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
    • The Churchill Hospital
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Molecular screening of frequent diseases in Ashkenazi Jewish populations (APEX: ABCC8, AGL, ASPA, BCKDHB, BLM, CFTR, CLRN1, DLD, F11, FANCC, G6PC, GBA, GJB2, HEXA, IKBKAP, LDLR, MCOLN1, MEFV, NEB, PCDH15, SERPINA1, SMPD1, TMEM216 and TOR1A genes)
    • Asper Biotech Ltd.
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (DLD, DLAT, PDHA1, PDHB, PDHX, PDP1 genes)
    • Centogene AG
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of mitochondrial diseases (Mitochondrial genom)
    • Inselspital
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Biochemical diagnosis of Pyruvate carboxylase deficiency & Pyruvate dehydrogenase deficiency (Analyte: Pyruvate)
    • Royal Victoria Infirmary
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (DLD, PDHA1 and PDHB genes: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of mitochondriopathies (mtDNA: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of lipoamide dehydrogenase deficiency (DLD gene)
    • CeGaT GmbH
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Mitochondrial Diseases (Analyte: Lactic Acid, Pyruvic Acid and Ubiquinon)
    • AMC - Academisch Medisch Centrum
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical and molecular diagnosis of pyruvate dehydrogenase deficiency (PDHA1, PDHB, PDHX, PDP1 genes)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical and molecular diagnosis of pyruvate dehydrogenase complex E1 component subunit alpha deficiency (PDHA1 gene)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Biochemical diagnosis of pyruvate dehydrogenase deficiency
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of pyruvate dehydrogenase E3-binding protein deficiency (PDHX gene)
    • Medizinische Universität Wien
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of mitochondrial diseases (mitochondrial genome)
    • Medizinische Universität Wien
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Diagnosis of mitochondrial disorders : quantitative organic acid analysis (GC/MS)
    • Tartu University Hospital
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Pyruvate dehydrogenase E3 deficiency (DLD gene: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of pyruvate dehydrogenase E1-alpha deficiency (PDHA1 gene / sequencing)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of Pyruvate dehydrogenase E1 alpha subunit (PDHA1 gene)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of Pyruvate dehydrogenase E3 subunit (DLD gene)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular screening for Mitochondrial Diseases (mtDNA deletion screen in blood, muscle & liver tissue by southern blot)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of Mitochondrial Diseases (by dHPLC analysis, please contact the lab)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (PDHA1 gene)
    • Technische Universität München
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of mitochondrial diseases (mtDNA/POLG/Twinkle)
    • Karolinska University Hospital - Solna
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of pyruvate dehydrogenase E1-alpha deficiency (PDHA1 gene: exons 6-11)
    • Genetaq
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (PDHA gene)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Biochemical diagnosis of beta-oxidation deficiency (metabolite analysis)
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular and biochemical diagnosis of metabolic encephalomyopathies (ETFDH, ETF, CPT2, MCAD, VLCAD genes)
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • More information
    • ITALY
    • TOSCANA
    • PISA
    • Biochemical diagnosis of mitochondrial diseases
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical and molecular diagnosis of pyruvate dehydrogenase (PD) deficiency (DLAT, DLD, PDHA1, PDHB, PDHX, PDP1 genes)
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical and molecular diagnosis of pyruvate dehydrogenase (PD) deficiency
    • Hospital Clínic de Barcelona
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Histological diagnosis of mitochondrial diseases
    • Universitätsklinikum Bonn
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical and molecular diagnosis of pyruvate dehydrogenase deficiency (DLAT, DLD, PDHA1, PDHB, PDHX, PDP1 genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Biochemical diagnosis of respiratory chain multiple deficiences
    • Ospedale Regionale per le Microcitemie
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical and molecular diagnosis of mitochondrial diseases
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • SPAIN
    • Aragón
    • ZARAGOZA
    • Molecular diagnosis of Mitocondrial Diseases, mitochondrial DNA
    • Universidad de Zaragoza. Facultad de Veterinaria
    • More information
    • GERMANY
    • Berlin
    • BERLIN
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (PDHA1 and PDHB genes)
    • Charité - Universitätsmedizin Berlin (CVK)
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of mitochondrial diseases, clinically undefinite
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Pyruvate Dehydrogenase Deficiency (Analyte: Pyruvate Dehydrogenase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • BULGARIA
    •  South-West region
    • SOFIA
    • Biochemical diagnosis of lipoamide dehydrogenase deficiency using GCMS analysis
    • University hospital of Obstetrics and Gynecology
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (PDHA1 and PDHX genes)
    • Charles University - First faculty of medicine
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of E3 deficiency (DLD gene)
    • Charles University - First faculty of medicine
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Biochemical and molecular diagnosis of pyruvate dehydrogenase deficiency (PDHA1 gene)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
    • Wellcome Trust Centre for Mitochondrial Research
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of mitochondriopathies (lactate, pyruvate/ free fatty acids/ keton bodies/ amino acids in plasma/ organic acids/ CSF lactate/ amino acids in CSF
    • Dietmar-Hopp-Stoffwechselzentrum
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Biochemical genetic diagnosis of Pyruvate dehydrogenase deficiency (Analyte: Pyruvate dehydrogenase)
    • Department of Biochemistry - University of Oxford
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical diagnosis of pyruvate dehydorgenase deficiency (E1 and E3)
    • Ospedale dei Bambini ''Vittore Buzzi"
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Biochemical diagnosis of lipoamide dehydrogenase deficiency (enzymatic test)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • JERUSALEM
    • Biochemical diagnosis of pyruvate dehydrogenase complex (muscle, enzymatic test)
    • Hadassah Ein Kerem - Hebrew University Medical Center
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (Analyte: Pyruvate dehydrogenase)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of pyruvate dehydrogenase complex E1 component subunits alpha and beta deficiency
    • Hospital Universitari Sant Joan de Déu
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (PDHA1, PDHX, PDHB, DLAT, DLD and PDP1 genes: entire coding sequence)
    • 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
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Biochemical diagnosis of pyruvate dehydrogenase complex E1 component subunit alpha deficiency (analyte: lactic acid, pyruvic acid; amino acids profile in serum)
    • University Hospital Bratislava - Stare mesto
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Molecular diagnosis of pyruvate dehydrogenase complex E1component subunit alpha deficiency (PDHA1 gene: sequencing analysis of 11 exons)
    • University Hospital Bratislava - Stare mesto
    • More information