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- Molecular diagnosis of mitochondriopathies (mtDNA/mtRNA)
- Medizinisch Genetisches Zentrum München
- More information
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- Molecular diagnosis of MNGIE syndrome (TYMP and POLG genes)
- Medizinisch Genetisches Zentrum München
- More information
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- UNITED KINGDOM
- South Yorkshire
- SHEFFIELD
- Molecular diagnosis of Mitochondrial disorders
- Sheffield Children's NHS Foundation Trust
- More information
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- Molecular diagnosis of mitochondrial diseases
- Medizinische Genetik Dresden
- More information
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- SWITZERLAND
- Suisse Alémanique
- BERN
- Molecular diagnosis of mitochondrial diseases (Mitochondrial genom)
- Inselspital
- More information
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- SWITZERLAND
- Suisse Alémanique
- BERN
- Molecular diagnosis of mitochondrial neurogastrointestinal encephalopathy disease (TYMP gene)
- Inselspital
- More information
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- SWITZERLAND
- Suisse Alémanique
- BERN
- Molecular diagnosis of mitochondrial DNA depletion syndrome (DGUOK,TK2 and ECGF1 genes)
- Inselspital
- More information
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- NETHERLANDS
- Limburg
- MAASTRICHT
- Molecular diagnosis of Mitochondrial DNA Depletion Syndrome (POLG, DGUOK, MPV17, SUCLA2, TK2, ANT1, SCO2 and TP gene)
- AZM - Academisch Ziekenhuis Maastricht
- More information
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- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis of Mitochondrial DNA Depletion Syndrome (DGUOK, MPV17, POLG, SUCLA2 and TK2 gene)
- UMC St Radboud - Universitair Medisch Centrum St Radboud
- More information
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- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis of MNGIE Syndrome (ECGF1 gene)
- UMC St Radboud - Universitair Medisch Centrum St Radboud
- More information
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- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
- UMC St Radboud - Universitair Medisch Centrum St Radboud
- More information
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- UNITED KINGDOM
- Oxfordshire
- OXFORD
- Molecular diagnosis of mitochondrial DNA depletion syndrome (POLG, PEO1/C10ORF2, DGUOK, RRM2B, MPV17, TK2, SUCLA2 and SUCLG1 genes: mutation screening by sequencing)
- The Churchill Hospital
- More information
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- SWITZERLAND
- Suisse Alémanique
- ZÜRICH
- Biochemical diagnosis of myoneurogastrointestinal encephalopathy syndrome
- Universitäts-Kinderspital
- More information
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- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of MNGIE syndrome (TYMP and POLG genes)
- Institute of Molecular Diagnostics
- More information
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- BELGIUM
- ANTWERPEN
- ANTWERPEN
- Biochemical diagnosis of Purine and pyrimidine metabolism disorders (purines and pyrimidines: HPLC, urine)
- Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
- More information
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- NETHERLANDS
- Utrecht
- UTRECHT
- Biochemical diagnosis of Purine and Pyrimidine Metabolism Defects (Analyte: Purine and Pyrimidine metabolites in urine)
- UMC Utrecht - Universitair Medisch Centrum Utrecht
- More information
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- Molecular diagnosis of POLG gene-associated mitochondrial diseases
- MVZ Fenner & Krasemann
- More information
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- Molecular diagnosis of mitochondrial DNA depletion syndrome (C10orf2, POLG, RRM2B, SUCLA2, TK2 genes)
- MVZ Fenner & Krasemann
- More information
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- Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine and plasma)
- Universitätsklinikum Hamburg-Eppendorf
- More information
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Molecular diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy (TYMP gene)
- AMC - Academisch Medisch Centrum
- More information
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- UNITED KINGDOM
- Greater London
- LONDON
- Biochemical diagnosis of Purine and Pyrimidine disorders (Analyte: Purines/Pyrimidines)
- St Thomas' Hospital
- More information
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- UNITED KINGDOM
- Greater London
- LONDON
- Biochemical diagnosis of Pyrimidine disorders (Analyte: Pyrimidines/metabolites)
- St Thomas' Hospital
- More information
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of POLG gene-associated mitochondrial diseases (sequencing)
- CeGaT GmbH
- More information
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of mitochondriopathies (mtDNA: sequencing)
- CeGaT GmbH
- More information
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Biochemical diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy (Thymidine Phosphorylase activity)
- AMC - Academisch Medisch Centrum
- More information
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Biochemical diagnosis of Pyrimidine Metabolism Disorder (Analyte: beta-, D- and L- Amino Acids, Pyrimidines and Pyrimidine Biosynthesis Intermediates)
- AMC - Academisch Medisch Centrum
- More information
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- NETHERLANDS
- Noord-Holland
- AMSTERDAM
- Biochemical diagnosis of Mitochondrial Diseases (Analyte: Lactic Acid, Pyruvic Acid and Ubiquinon)
- AMC - Academisch Medisch Centrum
- More information
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- FRANCE
- RHONE-ALPES
- GRENOBLE
- Biochemical and molecular diagnosis of mitochondrial diseases
- CHU de Grenoble site Nord - Institut de biologie et de pathologie
- More information
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- Biochemical and molecular diagnosis of MNGIE syndrome (TYMP gene)
- CHU de Lyon-GH Est - Hospices Civils de Lyon
- More information
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- Molecular diagnosis of mitochondrial DNA depletions (TK2, DGUOK, RRM2B, POLG genes)
- CHU de Lyon-GH Est - Hospices Civils de Lyon
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Molecular diagnosis of mitochondrial diseases
- CHU Paris - Hôpital Necker - Enfants Malades
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Molecular genetics diagnosis of mitochondrial DNA depletion syndrome (DGUOK, POLG, TK2, RRM2B and MPV17 genes)
- CHU Paris - Hôpital Necker - Enfants Malades
- More information
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- FRANCE
- ILE-DE-FRANCE
- LE KREMLIN BICETRE
- Biochemical and molecular diagnosis of thymidine phosphorylase deficiency
- CHU de Bicêtre
- More information
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- FRANCE
- ILE-DE-FRANCE
- LE KREMLIN BICETRE
- Molecular diagnosis of mitochondrial DNA depletion syndrome (TK2, DGUOK, POLG, MPV17, TYMP genes)
- CHU de Bicêtre
- More information
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- FRANCE
- PROVENCE-ALPES-COTE D'AZUR
- NICE
- Molecular diagnosis of mitochondrial DNA depletion syndrome (POLG, TK2, C10ORF2, MPV17, DGUOK, RRM2B genes)
- CHU de Nice - Hôpital l'Archet 2
- More information
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- FRANCE
- PAYS DE LA LOIRE
- ANGERS
- Molecular and biochemical diagnosis of mitochondrial diseases (mtDNA)
- CHU d'Angers
- More information
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- FRANCE
- NORD-PAS-DE-CALAIS
- LILLE
- Diagnosis of enzymatic deficiency of respiratory chain on muscular biopsy
- CHRU de Lille - Centre de biologie et pathologie
- More information
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- Molecular diagnosis of mtDNA depletion syndrome (mtDNA and TK2, DGUOK, POLG1, MPV17, C10ORF, RRM2B, SUCLA2, SUCLG1, TYMP genes)
- Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
- More information
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- Biochemical diagnosis of pyrimidine metabolism disorders
- Universidad Autónoma de Madrid. Facultad de Ciencias
- More information
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- Molecular diagnosis of mitochondrial myopathies (MTTN, MTTS1, MTTE, MTTF, MTTL1, MTTL2, MTCO2, and MTCO3 gene)
- Medizinische Universität Wien
- More information
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- Molecular diagnosis of mitochondrial DNA depletion syndrome, MNGIE type (TYMP, POLG, and RRM2B genes)
- Medizinische Universität Wien
- More information
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- Molecular diagnosis of mitochondrial diseases (mitochondrial genome)
- Medizinische Universität Wien
- More information
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- Diagnosis of muscular diseases on muscle biopsies (histology, enzyme- and immunohistochemistry, electron microscopy)
- Medizinische Universität Wien
- More information
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- SPAIN
- Comunidad Valenciana
- PATERNA
- Molecular diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP, POLG gene)
- Sistemas Genómicos S.L.
- More information
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- Diagnosis of mitochondrial disorders : quantitative organic acid analysis (GC/MS)
- Tartu University Hospital
- More information
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- DENMARK
- Hovedstaden
- COPENHAGEN
- Molecular diagnosis of mitochondrial depletion syndrome (DGUOK and TYMP gene sequencing)
- Rigshospitalet
- More information
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- DENMARK
- Hovedstaden
- COPENHAGEN
- Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene sequencing)
- Rigshospitalet
- More information
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- Molecular diagnosis of mitochondrial DNA depeletion syndrome (SUCLA2 and POLG genes)
- Praxis für Humangenetik
- More information
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- BELGIUM
- ANTWERPEN
- ANTWERPEN
- Molecular diagnosis of PEO, SANDO, Alpers syndrome, MNGIE (POLG, C10ORF2 genes)
- University of Antwerp - UA
- More information
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- BELGIUM
- ARRONDISSEMENT BRUSSELS-CAPITAL
- BRUSSELS
- Molecular diagnosis of Mitochondrial DNA depletion syndromes (DGUOK, MPV17, RRM2B, POLG, SUCLA2, SUCLG1, MTTK/TK, TYMP/MNGIE, C10-Orf2 genes by sequencing)
- Universitair Ziekenhuis Brussel - UZBrussel
- More information
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- 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
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- BELGIUM
- ARRONDISSEMENT BRUSSELS-CAPITAL
- BRUSSELS
- Molecular diagnosis of Mitochondrial Diseases (by dHPLC analysis, please contact the lab)
- Universitair Ziekenhuis Brussel - UZBrussel
- More information
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- BELGIUM
- ARRONDISSEMENT BRUSSELS-CAPITAL
- BRUSSELS
- Molecular diagnosis of MNGIE syndrome (TYMP & RRM2B genes)
- Universitair Ziekenhuis Brussel - UZBrussel
- More information
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- SWEDEN
- Stockholms läns landsting
- STOCKHOLM
- Molecular diagnosis of mitochondrial diseases (mtDNA/POLG/Twinkle)
- Karolinska University Hospital - Solna
- More information
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- Molecular diagnosis of Mitochondrial DNA depletion syndromes (TK2, SUCLA2, sequencing analysis)
- Wolfson Medical Center
- More information
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- Molecular diagnosis of POLG-related disorders (POLG, sequencing analysis, PGD)
- Wolfson Medical Center
- More information
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- Molecular diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP, POLG genes)
- IRCCS Ospedale Pediatrico Bambino Gesù
- More information
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- Molecular diagnosis of POLG gene-associated mitochondrial diseases (sequencing, MLPA)
- Gemeinschaftspraxis für Humangenetik
- More information
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- Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine by LC/UV)
- CHU Sherbrooke - Hôpital Fleurimont
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Molecular diagnosis of mitochondrial diseases : search for deletions or depletions of mitochondrial DNA
- CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Molecular diagnosis of mitochondrial DNA depletion syndrome (DGUOK, MPV17, TK2 genes)
- CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Molecular diagnosis of mitochondrial diseases (sequencing)
- CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
- More information
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- FRANCE
- BASSE-NORMANDIE
- CAEN
- Molecular diagnosis of mitochondrial diseases (mtDNA)
- CHU de Caen - Hôpital de la Côte de Nacre
- More information
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- FRANCE
- AQUITAINE
- BORDEAUX
- Molecular diagnosis of mitochondrial diseases
- CHU de Bordeaux-GH Pellegrin
- More information
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- FRANCE
- AQUITAINE
- BORDEAUX
- Biochemical study of mitochondrial phrosphorilative oxydation deficiencies : enzymatic and polarographic studies - Mitochondrial haplotypes determination
- Université Bordeaux 2 - Victor Ségalen
- More information
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- Biochemical diagnosis of pyrimidine metabolism diseases
- IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- More information
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- Biochemical diagnosis of beta-oxidation deficiency (metabolite analysis)
- IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- More information
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- Molecular and biochemical diagnosis of metabolic encephalomyopathies (ETFDH, ETF, CPT2, MCAD, VLCAD genes)
- Fondazione IRCCS Istituto Neurologico "Carlo Besta"
- More information
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- Biochemical diagnosis of mitochondrial diseases
- Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
- More information
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- Molecular diagnosis of POLG related disorders
- Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
- More information
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- Biochemical diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (thymidine phosphorylase)
- Università degli Studi di Siena
- More information
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- Molecular diagnosis of mitochondrial DNA depletion syndrome
- Klinikum Schwabing, Städt. Klinikum GmbH
- More information
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- Molecular diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome
- Klinikum Schwabing, Städt. Klinikum GmbH
- More information
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- Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
- Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
- More information
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- Biochemical and molecular diagnosis of mitochondrial DNA depletion syndrome. DGUOK gene.
- Hospital Clínico de Barcelona (Edificio Helios III)
- More information
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- ITALY
- EMILIA ROMAGNA
- BOLOGNA
- Molecular diagnosis of POLG related diseases
- Azienda Ospedaliera di Bologna - Policlinico S. Orsola-Malpighi
- More information
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- GERMANY
- Nordrhein-Westfalen
- BONN
- Histological diagnosis of mitochondrial diseases
- Universitätsklinikum Bonn
- More information
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- GERMANY
- Nordrhein-Westfalen
- BONN
- Histological diagnosis of Neuromuscular diseases
- Universitätsklinikum Bonn
- More information
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- Biochemical diagnosis of respiratory chain defects and mitochondrial ATP synthesis
- IRCCS Ospedale Pediatrico Bambino Gesù
- More information
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- Biochemical diagnosis of respiratory chain multiple deficiences
- Ospedale Regionale per le Microcitemie
- More information
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- Biochemical and molecular diagnosis of mitochondrial diseases
- CGMJM - Centro de Genética Médica Jacinto Magalhães
- More information
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- Molecular diagnosis of Mitocondrial Diseases, mitochondrial DNA
- Universidad de Zaragoza. Facultad de Veterinaria
- More information
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- Molecular and biochemical diagnosis of mitochondrial ADN deletions and duplications
- Universitat de Barcelona. Facultat de Medicina
- More information
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- Molecular diagnosis of POLG gene-associated mitochondrial diseases
- Charité - Universitätsmedizin Berlin (CVK)
- More information
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- ITALY
- FRIULI VENEZIA GIULIA
- TRIESTE
- Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TTP gene)
- IRCCS Burlo Garofolo - Istituto per l'Infanzia
- More information
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- ITALY
- FRIULI VENEZIA GIULIA
- TRIESTE
- Molecular diagnosis of mitochondrial DNA depletion syndrome
- IRCCS Burlo Garofolo - Istituto per l'Infanzia
- More information
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- ITALY
- FRIULI VENEZIA GIULIA
- TRIESTE
- Molecular diagnosis of mitochondrial diseases, clinically undefinite
- IRCCS Burlo Garofolo - Istituto per l'Infanzia
- More information
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- ITALY
- FRIULI VENEZIA GIULIA
- TRIESTE
- Molecular diagnosis of mitochondrial DNA deletions and duplications
- IRCCS Burlo Garofolo - Istituto per l'Infanzia
- More information
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- BULGARIA
- South-West region
- SOFIA
- Biochemical diagnosis of pyrimidine metabolism disorders using GCMS analysis
- University hospital of Obstetrics and Gynecology
- More information
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- CZECH REPUBLIC
- Capital City Prague
- PRAHA
- Molecular diagnosis of MNGIE syndrome (TYMP gene)
- Charles University - First faculty of medicine
- More information
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- GERMANY
- Rheinland-Pfalz
- LUDWIGSHAFEN
- Molecular diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome (TYMP, POLG genes)
- Klinikum der Stadt Ludwigshafen gGmbH
- More information
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- GERMANY
- Rheinland-Pfalz
- LUDWIGSHAFEN
- Molecular diagnosis of mitochondriopathies: deletions/duplications, point mutations of mtDNA
- Klinikum der Stadt Ludwigshafen gGmbH
- More information
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- Biochemical diagnosis of myoneurogastrointestinal encephalopathy syndrome
- Azienda Ospedaliera Universitaria Anna Meyer
- More information
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- GREECE
- EVROS
- ALEXANDROUPOLIS
- Molecular diagnosis of mitochondrial disorders due to mtDNA deletions
- University of Thrace - Medical School
- More information
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- SWITZERLAND
- Suisse Romande
- LAUSANNE
- Screen of Purines and Pyrimidines in urine
- Centre Hospitalier Universitaire Vaudois - CHUV
- More information
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- Molecular and biochemistry diagnosis of myoneurogastrointestinal encephalopathy syndrome, MNGIE, due tothymidine phosphorylase deficiency (TYMP gene)
- Università degli Studi di Catania
- More information
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- 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
- Universitätsklinikum Heidelberg
- More information
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- GERMANY
- Baden-Württemberg
- HEIDELBERG
- Biochemical diagnosis of thymidine phosphorylase deficiency (purines and pyrimidines in urine)
- Universitätsklinikum Heidelberg
- More information
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- GERMANY
- Niedersachsen
- GÖTTINGEN
- Molecular diagnosis of mitochondriopathies (mtDNA: deletion and duplication screening)
- Universitätsmedizin Göttingen
- More information
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- SPAIN
- Cataluña
- ESPLUGUES DE LLOBREGAT
- Biochemical diagnosis of myoneurogastrointestinal encephalopathy syndrome.
- Hospital Universitari Sant Joan de Déu
- More information
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- SPAIN
- Cataluña
- ESPLUGUES DE LLOBREGAT
- Biochemical diagnosis of mitochondrial DNA depletion syndrome
- Hospital Universitari Sant Joan de Déu
- More information
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- NETHERLANDS
- Limburg
- MAASTRICHT
- Biochemical diagnosis of Myoneurogastrointestinal Encephalopathy Syndrome (Analyte: Thymidine Phosphorylase)
- AZM - Academisch Ziekenhuis Maastricht
- More information
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- Biochemical and molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
- Institut de Recerca Hospital Universitari Vall d'Hebron
- More information
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- Molecular diagnosis of mitochondrial DNA deletions and duplications
- Institut de Recerca Hospital Universitari Vall d'Hebron
- More information
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- Molecular diagnosis of mitochondrial DNA depletion syndrome (DGUOK, RRM2B, TK2 genes)
- Institut de Recerca Hospital Universitari Vall d'Hebron
- More information
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- Biochemical diagnosis of OXPHOS diseases
- Institut de Recerca Hospital Universitari Vall d'Hebron
- More information
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- Biochemical diagnosis of mitochondrial DNA depletion syndrome
- CBMSO - Centro de Biología Molecular Severo Ochoa
- More information
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- GERMANY
- Niedersachsen
- HANNOVER
- Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine)
- Medizinische Hochschule Hannover
- More information
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- GERMANY
- Niedersachsen
- HANNOVER
- Biochemical diagnosis of mitochondrial respiratory chain deficiency (enzyme assay complex I-V)
- Medizinische Hochschule Hannover
- More information
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- CZECH REPUBLIC
- South Bohemia
- CESKE BUDEJOVICE
- Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
- Hospital Ceské Budejovice
- More information
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- Biochemical diagnosis of mitochondrial oxidative phosphorylation disorder (enzymatic studies: Citrate synthase, NADH Decylubiquinone oxidoreductase, Succinate-Decylubiquinone dehydrogenase, DBH2 Cytochrome C Oxidoreductase, Cytochrome C Oxidase, NADH-Cytochrome C Reductase, Succinate-Cytochrome C Reductase)
- Hospital Universitario 12 de Octubre
- More information
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- Biochemical diagnosis of purine or pyrimidine metabolism disorder
- Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
- 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
