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Caption : Accreditation =Accreditation
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    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Biochemical and molecular diagnosis of thymidine phosphorylase deficiency
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Molecular diagnosis of mitochondrial DNA depletion syndrome (TK2, DGUOK, POLG, MPV17, TYMP genes)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Molecular diagnosis of mitochondrial DNA depletion syndrome (POLG, TK2, C10ORF2, MPV17, DGUOK genes and mtDNA)
    • CHU de Nice - Hôpital l'Archet 2
    • 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 MNGIE syndrome (TYMP and POLG 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
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Molecular diagnosis of mitochondrial diseases
    • Gemeinschaftspraxis Dr. Prager / Dr. Junge / Dr. Hennig / Dr. Linné
    • 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
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of Mitochondrial DNA Depletion Syndrome (POLG, DGUOK, MPV17, SUCLA2, TK2, ANT1, SCO2 and TP gene)
    • AZM - Academisch Ziekenhuis Maastricht
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Mitochondrial DNA Depletion Syndrome (DGUOK, MPV17, POLG, SUCLA2 and TK2 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of MNGIE Syndrome (ECGF1 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
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
    • The Churchill Hospital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • ZÜRICH
    • Accreditation
    • Biochemical diagnosis of myoneurogastrointestinal encephalopathy syndrome
    • Universitäts-Kinderspital
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of MNGIE syndrome (TYMP and POLG genes)
    • Centogene AG
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN
    • Accreditation
    • Biochemical diagnosis of Purine and pyrimidine metabolism disorders (purines and pyrimidines: HPLC, urine)
    • Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Biochemical diagnosis of Purine and Pyrimidine Metabolism Defects (Analyte: Purine and Pyrimidine metabolites in urine)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of POLG gene-associated mitochondrial diseases
    • MVZ Fenner & Krasemann
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of mitochondrial DNA depletion syndrome (C10ORF2, POLG, RRM2B, SUCLA2, TK2 genes)
    • MVZ Fenner & Krasemann
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of mitochondrial diseases (Mitochondrial genom)
    • Inselspital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of mitochondrial neurogastrointestinal encephalopathy disease (TYMP gene)
    • Inselspital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of mitochondrial DNA depletion syndrome (DGUOK,TK2 and ECGF1 genes)
    • Inselspital
    • More information
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Accreditation
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Accreditation
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine and plasma)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy (TYMP gene)
    • AMC - Academisch Medisch Centrum
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Biochemical diagnosis of Purine and Pyrimidine disorders (Analyte: Purines/Pyrimidines)
    • St Thomas' Hospital
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Biochemical diagnosis of Pyrimidine disorders (Analyte: Pyrimidines/metabolites)
    • St Thomas' Hospital
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of POLG gene-associated mitochondrial diseases (sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of mitochondriopathies (mtDNA: sequencing)
    • CeGaT GmbH
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy (Thymidine Phosphorylase activity)
    • AMC - Academisch Medisch Centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Pyrimidine Metabolism Disorder (Analyte: beta-, D- and L- Amino Acids, Pyrimidines and Pyrimidine Biosynthesis Intermediates)
    • AMC - Academisch Medisch Centrum
    • 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
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Biochemical and molecular diagnosis of mitochondrial diseases
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical and molecular diagnosis of MNGIE syndrome (TYMP gene)
    • CHU de Lyon-GH Est - Hospices Civils de Lyon
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Molecular diagnosis of mitochondrial DNA depletions (TK2, DGUOK, RRM2B, POLG genes)
    • CHU de Lyon-GH Est - Hospices Civils de Lyon
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular genetics diagnosis of mitochondrial DNA depletion syndrome (DGUOK, POLG, TK2, RRM2B genes and mtDNA quantitation)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Diagnosis of enzymatic deficiency of respiratory chain on muscular biopsy
    • CHRU de Lille - Centre de biologie pathologie génétique
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • 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
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical diagnosis of pyrimidine metabolism disorders
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of mitochondrial myopathies (MTTN, MTTS1, MTTE, MTTF, MTTL1, MTTL2, MTCO2, and MTCO3 gene)
    • Medizinische Universität Wien
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of mitochondrial DNA depletion syndrome, MNGIE type (TYMP, POLG, and RRM2B genes)
    • Medizinische Universität Wien
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of mitochondrial diseases (mitochondrial genome)
    • Medizinische Universität Wien
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP, POLG gene)
    • Sistemas Genómicos S.L.
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Diagnosis of mitochondrial disorders : quantitative organic acid analysis (GC/MS)
    • Tartu University Hospital
    • More information
    • DENMARK
    • Hovedstaden
    • COPENHAGEN
    • Molecular diagnosis of mitochondrial depletion syndrome (DGUOK and TYMP gene sequencing)
    • Rigshospitalet
    • More information
    • DENMARK
    • Hovedstaden
    • COPENHAGEN
    • Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene sequencing)
    • Rigshospitalet
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of mitochondrial DNA depeletion syndrome (SUCLA2 and POLG genes)
    • Praxis für Humangenetik
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN
    • Molecular diagnosis of PEO, SANDO, Alpers syndrome, MNGIE (POLG, C10ORF2 genes)
    • University of Antwerp - UA
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Mitochondrial DNA depletion syndrome (POLG gene: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • 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
    • 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
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of MNGIE syndrome (TYMP & RRM2B genes)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of mitochondrial diseases (mtDNA/POLG/Twinkle)
    • Karolinska University Hospital - Solna
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP, POLG genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of POLG gene-associated mitochondrial diseases (sequencing, MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of MNGIE syndrome (TYMP gene: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • CANADA
    • Québec
    • SHERBROOKE
    • Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine by LC/UV)
    • CHU Sherbrooke - Hôpital Fleurimont
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of mitochondrial DNA depletion syndrome (DGUOK, MPV17, TK2 genes ; Q-PCR)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Biochemical study of mitochondrial phrosphorilative oxydation deficiencies : enzymatic and polarographic studies - Mitochondrial haplotypes determination
    • Université Bordeaux 2 - Victor Ségalen
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Biochemical diagnosis of pyrimidine metabolism diseases
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • 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
    • ITALY
    • TOSCANA
    • PISA
    • Molecular diagnosis of POLG related disorders
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Biochemical diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (thymidine phosphorylase)
    • Università degli Studi di Siena
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of mitochondrial DNA depletion syndrome
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical and molecular diagnosis of mitochondrial DNA depletion syndrome. DGUOK gene.
    • Hospital Clínic de Barcelona
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • BOLOGNA
    • Molecular diagnosis of POLG related diseases
    • Azienda Ospedaliera di Bologna - Policlinico S. Orsola-Malpighi
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Histological diagnosis of mitochondrial diseases
    • Universitätsklinikum Bonn
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Histological diagnosis of Neuromuscular diseases
    • Universitätsklinikum Bonn
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical diagnosis of respiratory chain defects and mitochondrial ATP synthesis
    • 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
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular and biochemical diagnosis of mitochondrial ADN deletions and duplications
    • Universitat de Barcelona. Facultat de Medicina
    • More information
    • GERMANY
    • Berlin
    • BERLIN
    • Molecular diagnosis of POLG gene-associated mitochondrial diseases
    • Charité - Universitätsmedizin Berlin (CVK)
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TTP gene)
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of mitochondrial DNA depletion syndrome
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of mitochondrial diseases, clinically undefinite
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of mitochondrial DNA deletions and duplications
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • BULGARIA
    •  South-West region
    • SOFIA
    • Biochemical diagnosis of pyrimidine metabolism disorders using GCMS analysis
    • University hospital of Obstetrics and Gynecology
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of MNGIE syndrome (TYMP gene)
    • Charles University - First faculty of medicine
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Molecular diagnosis of MNGIE syndrome (TYMP and POLG genes)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Molecular diagnosis of mitochondriopathies: deletions/duplications, point mutations of mtDNA
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Biochemical diagnosis of myoneurogastrointestinal encephalopathy syndrome
    • Azienda Ospedaliera Universitaria Anna Meyer
    • More information
    • GREECE
    • EVROS
    • ALEXANDROUPOLIS
    • Molecular diagnosis of mitochondrial disorders due to mtDNA deletions
    • University of Thrace - Medical School
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Screen of Purines and Pyrimidines in urine
    • Centre Hospitalier Universitaire Vaudois CHUV
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE
    • Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
    • Wellcome Trust Centre for Mitochondrial Research
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE
    • Molecular diagnosis of Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (Multigene Panel; 13 genes)
    • Wellcome Trust Centre for Mitochondrial Research
    • More information
    • ITALY
    • SICILIA
    • CATANIA
    • Molecular and biochemistry diagnosis of myoneurogastrointestinal encephalopathy syndrome, MNGIE, due tothymidine phosphorylase deficiency (TYMP gene)
    • Università degli Studi di Catania
    • 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
    • Universitätsklinikum Heidelberg
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Biochemical diagnosis of thymidine phosphorylase deficiency (purines and pyrimidines in urine)
    • Universitätsklinikum Heidelberg
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Molecular diagnosis of mitochondriopathies (mtDNA: deletion and duplication screening)
    • Universitätsmedizin Göttingen
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Molecular diagnosis of Mitochondrial DNA depletion syndromes (TK2, SUCLA2, sequencing analysis)
    • Wolfson Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Molecular diagnosis of POLG-related disorders (POLG, sequencing analysis, PGD)
    • Wolfson Medical Center
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of myoneurogastrointestinal encephalopathy syndrome.
    • Hospital Universitari Sant Joan de Déu
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of mitochondrial DNA depletion syndrome
    • Hospital Universitari Sant Joan de Déu
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Biochemical diagnosis of Myoneurogastrointestinal Encephalopathy Syndrome (Analyte: Thymidine Phosphorylase)
    • AZM - Academisch Ziekenhuis Maastricht
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical and molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
    • Institut de Recerca Hospital Universitari Vall d'Hebron
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of mitochondrial DNA deletions and duplications
    • Institut de Recerca Hospital Universitari Vall d'Hebron
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of mitochondrial DNA depletion syndrome (DGUOK, RRM2B, TK2 genes)
    • Institut de Recerca Hospital Universitari Vall d'Hebron
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of OXPHOS diseases
    • Institut de Recerca Hospital Universitari Vall d'Hebron
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical diagnosis of mitochondrial DNA depletion syndrome
    • CBMSO - Centro de Biología Molecular Severo Ochoa
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine)
    • Medizinische Hochschule Hannover
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Biochemical diagnosis of mitochondrial respiratory chain deficiency (enzyme assay complex I-V)
    • Medizinische Hochschule Hannover
    • More information
    • CZECH REPUBLIC
    • South Bohemia
    • CESKE BUDEJOVICE
    • Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
    • Hospital Ceské Budejovice
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • 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
    • ITALY
    • MARCHE
    • ANCONA
    • Biochemical diagnosis of purine or pyrimidine metabolism disorder (urinary pyrimidine and purine assay)
    • Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
    • 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 purine and pyrimidine metabolism defects (analyte: purine and pyrimidine metabolites in urine)
    • University Hospital Bratislava - Stare mesto
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine)
    • Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
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