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- Molecular diagnosis of Leigh disease (MTATP6 gene: 8993T/G and 8993T/C)
- Medizinisches Versorgungszentrum Humane Genetik
- More information
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- Molecular diagnosis of mitochondriopathies (mtDNA/mtRNA)
- Medizinisch Genetisches Zentrum München
- More information
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- Molecular diagnosis of Leigh disease (following determination of respiratory chain enzymes in the muscle) (BCS1L, COX10, COX15, MTATP6, MTATP8, MTND1, NDUFV1, NDUFV2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SCO1, SCO2, SDHA, SURF1 genes
- Medizinisch Genetisches Zentrum München
- More information
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- Molecular diagnosis of mitochondrial respiratory chain deficiency in complex IV (COX10, COX15, MTCO1, MTCO2, MTCO3, SCO1, SCO2, SURF1, TACO1 genes)
- Medizinisch Genetisches Zentrum München
- More information
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- Molecular diagnosis of mitochondrial respiratory chain deficiency in complex V (MTAPT6 and MTATP8 genes)
- Medizinisch Genetisches Zentrum München
- More information
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- Molecular diagnosis of X-linked Leigh syndrome (PDHA1 gene)
- Medizinisch Genetisches Zentrum München
- More information
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- GERMANY
- Rheinland-Pfalz
- INGELHEIM AM RHEIN
- Molecular diagnosis of primary coenzyme Q10 deficiency-3 and 6 (COQ6, PDSS2 genes: sequencing)
- Bioscientia Institut für Medizinische Diagnostik GmbH
- More information
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- UNITED KINGDOM
- Greater London
- LONDON
- Molecular diagnosis of Cytochrome Oxidase Deficiency (Sco1, Sco2 and Surf 1) by whole gene sequence analysis
- UCL Hospitals
- 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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- NETHERLANDS
- Limburg
- MAASTRICHT
- Molecular diagnosis of Leigh Syndrome (mtDNA and SURF1 gene)
- AZM - Academisch Ziekenhuis Maastricht
- More information
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- NETHERLANDS
- Gelderland
- NIJMEGEN
- Molecular diagnosis of Leigh Syndrome, French-Canadian type (LRPPRC gene)
- Radboudumc - Radboud universitair medisch centrum
- More information
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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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- UNITED KINGDOM
- West Midlands
- BIRMINGHAM
- Molecular diagnosis of autosomal recessive Leigh disease (SURF1 gene c.312_321del10ins2)
- Birmingham Children's Hospital
- More information
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- UNITED KINGDOM
- Oxfordshire
- OXFORD
- Molecular diagnosis of Mitochondrial diseases (common mtDNA point mutations, mtDNA rearrangements and depletion)
- The Churchill Hospital
- More information
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- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Biochemical diagnosis of Leigh disease (enzyme assay)
- Centogene AG
- More information
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- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of Coenzyme Q 10 deficiency (ADCK3, APTX, COQ2, COQ9, PDSS1, PDSS2 genes)
- Centogene AG
- More information
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- GERMANY
- Mecklenburg-Vorpommern
- ROSTOCK
- Molecular diagnosis of Leigh disease (BCS1L, COX6B1, COX10, COX15, C8ORF38, DLD, LRPPRC, NDUFA10, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PDHA1, PDSS2, SCO1, SCO2, SDHA, SURF1, TACO1 genes)
- Centogene AG
- 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 Leigh syndrome (Surf1, BCS1L, COX10, COX15, SCO1, SCO2 genes)
- Inselspital
- More information
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- CANADA
- Québec
- MONT-ROYAL, MONTRÉAL
- Molecular diagnosis of Saguenay-Lac-St. Jean cytochrome oxidase deficiency (LRPPRC gene / mutation p.354V)
- PROCREA Cliniques
- More information
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- UNITED KINGDOM
- Tyne & Wear
- NEWCASTLE UPON TYNE
- Biochemical diagnosis of Leigh disease (Analyte: Respiratory chain complex IV)
- Royal Victoria Infirmary
- More information
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of X-linked Leigh syndrome (PDHA1 gene: 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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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of Leigh syndrome (BCS1L, C8ORF38, COX10, COX15, DLD, LRPPRC, NDUFA2, SDHA, TACO1 genes)
- CeGaT GmbH
- More information
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- GERMANY
- Baden-Württemberg
- TÜBINGEN
- Molecular diagnosis of mitochondrial respiratory chain deficiency complex I (NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1 genes)
- CeGaT GmbH
- 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
- Molecular diagnosis of Leigh disease (SURF1, SCO2 genes and ADNm)
- CHU de Grenoble site Nord - Institut de biologie et de pathologie
- 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 Leigh disease (MT-ATP6, SURF1 and TACO1 genes)
- CHU de Lyon-GH Est - Hospices Civils de Lyon
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Molecular diagnosis of Leigh disease (SURF1, COX10, COX15, SCO2, MT-ND5, MT-ND3, MT-TWand MT-ATP6 genes)
- CHU Paris - Hôpital Necker-Enfants Malades
- More information
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- FRANCE
- ILE-DE-FRANCE
- LE KREMLIN-BICÊTRE
- Biochemical and molecular diagnosis of cytochrome c oxidase deficiency (SURF1, COX10, SCO1, SCO2 genes)
- GHU Paris-Sud - Hôpital de Bicêtre
- More information
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- FRANCE
- ILE-DE-FRANCE
- LE KREMLIN-BICÊTRE
- Biochemical diagnosis of Leigh disease
- GHU Paris-Sud - Hôpital de Bicêtre
- More information
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- FRANCE
- PROVENCE-ALPES-COTE D'AZUR
- NICE
- Biochemical diagnosis of respiratory chain deficiencies
- CHU de Nice - Hôpital l'Archet 2
- More information
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- FRANCE
- PROVENCE-ALPES-COTE D'AZUR
- NICE
- Molecular diagnosis of Leigh syndrome (SCO2, COQ2 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 pathologie génétique
- More information
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- Biochemical and molecular diagnosis of Leigh disease (SURF1, PDHA1 genes)
- Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
- More information
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- Molecular diagnosis of cytochrome C oxidase deficiency (MT-CO1, MT-CO2, MT-CO3, SURF1, SCO2, COX10, COX15, SCO1, FASTKD2 genes)
- Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
- More information
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- Molecular diagnosis of Leigh disease (mutation m.8993T>G/C)
- University of Turku
- More information
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- Molecular diagnosis of Leigh syndrome (MTND1, 2, 3, 4, 5, and 6, MTATP6, MTCO3, MTTW, and MTTV 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 mitochondrial disorders : quantitative organic acid analysis (GC/MS)
- Tartu University Hospital
- More information
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- GERMANY
- Niedersachsen
- OSNABRÜCK
- Molecular diagnosis of Leigh disease (MTATP6 and SURF1 genes)
- Praxis Dres. Gencik
- More information
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- GERMANY
- Sachsen
- WEIßWASSER
- Molecular diagnosis of Coenzyme Q 10 deficiency (COQ2, COQ9, PDSS1, PDSS2 genes)
- Praxis Dr. Mato Nagel
- More information
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- DENMARK
- Hovedstaden
- COPENHAGEN
- Molecular diagnosis of Leigh disease (SURF1 gene)
- Rigshospitalet
- More information
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- HUNGARY
- Dél-Dunántúl
- PECS
- 'Molecular diagnosis of mitochondriopathies (direct sequencing of MT-RNR2, MT-ND1, MT-ND2, MT-TI, MT-TL1 and MT-TM; sequencing of mtDNA regions 57-372 and 16024-16383; sequencing of the entire mtDNA)'
- Clinical Center - University of Pécs
- More information
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- Molecular diagnosis of mitochondrial cytopathies: Analysis of the targeted mutations (del4977bp, G3460A, G11778A, T8993C, T8993G, A3271G, A3243G, T8356C, A8344G)
- CGC Genetics / Centro de Genética Clínica
- 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 Leigh and Leigh-like syndromes (MT-ND5, COX15, MT-TK, MT-TL1 genes by sequencing)
- Universitair Ziekenhuis Brussel - UZBrussel
- More information
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- Molecular diagnosis of Leigh disease (BCS1L, COX10, COX15, SCO1, SCO2, SDHA and SURF1 genes)
- Technische Universität München
- 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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- SWEDEN
- Stockholms läns landsting
- STOCKHOLM
- Molecular diagnosis of Leigh disease
- Karolinska University Hospital - Solna
- More information
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- Molecular diagnosis of Leigh syndrome with leukodystrophy (SDHA gene: sequencing)
- Gemeinschaftspraxis für Humangenetik
- More information
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- Molecular diagnosis of French-Canadian type Cytochrome C oxidase (COX) deficiency (A354V & C1277Xdel8 mutations in LRPPRC gene by PCR + rtPCR)
- Centre hospitalier universitaire Sainte-Justine
- More information
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- FRANCE
- ILE-DE-FRANCE
- PARIS
- Biochemical diagnosis of Leigh disease
- 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 Leigh disease ( SURF1 gene)
- 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
- 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 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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- Biochemical diagnosis of mitochondrial respiratory chain deficiency (complex I-IV)
- Labor für molekulare Genetik und metabolische Erkrankungen
- More information
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- Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex I genes: MTND1-6, NDUFAF2, NDUFV1, NDUFV2, NDUFS1-4, NDUFS6-8)
- Klinikum Schwabing, Städt. Klinikum GmbH
- More information
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- Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex II gene: SDHA)
- Klinikum Schwabing, Städt. Klinikum GmbH
- More information
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- Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex III genes: BCS1L, MTCYB, UQCRB)
- Klinikum Schwabing, Städt. Klinikum GmbH
- More information
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- Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex IV genes: COX10, COX15, ETHE1, LRPPRC, MTCOI-III, SCO1, SCO2, SURF1)
- Klinikum Schwabing, Städt. Klinikum GmbH
- More information
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- Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex V genes: ATPAF2, MTATP6, MTATP8, SLC25A3)
- Klinikum Schwabing, Städt. Klinikum GmbH
- More information
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- Molecular diagnosis of Leigh disease (MT-ATP6, MT-CO2, MT-CO3, MT-ND3, MT-ND5, MT-ND6, MT-TW genes)
- Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
- More information
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- Biochemical diagnosis of Leigh syndrome.
- Hospital Clínic de Barcelona
- More information
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- GERMANY
- Nordrhein-Westfalen
- BONN
- Histological diagnosis of mitochondrial diseases
- Universitätsklinikum Bonn
- 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 diagnosis of Leigh disease (MTATP6, SURF1 and SCO2 genes)
- Charité - Universitätsmedizin Berlin (CVK)
- More information
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- ITALY
- FRIULI VENEZIA GIULIA
- TRIESTE
- Molecular diagnosis of Leigh 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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- NETHERLANDS
- Zuid-Holland
- ROTTERDAM
- Biochemical diagnosis of Complex IV Deficiency (Analyte: Cytochrome C Oxidase)
- Erasmus MC, Faculteitsgebouw
- More information
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- CZECH REPUBLIC
- Capital City Prague
- PRAHA
- Postnatal and prenatal molecular diagnosis of Leigh disease (SURF1 gene)
- Charles University - First faculty of medicine
- More information
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- GERMANY
- Rheinland-Pfalz
- LUDWIGSHAFEN
- Molecular diagnosis of Leigh disease (BCS1L, MTATP6, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, SDHA, SURF1 genes)
- Klinikum der Stadt Ludwigshafen gGmbH
- More information
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- GERMANY
- Rheinland-Pfalz
- LUDWIGSHAFEN
- Biochemical and molecular diagnosis of mitochondrial respiratory chain deficiency complex IV (MTCO1, MTCO2, MTCO3, COX10, COX15, MTTS1, SCO1, SCO2, SURF1 genes)
- Klinikum der Stadt Ludwigshafen gGmbH
- 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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- UNITED KINGDOM
- Oxfordshire
- OXFORD
- Biochemical genetic diagnosis of Leigh disease (Analyte: Respiratory chain complexes II, III & IV)
- Department of Biochemistry - University of Oxford
- More information
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- UNITED KINGDOM
- Oxfordshire
- OXFORD
- Biochemical genetic diagnosis of Cytochrome oxidase deficiency (Analyte: Respiratory chain complex IV)
- Department of Biochemistry - University of Oxford
- More information
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- FRANCE
- LORRAINE
- VANDOEUVRE-LES-NANCY
- Biochemical diagnostic of congenital lactic acidosis (chromatography of organic acids and dosage of lactic acid)
- CHU de Nancy
- More information
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- GERMANY
- Niedersachsen
- GÖTTINGEN
- Molecular diagnosis of cytochrome c oxidase deficiency (nuclear genes: SURF1 and SCO2)
- Universitätsmedizin Göttingen
- More information
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- Molecular diagnosis of Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency (SCO2, sequencing analysis, PGD)
- Wolfson Medical Center
- More information
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- Molecular diagnosis of Leigh syndrome (COX10, SCO1, SCO2, SURF1, sequencing analysis)
- Wolfson Medical Center
- More information
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- Molecular diagnosis of Mitochondrial DNA-associated Leigh syndrome and NARP (Mutation analysis, PGD)
- Wolfson Medical Center
- More information
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- Molecular diagnosis of Mitochondrial respiratory chain complex III deficiency (BCS1L, sequencing analysis, PGD)
- Wolfson Medical Center
- More information
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- Biochemical diagnosis of respiratory chain deficiencies (complex I-V muscle enzymatic test)
- Hadassah Ein Kerem - Hebrew University Medical Center
- More information
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- UNITED KINGDOM
- Greater London
- LONDON
- Biochemical diagnosis of Leigh syndrome (Analyte: Pyruvate dehydrogenase, respiratory chain complexes II, III & IV)
- National Hospital for Neurology and Neurosurgery
- More information
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- SPAIN
- Cataluña
- ESPLUGUES DE LLOBREGAT
- Biochemical diagnosis of Leigh syndrome
- Hospital Universitari Sant Joan de Déu
- 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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- Molecular diagnosis of Leigh syndrome (SURF1, MT-ATP6, MT-ND6 genes)
- The Children's Memorial Health Institute CMHI (IP-CZD)
- 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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- SPAIN
- Madrid
- SAN SEBASTIÁN DE LOS REYES
- Molecular diagnosis of Leigh syndrome (entire coding sequence of SURF1, SCO2, COX10, COX15, DLD, PDHA1, BCS1L, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1 and SDHA genes)
- Laboratorio de Genética Clínica, S.L.
- More information
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- Molecular diagnosis of Leigh syndrome (MT-ATP6 gene / mutations T8993G and T8993C)
- Lorgen G.P.
- 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 inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
- Medizinische Universität Wien
- More information
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- SLOVAKIA
- Bratislavsky kraj
- BRATISLAVA
- Molecular diagnosis of X-linked Leigh syndrome (sequencing analysis of 11 exons of PDHA1 gene)
- University Hospital Bratislava - Stare mesto
- More information
