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Caption : Accreditation =Accreditation
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    • FRANCE
    • ILE-DE-FRANCE
    • SAINT-OUEN-L'AUMÔNE
    • Accreditation
    • Molecular diagnosis of MERFF syndrome (MT-TK gene)
    • Laboratoire Cerba
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • SAINT-OUEN-L'AUMÔNE
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • Laboratoire Cerba
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular genetics diagnosis of NADH-CoQ reductase deficiency (NDUFS1, NDUFS2, NDUFS3, NDUFV1, NDUFV2, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7 and NDUFB3 genes)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular genetics diagnosis of Barth syndrome (TAZ gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of sensory ataxic neuropathy - dysarthria - ophthalmoparesis (C10ORF2 gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of mitochondrial myopathy and sideroblastic anemia (YARS2 gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Biochemical and molecular diagnosis of mitochondrial trifunctional protein deficiency (HADHA and HADHB genes)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Molecular diagnosis of Kearns-Sayre syndrome (mtDNA)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Biochemical diagnosis of Nadh Coq reductase deficiency
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Biochemical diagnosis of succinate coenzyme q reductase deficiency
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • 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
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene : mutation A3243G)
    • CHU de Nice - Hôpital l'Archet 2
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MT-TK gene : mutation A8344G)
    • CHU de Nice - Hôpital l'Archet 2
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Molecular diagnosis of Kearns-Sayre syndrome (MT-ATP8 gene)
    • CHU de Nice - Hôpital l'Archet 2
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Biochemical diagnosis of respiratory chain deficiencies
    • CHU de Nice - Hôpital l'Archet 2
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Accreditation
    • Biochemical diagnosis of 3-methylglutaconicaciduria
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Accreditation
    • Study of beta-oxydation on fibroblasts culture by mass spectrophotometry
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Accreditation
    • Diagnosis of enzymatic deficiency of respiratory chain on muscular biopsy
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Molecular diagnosis MELAS syndrome (mitDNA)
    • Hôpitaux Universitaires de Genève HUG
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (mitDNA)
    • Hôpitaux Universitaires de Genève HUG
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Molecular diagnosis of mitochondriopathies: deletions/duplications, point mutations of mitDNA (3243AG, 3271TC, 8356TC, 8344AG)
    • Hôpitaux Universitaires de Genève HUG
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene: 3243A/G)
    • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene: 3243A/G)
    • Labor Lademannbogen
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Kearns-Sayre syndrom
    • Labor Lademannbogen
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of progressive external ophthalmoplegia
    • Labor Lademannbogen
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Barth syndrome (TAZ gene)
    • Labor Lademannbogen
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of MNGIE syndrome (POLG, RRM2B, TYMP genes)
    • Labor Lademannbogen
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of mitochondrial DNA depletion syndrome 1-9 (C10ORF2, DGUOK, MPV17, POLG, RRM2B, SUCLA2, SUCLG1, TK2, TYMP genes)
    • Labor Lademannbogen
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of SANDO syndrome (C10ORF2, POLG genes)
    • Labor Lademannbogen
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of pyruvate dehydrogenase deficiency (DLD, DLAT, PDHA1, PDHB, PDHX genes)
    • Labor Lademannbogen
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Acyl-CoA dehydrogenase 9 deficiency (ACAD9 gene: sequencing)
    • Pränatalmedizin München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of POLG gene-associated mitochondrial diseases (sequencing, MLPA)
    • Pränatalmedizin München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of mitochondrial respiratory chain deficiency complex I (NDUFV1 gene)
    • Pränatalmedizin München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Barth syndrome (TAZ gene: sequencing)
    • Pränatalmedizin München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene: m.3243A/G)
    • Medizinisches Versorgungszentrum Humane Genetik
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Kearns-Sayre syndrome (mitochondrial deletions)
    • Medizinisches Versorgungszentrum Humane Genetik
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MTTK gene: m.8344A/G)
    • Medizinisches Versorgungszentrum Humane Genetik
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of progressive external ophthalmoplegia (mitochondrial deletions)
    • Medizinisches Versorgungszentrum Humane Genetik
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • MÖNCHENGLADBACH
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene)
    • Medizinische Versorgungszentrum Dr.Stein + Kollegen
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • MÖNCHENGLADBACH
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MTTK gene)
    • Medizinische Versorgungszentrum Dr.Stein + Kollegen
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene / mutations A3243G, T3271C, A11084G, A3252G)
    • Laboratorio de Análisis Dr. Echevarne
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MT-TL1 gene / mutation A11084G; MT-TK gene / mutation A8344G, T8356C)
    • Laboratorio de Análisis Dr. Echevarne
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Barth syndrome (TAZ gene)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (Proof of GLN12TER in the AMPD1 gene)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (mtDNA, tRNALeu gene)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (mtDNA, tRNALys gene)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Kearns-Sayre syndrome (mtDNA deletions; ANT1, C10ORF2, POLG, POLG2 genes)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of SANDO syndrome (C10ORF2, POLG genes)
    • 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
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of mitochondrial respiratory chain deficiency complex I (MTFMT, MTND1, MTND2, MTND3, MTND4, MTND4L, MTND5, MTND6, NDUFA1, NDUFA11, NDUFA8, NDUFV1, NDUFV2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8 genes)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of mitochondrial respiratory chain deficiency in complex II (SDHA and SDHAF1 genes)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of mitochondrial myopathy and sideroblastic anemia 1 and 2 (PUS1, YARS2 genes)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of Acyl-CoA dehydrogenase 9 deficiency (ACAD9 gene)
    • Medizinisch Genetisches Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA, HADHB genes)
    • Medizinisch Genetisches Zentrum München
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Molecular diagnosis of MELAS (MT-TL1 gene: 3243 & 3271 mutations)
    • St Mary's Hospital
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • Accreditation
    • Molecular diagnosis of MERRF (MT-TK gene: 8344 mutation)
    • St Mary's Hospital
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Accreditation
    • Molecular diagnosis of dominant ataxias (NGS panel for ADCK3, AFG3L2, ANO10, APTX, ATM, MRE11A, MTPAP, MTTP, PIK3R5, POLG, SACS, SETX, SIL1, SPTBN2, SYNE1, SYT14, TDP1, TTPA, ZNF592 genes: Sequencing of the entire coding region)
    • Instituto de Biologia Molecular e Celular
    • More information
    • BELGIUM
    • VLAAMS BRABANT
    • LEUVEN
    • Accreditation
    • Molecular diagnosis of Mitochondrial diabetes - MELAS syndrome (MTTL1 gene)
    • University Hospitals Leuven - Gasthuisberg
    • More information
    • BELGIUM
    • ANTWERPEN
    • ANTWERPEN-EDEGEM
    • Accreditation
    • Molecular diagnosis of PEO, SANDO, Alpers syndrome, MNGIE (POLG, C10ORF2 genes)
    • University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene: m.3243>G)
    • Liverpool Women's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MT-TK gene: m.8344A>G)
    • Liverpool Women's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Mitochondrial disorders
    • Sheffield Children's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene: m.3243A>G point mutation analysis by restriction digest and sequencing)
    • Sheffield Children's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MT-TK gene: 8344A>G point mutation analysis in the by restriction digest and sequencing)
    • Sheffield Children's NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Progressive External Ophthalmoplegia (MT-TL1 gene: m.3243A>G point mutation analysisby restriction digest and sequencing)
    • Sheffield Children's NHS Foundation Trust
    • More information
    • GERMANY
    • Bayern
    • WÜRZBURG
    • Accreditation
    • Molecular diagnosis of myoadenylate deaminase deficiency (AMPD1 gene)
    • Universität Würzburg - Biozentrum
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Molecular diagnosis of Kearns-Sayre syndrom (MTTL2 gene)
    • Mitteldeutscher Praxisverbund Humangenetik
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene)
    • Mitteldeutscher Praxisverbund Humangenetik
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MTTK gene)
    • Mitteldeutscher Praxisverbund Humangenetik
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene)
    • Zentrum für Humangenetik Mannheim
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MTTL1 gene)
    • Zentrum für Humangenetik Mannheim
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of progressive external ophthalmoplegia (MTTL1 gene)
    • Zentrum für Humangenetik Mannheim
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene: m.3243A>G, large scale rearrangement analysis and whole mitochondria genome sequencing)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MT-TK gene: m.8344A>G and whole mitochondria genome sequencing)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Kearns-Sayre syndrome (large scale rearrangement analysis and whole mitochondria genome sequencing)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Isolated NADH-CoQ reductase deficiency - Isolated mitochondrial respiratory chain complex I deficiency (by sequencing of the whole mitochondria genome)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of Barth Syndrome (TAZ gene)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of MELAS Syndrome (mtDNA)
    • AZM - Academisch Ziekenhuis Maastricht
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of MERRF Syndrome (mtDNA)
    • AZM - Academisch Ziekenhuis Maastricht
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of Kearns-Sayre Syndrome (mtDNA)
    • AZM - Academisch Ziekenhuis Maastricht
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of Progressive External Ophthalmoplegia (mtDNA, SLC25A4, POLG and PEO1 gene)
    • AZM - Academisch Ziekenhuis Maastricht
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Mitochondrial Respiratory Chain Complex I Deficiency (NDUFA1, NDUFAF2, NDUFB11, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1 and NDUFV2 gene)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Mitochondrial Respiratory Chain Complex II Deficiency (SDHA and SDHB gene)
    • Radboudumc - Radboud universitair medisch centrum
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Combined Oxidative Phosphorylation Deficiency (C10ORF2, GFM1, MRPS16, PUS1 and C12ORF65 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
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Barth Syndrome (TAZ gene)
    • AMC - Academisch Medisch Centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Mitochondrial Trifunctional Protein Deficiency (HADHA and HADHB gene)
    • AMC - Academisch Medisch Centrum
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy (TYMP gene)
    • AMC - Academisch Medisch Centrum
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Barth syndrome (TAZ gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of POLG gene-associated mitochondrial diseases
    • Praxis für Humangenetik Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of mitochondrial respiratory chain deficiency complex I (NUBPL gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene)
    • Praxis für Humangenetik Freiburg
    • More information
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • Accreditation
    • Molecular diagnosis of Barth syndrome (Tafazzin gene)
    • Southmead Hospital
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Molecular diagnosis of MELAS -Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes- syndrome (m.3243A>G in MTTL1 gene)
    • Birmingham Children's Hospital NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Molecular diagnosis of MERRF -Myoclonic Epilepsy and Ragged Red Muscle Fibers- syndrome (m.8344A>G in MTTK gene)
    • Birmingham Children's Hospital NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Accreditation
    • Molecular diagnosis of Myoadenylate Deaminase deficiency (AMPD1 gene c.34CT -p.Gln12X)
    • Birmingham Children's Hospital NHS Foundation Trust
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Molecular diagnosis of Mitochondrial diseases (common mtDNA point mutations, mtDNA rearrangements and depletion)
    • The Churchill Hospital
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Molecular diagnosis of MELAS Syndrome (MT-TL1 gene: targeted mutation / copy number analysis / Testing for known mutations in family members)
    • The Churchill Hospital
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Molecular diagnosis of Myoclonic Epilepsy Associated With Ragged-Red Fibers (MT-TK gene: targeted mutation / copy number analysis / Testing for known mutations in family members)
    • 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
    • ESTONIA
    • Tartu
    • TARTU
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene: m.3243>G)
    • Asper Biotech Ltd.
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MTTF, MTTH, MTTK, MTTL1, MTTS1, MTTS2 genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTND1, MTND5, MTND6, MTTH, MTTK, MTTL1, MTTQ, MTTS1, MTTS2 genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of progressive external ophthalmoplegia (C10ORF2, POLG, POLG2, RRM2B, SLC25A4, TK2 genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of SANDO syndrome (C10ORF2, POLG genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of mitochondrial myopathy and sideroblastic anemia (PUS1, YARS2 genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of isolated succinate-CoQ reductase deficiency (SDHAF1 gene)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of MNGIE syndrome (TYMP and POLG genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of Acyl-CoA dehydrogenase 9 deficiency (ACAD9 gene)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of myopathy with cataract and combined respiratory chain deficiency (GFER gene)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of mitochondrial respiratory chain deficiency complex I (ACAD9, FOXRED1, MTND2, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL genes)
    • Centogene AG
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA, HADHB genes)
    • Centogene AG
    • More information
    • GERMANY
    • Baden-Württemberg
    • KARLSRUHE
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene)
    • Labor PD Dr. Volkmann und Kollegen
    • More information
    • GERMANY
    • Baden-Württemberg
    • KARLSRUHE
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MTTK gene)
    • Labor PD Dr. Volkmann und Kollegen
    • More information
    • GERMANY
    • Sachsen
    • LEIPZIG
    • Accreditation
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • MVZ Labor Dr. Reising-Ackermann und Kollegen
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTND1, MTND5, MTND6, MTTH, MTTK, MTTL1, MTTQ, MTTS1, MTTS2 genes)
    • Diagenom GmbH
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MTTF, MTTH, MTTK, MTTL1, MTTS1, MTTS2 genes)
    • Diagenom GmbH
    • 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 POLG gene-associated mitochondrial diseases (sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of progressive external ophthalmoplegia (C10ORF2, POLG, POLG2, RRM2B, SLC25A4 genes: sequencing)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of lipoamide dehydrogenase deficiency (DLD gene)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of mitochondrial respiratory chain deficiency complex I (NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1 genes)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of mitochondrial respiratory chain deficiency complex II (SDHA gene)
    • CeGaT GmbH
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene: sequencing)
    • CeGaT GmbH
    • 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
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MTTF, MTTH, MTTK, MTTL1, MTTS1, MTTS2 genes)
    • MVZ Fenner & Krasemann
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTND1, MTND4, MTND5, MTTF, MTTH, MTTL1, MTTS1, MTTS2 genes)
    • MVZ Fenner & Krasemann
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • 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 respiratory chain complex II deficiency (SDHA and SDHAF1 genes)
    • Inselspital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of mitochondrial DNA depletion syndrome (DGUOK,TK2 and ECGF1 genes)
    • Inselspital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of POLG-related disorders (POLG gene)
    • Inselspital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of progressive ophtalmoplegia with mitochondrial DNA deletions, autosomal dominant 2,3 and 4 (SLC25A4,C10orf2 and POLG2 genes)
    • Inselspital
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene)
    • Inselspital
    • More information
    • GERMANY
    • Bayern
    • BAD STEBEN
    • Accreditation
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • Institut für angewandte Humangenetik und Onkogenetik
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BAD OEYNHAUSEN
    • Accreditation
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene)
    • Ruhr-Universität Bochum
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Enzyme diagnosis of mitochondrial respiratory chain deficiency (complex I-IV) in fibroblast cell culture and muscle tissue
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • More information
    • GERMANY
    • Baden-Württemberg
    • SINGEN /HTWL.
    • Accreditation
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • Institut für Laboratoriumsmedizin und Humangenetik
    • More information
    • GERMANY
    • Baden-Württemberg
    • SINGEN /HTWL.
    • Accreditation
    • Molecular diagnosis of severe congenital neutropenias (ELA2, G6PC3, HAX1, TAZ genes)
    • Institut für Laboratoriumsmedizin und Humangenetik
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Biochemical diagnosis of Fatty acid oxidation defects (Analyte: Fatty acid oxidation)
    • The Sheffield Children's Hospital
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Biochemical diagnosis of Mitochondrial trifunctional protein deficiency (Analyte: Mitochondrial trifunctional protein)
    • The Sheffield Children's Hospital
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Biochemical diagnosis of disorders of endocrine function / gluconeogenesis / fatty acid oxidation (Analyte: Free fatty acids)
    • The Sheffield Children's Hospital
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Biochemical diagnosis of Fatty acid oxidation defects (Analyte: Fatty acid oxidation)
    • The Great North Children's Hospita, Royal Victoria Infirmary
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Biochemical diagnosis of disorders of endocrine function / gluconeogenesis / fatty acid oxidation (Analyte: Free fatty acids)
    • The Great North Children's Hospita, Royal Victoria Infirmary
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Biochemical diagnosis of Mitochondrial trifunctional protein deficiency & LCHAD deficiency (Analyte: Mitochondrial trifunctional protein)
    • The Great North Children's Hospita, Royal Victoria Infirmary
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Biochemical diagnosis of NADH-CoQ reductase deficiency (Analyte: Respiratory chain complex I)
    • The Great North Children's Hospita, Royal Victoria Infirmary
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Biochemical diagnosis of Succinate CoQ reductase deficiency (Analyte: Respiratory chain complex II)
    • The Great North Children's Hospita, Royal Victoria Infirmary
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of Mitochondrial Respiratory Chain Complex I Deficiency (NUBPL gene)
    • VUmc - VU medisch centrum
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Biochemical diagnosis of Muscle Adenosine Monophosphate (AMP) Deaminase deficiency (Analyte: Myoadenylate deaminase)
    • St Thomas' Hospital
    • More information
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • Accreditation
    • Biochemical diagnosis of Barth syndrome (Analyte: cardiolipin)
    • Bristol Royal Infirmary
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • Accreditation
    • Molecular diagnosis of Barth syndrome (TAZ gene: sequencing)
    • Universitätsklinikum Münster
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Biochemical diagnosis of Mitochondrial Trifunctional Protein Deficiency (Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase and Long-Chain 3-Ketothiolase activity)
    • AMC - Academisch Medisch Centrum
    • 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 Barth Syndrome (Analyte: (Monolyso)cardiolipins)
    • AMC - Academisch Medisch Centrum
    • More information
    • CANADA
    • Ontario
    • HAMILTON
    • Accreditation
    • Molecular Diagnosis of Gamma Polymerase Deficiency (POLG exon sequencing)
    • McMaster University Medical Centre
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Molecular diagnosis of Kearns-Sayre syndrome (mtDNA)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Biochemical diagnosis of mitochondrial respiratory chain deficiency
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical and molecular diagnosis of Kearns-Sayre syndrome
    • CHU de Lyon HCL - GH Est
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical and molecular diagnosis of MERRF syndrome (MT-TK gene)
    • CHU de Lyon HCL - GH Est
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical and molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • CHU de Lyon HCL - GH Est
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical and enzyme diagnosis of mitochondrial trifunctional protein deficiency
    • CHU de Lyon HCL - GH Est
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical and molecular diagnosis of progressive external ophtalmoplegia (MT-TL1, POLG, POLG2, PEO1, SLC25A4 and RRM2B genes)
    • CHU de Lyon HCL - GH Est
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical and molecular diagnosis of MNGIE syndrome (TYMP gene)
    • CHU de Lyon HCL - GH Est
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Molecular diagnosis of mitochondrial DNA depletions (TK2, DGUOK, RRM2B, POLG genes)
    • CHU de Lyon HCL - GH Est
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Biochemical diagnosis of 3-methylglutaconic acidurias
    • CHU de Lyon HCL - GH Est
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Mmolecular diagnosis of isolated NADH-CoQ reductase deficiency (MT-ND2 gene)
    • CHU de Lyon HCL - GH Est
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Molecular diagnosis of Kearns-Sayre syndrome (DNAmt)
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • More information
    • FRANCE
    • BRETAGNE
    • BREST
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • CHRU de Brest - Hôpital Morvan
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of MELAS syndrome (MTND5 and MTTL1 genes)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of MERRF syndrome (MTTK gene)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Kearns-Sayre syndrome : search for deletions in mitochondrial DNA
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • More information
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Biochemical and molecular diagnosis of Kearns-Sayre syndrome (mitochondrial DNA)
    • CHU de Caen - Hôpital de la Côte de Nacre
    • More information
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Biochemical and molecular diagnosis of MELAS syndrome (MT-TL1, MT-ND5, MT-TF, MT-TQ, MT-TS1, MT-TS2 genes)
    • CHU de Caen - Hôpital de la Côte de Nacre
    • More information
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Biochemical and molecular diagnosis of MERRF syndrome (MT-TK and MT-TP genes)
    • CHU de Caen - Hôpital de la Côte de Nacre
    • More information
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Molecular diagnosis of maternally-inherited progressive external ophtalmoplegia (mitochondrial DNA and MT-TN gene)
    • CHU de Caen - Hôpital de la Côte de Nacre
    • More information
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency (organic acids/ GC-MS, acylcarnitines/MSMS)
    • CHU de Caen - Hôpital de la Côte de Nacre
    • More information
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Molecular genetics diagnosis of mitochondrial DNA depletion syndrome (TYMP, DGUOK gene)
    • CHU de Caen - Hôpital de la Côte de Nacre
    • More information
    • FRANCE
    • CHAMPAGNE-ARDENNE
    • REIMS
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene; NGS)
    • CHU de Reims - Hôpital Maison Blanche
    • More information
    • FRANCE
    • CHAMPAGNE-ARDENNE
    • REIMS
    • Molecular diagnosis of MERFF syndrome (MT-TK gene; NGS)
    • CHU de Reims - Hôpital Maison Blanche
    • More information
    • FRANCE
    • RHONE-ALPES
    • SAINT-PRIEST-EN-JAREZ
    • Molecular diagnosis of Barth syndrome (TAZ gene)
    • CHU de Saint-Etienne - Hôpital Nord
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Molecular diagnosis of Kearns-Sayre syndrome (mtDNA)
    • CHU d'Angers
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Biochemical diagnosis of 3-methylglutaconicaciduria
    • CHU d'Angers
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Molecular diagnosis of SANDO syndrome (POLG gene)
    • CHU d'Angers
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • CHU d'Angers
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Molecular diagnosis of MERFF syndrome (MT-TK gene)
    • CHU d'Angers
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Molecular diagnosis of succinate CoQ reductase deficiency (SDHA gene)
    • CHU d'Angers
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Molecular diagnosis of progressive external ophthalmoplegia (mitochondrial DNA)
    • CHU d'Angers
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of MELAS syndrome (mtDNA)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of MERRF syndrome (mtDNA)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical and molecular diagnosis of progressive external ophtalmoplegia (mtDNA)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical and molecular diagnosis of Kearns-Sayre syndrome (mtDNA)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of mitochondrial respiratory chain complex 1 deficiency (mtDNA and NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFA1, NDUFA2, NDUFA11, NDUFAF2, NDUFAF4, ACAD9 sequencing)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of mitochondrial respiratory chain complex 2 deficiency (SDHA, SDHAF1 genes)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Molecular diagnosis of combined oxidative phosphorylation defect (mtDNA and AIFM, PUS1 genes)
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • More information
    • ITALY
    • VENETO
    • COSTOZZA DI LONGARE
    • Molecular diagnosis of MELAS syndrome (mtDNA)
    • B.I.R.D. Foundation
    • More information
    • ITALY
    • VENETO
    • COSTOZZA DI LONGARE
    • Molecular diagnosis of MERRF syndrome (mtDNA)
    • B.I.R.D. Foundation
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of trifunctional protein deficiency (HADHB gene)
    • Policlinico Umberto I
    • More information
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency (measurement of amino acids and acylcarnitines by tandem mass spectrometry)
    • Biotecnologie Avanzate Srl
    • More information
    • SPAIN
    • Asturias
    • OVIEDO
    • Molecular diagnosis of MELAS syndrome (sequence of MT-TL1 gene)
    • Hospital Universitario Central de Asturias
    • More information
    • SPAIN
    • Asturias
    • OVIEDO
    • Molecular diagnosis of MERRF syndrome (sequence of MT-TK gene)
    • Hospital Universitario Central de Asturias
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • Laboratorio Genoma
    • More information
    • SPAIN
    • Aragón
    • ZARAGOZA
    • Molecular diagnosis of MELAS syndrome
    • Centro de Análisis Genéticos
    • More information
    • SPAIN
    • Aragón
    • ZARAGOZA
    • Molecular diagnosis of MERRF syndrome
    • Centro de Análisis Genéticos
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of MERRF syndrome (MT-TL1 gene)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1, AMPD3 genes)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • More information
    • GERMANY
    • Bayern
    • NÜRNBERG
    • Molecular diagnosis of Barth syndrome (TAZ gene)
    • Medizinisches Versorgungszentrum
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical and molecular diagnsosis of 3-methylglutaconic aciduria (AUH, OPA3, TAZ genes)
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Biochemical diagnosis of succinic acidemia
    • Ospedale Regionale per le Microcitemie
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency
    • Ospedale Regionale per le Microcitemie
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Biochemical diagnosis of succinate CoQ reductase deficiency
    • Ospedale Regionale per le Microcitemie
    • More information
    • FINLAND
    • Finland
    • TURKU
    • Molecular diagnosis of MERRF syndrome (mutation m.8344A>G)
    • Turku University Hospital
    • More information
    • FINLAND
    • Finland
    • TURKU
    • Molecular diagnosis of MELAS syndrome (mutation m.3243A>G)
    • Turku University Hospital
    • More information
    • FINLAND
    • Finland
    • TURKU
    • Molecular diagnosis of Kearns-Sayre syndrome (mitochondrial DNA deletions)
    • Turku University Hospital
    • More information
    • FINLAND
    • Finland
    • TURKU
    • Molecular diagnosis of progressive external ophthalmoplegia (analysis of mitochondrial DNA deletions)
    • Turku University Hospital
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • Medizinische Universität Wien
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of MELAS syndrome (MTTL1, MTTH, MTTL2, MTTE, MTTF, MTTV, MTTQ, MTRNR2, MTND1, MTCO3, MTND4, MTND5, MTND6, and MTCYB genes)
    • Medizinische Universität Wien
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of MERRF syndrome (MTTK, MTTH, MTTL1, and MTTF genes)
    • Medizinische Universität Wien
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Kearns-Sayre syndrome (MTTL1 and MTTL2 genes, various deletions of mitochondrial DNA)
    • Medizinische Universität Wien
    • 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 SANDO syndrome (POLG 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
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • Sistemas Genómicos S.L.
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of MELAS syndrome (MTTL1 and MTND5 genes)
    • Sistemas Genómicos S.L.
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP, POLG gene)
    • Sistemas Genómicos S.L.
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Molecular diagnosis of Barth syndrome: complete sequencing of TAZ gene
    • Universität Zürich
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Diagnosis of fatty acid oxidation defects : quantitative organic acid analysis (GC/MS)
    • Tartu University Hospital
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of MERRF syndrome (MTTK gene)
    • Praxis Dres. Gencik
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene)
    • Praxis Dres. Gencik
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • DENMARK
    • Hovedstaden
    • COPENHAGEN
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • Rigshospitalet
    • More information
    • DENMARK
    • Hovedstaden
    • COPENHAGEN
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • Rigshospitalet
    • More information
    • DENMARK
    • Hovedstaden
    • COPENHAGEN
    • Molecular diagnosis of Kearns-Sayre syndrome (deletions in mitochondrial DNA)
    • Rigshospitalet
    • More information
    • DENMARK
    • Hovedstaden
    • COPENHAGEN
    • Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene sequencing)
    • Rigshospitalet
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of MELAS syndrome (mitochondrial genome)
    • Praxis für Humangenetik
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of mitochondrial DNA depeletion syndrome (SUCLA2 and POLG genes)
    • Praxis für Humangenetik
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • Praxis für Humangenetik
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • Praxis für Humangenetik
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical diagnosis of 3-methylglutaconicaciduria
    • CHU Paris - Hôpital Necker-Enfants Malades
    • More information
    • HUNGARY
    • Dél-Dunántúl
    • PECS
    • Molecular diagnosis of progressive external ophthalmoplegia (C10ORF2 gene and mtDNA mutations)
    • Clinical Center - University of Pécs
    • More information
    • 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
    • BELGIUM
    • LIEGE
    • LIEGE
    • Biochemical diagnosis of Organic acidurias (acylcarnitines: by tandem MS in bloodspots, serum or urine & organic acids by GC/MS in urine)
    • CHU Sart Tilman - Liège
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of 3-methylglutaconic aciduria, type 1 and 2 (AUH and TAZ genes: Sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Prenatal and postnatal molecular diagnosis of trifunctional protein deficiency (HADHA: sequencing of entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MT-TL1 and MT-ND5 genes: Sequecing of the entire coding region (targeted mutation m.13513G>A))
    • CGC Genetics / Centro de Genética Clínica
    • 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
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of sensory ataxic neuropathy - dysarthria - ophthalmoparesis (POLG and C10ORF2 genes: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Pyruvate dehydrogenase E3 and E2 deficiency (DLD, DLAT genes: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Isolated succinate-CoQ reductase deficiency (SDHA gene: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Adenosine monophosphate deaminase deficiency (AMPD1 gene: sequencing of the entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of Isolated NADH-CoQ reductase deficiency (NDUFB3 gene: sequencing of the entire conding region)
    • CGC Genetics / Centro de Genética Clínica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of MELAS syndrome (MT-ND5 gene: entire coding sequence, m.13513G>A; MT-TL1 gene: entire coding sequence, A3243G, T3271C, A3252G)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • Molecular diagnosis of MERRF syndrome (MT-TK gene: A8344G, T8356C, G8363A, G8361A)
    • Centro Inmunológico de Alicante (CIALAB)
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of mitochondrial respiratory chain deficiency (BCS1L, COX10, COX15, MTCYB, SDHA, SCO1, SCO2, SDHAF1, SURF1, TMEM70 and UQCRB genes)
    • Helmholtz Zentrum München
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of NADH-CoQ reductase deficiency/Complex I-Deficiency - on request (ACAD9, ECSIT, MTND1-6, MTNDL4L, NDUFA1-2, NDUFA 4-10, NDUFA12, NDUFAF1, NDUFB3-6, NDUFB 8-9, NDUFC1-2, NDUFS1-4, XPNPEP3, 12SrRNA, 16SrRNA and mitochondrial tRNA)
    • Helmholtz Zentrum München
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of Kearns-Sayre syndrome
    • Karolinska University Hospital - Solna
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of mitochondrial diseases (mtDNA/POLG/Twinkle)
    • Karolinska University Hospital - Solna
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of MELAS syndrome
    • Karolinska University Hospital - Solna
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of MERRF syndrome
    • Karolinska University Hospital - Solna
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of progressive external ophthalmoplegia
    • Karolinska University Hospital - Solna
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular analysis of Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (TYMP gene)
    • Karolinska University Hospital - Solna
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Molecular diagnosis of MELAS syndrome
    • Genetiks - Genetic diagnosis and research center
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Molecular diagnosis of MERRF syndrome
    • Genetiks - Genetic diagnosis and research center
    • More information
    • CROATIA
    • CROATIA
    • ZAGREB
    • Molecular diagnosis of MELAS syndrome
    • Zagreb Clinical Hospital Center
    • More information
    • CROATIA
    • CROATIA
    • ZAGREB
    • Molecular diagnosis of MERRF syndrome
    • Zagreb Clinical Hospital Center
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Molecular diagnosis of SANDO syndrome (POLG1 gene)
    • Institut für Klinische Genetik Bonn
    • More information
    • SLOVENIA
    • SLOVENIA
    • LJUBLJANA
    • Molecular diagnosis of Barth syndrome (TAZ gene)
    • University Medical Centre Ljubljana
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of MERRF syndrome (MT-TK gene: mutations A8344G and T8356C)
    • Genetaq
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene: mutations A3243, A3253, C3256, T3271, T3291)
    • Genetaq
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of Kearns-Sayre syndrome (deletion detection)
    • Genetaq
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Portuguese National Neonatal Screening Program (Guthrie test)
    • Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of MELAS syndrome (MT-ND5, MT-TL1 genes)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of mitochondrial trifunctional protein deficiency (HADHB gene / entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene / mutations A3243G, C3256T, A3252G, C3093G, G3244A, T3271C and T3291C; entire coding sequence of MTND5 gene / mutations 12770A>G, 13045A>C, c. 13084A>T, 13513G>A, 13514A
    • Lorgen G.P.
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • Molecular diagnosis of MERRF syndrome (MT-TK gene / mutations A8344G, T8356C, G8363A, A8296G and G8361A)
    • Lorgen G.P.
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • Molecular diagnosis of Kearns-Sayre syndrome (deletions of MT-ATP8 genes by MLPA analysis)
    • Lorgen G.P.
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • Molecular diagnosis of progressive external ophthalmoplegia (MT-TL1 gene: search for A3243G & T3250C mutations ; MT-ND1 gene : search for G3316A mutation ; entire coding sequence of tRNA of mitDNA)
    • Lorgen G.P.
    • More information
    • UNITED KINGDOM
    • South Glamorgan
    • CARDIFF
    • Molecular diagnosis of Mitochondrial myopathy and sideroblastic anemia (PUS1 and YARS2 genes)
    • Cardiff & Vale University Health Board
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of MELAS syndrome (MT-TL1, MT-TK, MT-TS1, MT-TH genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of MERRF syndrome (MT-TK, MT-TS1, MT-TH genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of Kearns-Sayre syndrome (mtDNA deletions)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP, POLG genes)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • SPAIN
    • País Vasco
    • DERIO
    • Cribado neonatal of mitochondrial trifunctional protein deficiency (MS/MS)
    • Genetadi Biotech S.L.
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • 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 MELAS syndrome (MTND5, MTTL1 genes: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of MERRF syndrome (MTTK, MTTL1, MTND5 genes: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of SANDO syndrome (C10ORF2, POLG genes: sequencing, MLPA)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of mitochondrial respiratory chain deficiency complex II (SDHA gene: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of MNGIE syndrome (TYMP gene: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Molecular diagnosis of Barth syndrome (TAZ gene)
    • Center for Cardiovascular Genetics and Gene Diagnostics
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of maternally-inherited progressive external ophthalmoplegia (MT-TL1 gene)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of Kearns-Sayre syndrome (MT-TL1 gene / real-time PCR)
    • GenoClinics
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene / gene sequencing; exons 2 and 3 sequencing)
    • GenoClinics
    • More information
    • CANADA
    • Alberta
    • EDMONTON
    • Molecular Diagnosis of Mitochondrial Disorder MERFF, MELAS, NARP (MTTK, MTTL1, MTATP6 targeted mutation analysis)
    • University of Alberta
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of Complex 1: NADH-CoQ reductase deficiency (MT-ND1/2/3/4/5/6 genes in blood, muscle or liver tissue by sequencing)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of CPEO: chronic progressive external ophthalmoplegia (MT-TL1 gene)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of Kearns-Sayre syndrome (MT-TL1 & MT-ATP8 genes)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of MELAS syndrome (mt tRNAleucine, MT-TL1 gene)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of MERRF syndrome (mt tRNAlysine, MT-TK gene)
    • 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
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • Hospital Universitari General Vall d'Hebron
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • Hospital Universitari General Vall d'Hebron
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biochemical diagnosis of 3-methylglutaconicaciduria
    • CHU Paris - Hôpital Robert Debré
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • CHU de Bordeaux-GH Pellegrin
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • CHU de Bordeaux-GH Pellegrin
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular diagnosis of Kearns-Sayre syndrome ( large-scale deletions of mitochondrial DNA)
    • CHU de Bordeaux-GH Pellegrin
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular diagnosis of progressive external ophtalmoplegia (large-scale deletion of mitochondrial DNA)
    • CHU de Bordeaux-GH Pellegrin
    • 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
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Diagnosis of MELAS syndrome on muscle biopsy
    • GHU Henri Mondor
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Diagnosis of myopathy with sideroblastic anemia by neuro-muscular biopsy
    • GHU Henri Mondor
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Diagnosis of MELAS and MERRF syndromes (electronic microscopy on muscle or skin biopsie)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Diagnosis of myopathies (immuno-enzymology on muscle biopsy)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • More information
    • FRANCE
    • HAUTE-NORMANDIE
    • ROUEN
    • Biochemical diagnosis of 3-methylglutaconic aciduria types 1, 2, 3 and 4
    • CHU de Rouen - Hôpital Charles Nicolle
    • More information
    • FRANCE
    • HAUTE-NORMANDIE
    • ROUEN
    • Biochemical diagnosis of succinic acidemia
    • CHU de Rouen - Hôpital Charles Nicolle
    • 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
    • Molecular diagnosis of MELAS syndrome (mtDNA: MTCO3, MTND1, MTND4, MTND5, MTND6, MTTF, MTTH, MTTL1, MTTS1, MTTS2 genes)
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • More information
    • ITALY
    • TOSCANA
    • PISA
    • Molecular diagnosis of MERRF syndrome (mtDNA: MTRNR1, MTTF, MTTH, MTTK, MTTP, MTTQ, MTTS1, MTTS2 genes)
    • 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
    • PUGLIA
    • SAN GIOVANNI ROTONDO
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
    • More information
    • ITALY
    • PUGLIA
    • SAN GIOVANNI ROTONDO
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Biochemical diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (thymidine phosphorylase)
    • Università degli Studi di Siena - Presidio San Miniato
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical diagnosis of mitochondrial respiratory chain deficiency (complex I-IV)
    • Labor für molekulare Genetik und metabolische Erkrankungen
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical and molecular diagnosis of NADH-CoQ reductase deficiency
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of MERRF syndrome (MTRNR1, MTTF, MTTH, MTTK, MTTP, MTTQ, MTTS1, MTTS2 genes)
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of MELAS syndrome (MTCO3, MTND1, MTND5, MTND6, MTTH, MTTK, MTTL1, MTTQ, MTTS1, MTTS2 genes)
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of Kearns-Sayre syndrome (mtDNA deletion screening)
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of progressive external ophthalmoplegia (mtDNA deletion screening, C10ORF2, POLG, POLG2, SLC25A4)
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical and molecular diagnosis of Succinate CoQ reductase deficiency (SDHA gene)
    • 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
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of SANDO syndrome
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex II gene: SDHA)
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • More information
    • ITALY
    • LOMBARDIA
    • PAVIA
    • Molecular diagnosis of MELAS syndrome (mtDNA)
    • Fondazione IRCCS Policlinico San Matteo
    • More information
    • ITALY
    • LOMBARDIA
    • PAVIA
    • Molecular diagnosis of MERRF syndrome (mtDNA)
    • Fondazione IRCCS Policlinico San Matteo
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Molecular diagnosis of MERRF syndrome (mtDNA)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Molecular diagnosis of MELAS syndrome (mt DNA)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Molecular diagnosis of Kearns-Sayre syndrome (KSS) (MT-ATP8 gene)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Molecular diagnosis of progressive external ophtalmoplegia (PEO) (POLG1, POLg2, ANT1, TWINKLE genes)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Molecular diagnosis of sensory ataxic neuropathy - dysarthria - ophtalmoparesis (SANDO) (POLG1 gene)
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • 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 diagnosis of mitochondrial trifunctional protein deficiency
    • Centro de Diagnóstico Biomédico - CDB
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of mitochondrial respiratory chain defects
    • Centro de Diagnóstico Biomédico - CDB
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of Barth syndrome.
    • Centro de Diagnóstico Biomédico - CDB
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of Kearns-Sayre syndrome.
    • Centro de Diagnóstico Biomédico - CDB
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of MELAS syndrome.
    • Centro de Diagnóstico Biomédico - CDB
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of MERRF syndrome.
    • Centro de Diagnóstico Biomédico - CDB
    • More information
    • ITALY
    • LOMBARDIA
    • BRESCIA
    • Molecular diagnosis of MELAS syndrome (mtDNA analysis)
    • Università degli Studi di Brescia
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Molecular diagnosis of progressive external ophthalmoplegia
    • Albrecht-Kossel-Institute for Neuroregeneration (AKos)
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • BOLOGNA
    • Molecular diagnosis of POLG related diseases
    • Policlinico S. Orsola-Malpighi - Area S. Orsola
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • ITALY
    • CALABRIA
    • MANGONE
    • SPAIN
    • País Vasco
    • SAN SEBASTIÁN
    • Molecular diagnosis of MELAS syndrome (MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TF, MT-TH, MT-TK, MT-TL1, MT-TQ, MT-TS1 and MT-TS2 genes)
    • Instituto de Investigación Sanitaria Biodonostia
    • 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
    • LAZIO
    • ROMA
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of succinic acidemia
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • A.O. S. Andrea
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of MERFF syndrome (MT-TK gene)
    • A.O. S. Andrea
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Biochemical diagnosis of 3-methylglutaconic aciduria types 1, 2, 3 and 4
    • CHU de Bordeaux-GH Pellegrin
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency
    • CHU de Bordeaux-GH Pellegrin
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Diagnosis of myopathy mitochondrial cataract in magnetic resonance
    • CHU de Marseille - Hôpital de la Timone
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Diagnosis of myopathy with lactic acidosis and sideroblastic anemia in magnetic resonance
    • CHU de Marseille - Hôpital de la Timone
    • More information
    • FINLAND
    • Finland
    • TAMPERE
    • Molecular diagnosis of progressive external ophtalmoplegia, mitochondrial recessive ataxia syndrome and SANDO (POLG gene: sequencing of exons 2,3,7,13)
    • University of Tampere
    • More information
    • FINLAND
    • Finland
    • TAMPERE
    • Molecular diagnosis of progressive external ophthalmoplegia, mitochondrial recessive ataxia syndrome and Sensory ataxic neuropathy - dysarthria - ophthalmoparesis (POLG gene: sequencing of exons 2, 3, 7, 13)
    • University of Tampere
    • More information
    • SPAIN
    • Aragón
    • ZARAGOZA
    • Molecular diagnosis of Kearns-Sayre syndrome. MT-ATP8 gene.
    • Universidad de Zaragoza. Facultad de Veterinaria
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • Histologic anc ultrastructural diagnosis of mitochondrial myopathy
    • Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular and biochemical diagnosis of Kearns-Sayre syndrome. MT-ATP8 gene
    • Hospital Clínic i Provincial de Barcelona
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular and biochemical diagnosis of MELAS syndrome (MT-TL1 gene / A3243G, G3244A, A3252G, C3256T,T3271C y T3291C)
    • Hospital Clínic i Provincial de Barcelona
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular and biochemical diagnosis of MERRF syndrome (MT-TK gene / A8344G, T8356C, G8361A y G8363A)
    • Hospital Clínic i Provincial de Barcelona
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of adenosine monophosphate deaminase deficiency
    • Hospital Clínic i Provincial de Barcelona
    • More information
    • GERMANY
    • Berlin
    • BERLIN
    • Molecular diagnosis of MELAS syndrome
    • Otto-Heubner-Centrum für Kinder- und Jugendmedizin
    • More information
    • GERMANY
    • Berlin
    • BERLIN
    • Molecular diagnosis of MERRF syndrome
    • Otto-Heubner-Centrum für Kinder- und Jugendmedizin
    • More information
    • GERMANY
    • Berlin
    • BERLIN
    • Molecular diagnosis of Kearns-Sayre syndrome (mtDNA deletions)
    • Otto-Heubner-Centrum für Kinder- und Jugendmedizin
    • More information
    • GERMANY
    • Berlin
    • BERLIN
    • Molecular diagnosis of POLG gene-associated mitochondrial diseases
    • Otto-Heubner-Centrum für Kinder- und Jugendmedizin
    • 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 progressive external ophthalmoplegia
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of MELAS syndrome
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of MERRF syndrome
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of Kearns-Sayre syndrome (MT-ATP8 gene)
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of sensory ataxic neuropathy - dysarthria - ophtalmoparesis (POLG gene)
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of isolated NADH-CoQ reductase deficiency (NDUFAF2 gene)
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of AMP Deaminase Deficiency (Analyte: Adenosinemonophosphate Deaminase and Myoadenylate Deaminase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Complex I Deficiency (Analyte: NADH-Coenzyme Q Reductase)
    • Erasmus MC, Faculteitsgebouw
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Biochemical diagnosis of Complex II Deficiency (Analyte: Succinate-Coenzyme Q Reductase)
    • 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
    • HUNGARY
    • Dél-Dunántúl
    • PECS
    • Biochemical diagnosis of succinic acidemia
    • Department of Paediatrics - Clinical Center - University of Pécs
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular and biochemical diagnosis of MERRF syndrome (MT-TK gene)
    • Charles University - First faculty of medicine
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular and biochemical diagnosis of MELAS syndrome (MT-TL1 gene)
    • Charles University - First faculty of medicine
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Biochemical and molecular diagnosis of Succinate CoQ reductase deficiency (SDHA gene)
    • Charles University - First faculty of medicine
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of MNGIE syndrome (TYMP gene)
    • Charles University - First faculty of medicine
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of progressive external ophthalmoplegia (SLC25A4, POLG and C10ORF2 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
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of Barth syndrome (TAZ gene)
    • Charles University - First faculty of medicine
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Molecular diagnosis of MERRF syndrome (MTTH, MTTK, MTTL1 and MTTS1 genes)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Molecular diagnosis of MELAS syndrome (MTTL1, MTTQ genes)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Molecular diagnosis of progressive external ophthalmoplegia (mtDNA deletions, SLC25A4 gene)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Molecular diagnosis of Kearns-Sayre syndrom
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Biochemical and molecular diagnosis of mitochondrial respiratory chain deficiency complex I (NDUFV1, NDUFV2, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFAF2 genes)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Molecular diagnosis of SANDO syndrome (C10ORF2, POLG genes)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Molecular diagnosis of MNGIE syndrome (TYMP and POLG genes)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Molecular diagnosis of MERRF syndrome (MTTK gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Biochemical diagnosis of myoneurogastrointestinal encephalopathy syndrome
    • Azienda Ospedaliera Universitaria Anna Meyer
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Biochemical and molecular diagnosis of Barth syndrome (TAZ gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of progressive external ophthalmoplegia (mtDNA deletions)
    • LMU Klinikum der Universität München - Campus Großhadern
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of Kearns-Sayre syndrome (mtDNA deletions)
    • LMU Klinikum der Universität München - Campus Großhadern
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of MELAS syndrome
    • LMU Klinikum der Universität München - Campus Großhadern
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of MERRF syndrome
    • LMU Klinikum der Universität München - Campus Großhadern
    • More information
    • ITALY
    • SICILIA
    • CATANIA
    • Molecular and biochemical 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 thymidine phosphorylase deficiency (purines and pyrimidines in urine)
    • Dietmar-Hopp-Stoffwechselzentrum
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical diagnosis of mithocondrial trifunctional protein deficiency
    • Ospedale dei Bambini ''Vittore Buzzi"
    • More information
    • FRANCE
    • LORRAINE
    • VANDOEUVRE-LÈS-NANCY
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency (chromatography of acylcarnitines and organic acids)
    • CHU de Nancy - Hôpital de Brabois
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Molecular diagnosis of MERRF syndrome (MTTK gene: nt8344, 8356)
    • Universitätsmedizin Göttingen
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Molecular diagnosis of MELAS syndrome (MTTL1 gene: nt3243, 3271)
    • Universitätsmedizin Göttingen
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Molecular diagnosis of MELAS (MT-TL1, sequencing analysis, Mutation analysis)
    • Wolfson Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Molecular diagnosis of MELAS (MT -ND5, sequencing analysis)
    • Wolfson Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Molecular diagnosis of MERRF (MT-TK, Mutation analysis)
    • Wolfson Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Molecular diagnosis of MTRNR1-related hearing loss (MT-RNR1, sequencing analysis, Mutation analysis)
    • Wolfson Medical Center
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Molecular diagnosis of MTTS1-related hearing loss (MT-TS1, 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
    • ISRAEL
    • ISRAEL
    • HOLON
    • Molecular diagnosis of Progressive external ophthalmoplegia with mitochondrial DNA deletions (SLC25A4, sequencing analysis)
    • Wolfson Medical Center
    • 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 respiratory chain deficiencies (complex I-V muscle 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
    • Biochemical diagnosis of Succinate CoQ reductase deficiency (Analyte: mitochondrial respiratory chain complex 2)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Biochemical diagnosis of NADH-CoQ reductase deficiency (Analyte: Respiratory chain complex I)
    • National Hospital for Neurology and Neurosurgery
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of Kearns-Sayre syndrome
    • Hospital Universitari Sant Joan de Déu
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of Barth syndrome
    • Hospital Universitari Sant Joan de Déu
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency.
    • Hospital Universitari Sant Joan de Déu
    • 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 adenosine monophosphate deaminase deficiency (analyte: Blood Lactate and ammonia after Ischemic test)
    • Hospital Universitari Sant Joan de Déu
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Biochemical diagnosis of isolated NADH-CoQ reductase deficiency (analyte: Urine succinic acid)
    • 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
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Molecular diagnosis of Mitochondrial myopathy and sideroblastic anemia (PUS1 and YARS2 genes)
    • King's College Hospital
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical and molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
    • Vall d'Hebron Institut de Recerca VHIR
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of Kearns-Sayre syndrome (mtDNA deletions by southern blot, long PCR and quantitative PCR for several mitochondrial DNA genes)
    • Vall d'Hebron Institut de Recerca VHIR
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Molecular diagnosis of MELAS syndrome (MT-TL1, MT-ND1and MT-ND6 genes)
    • The Children's Memorial Health Institute CMHI (IP-CZD)
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Molecular diagnosis of MERRF syndrome (MT-TK gene)
    • The Children's Memorial Health Institute CMHI (IP-CZD)
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Molecular diagnosis of Barth syndrome (TAZ gene)
    • The Children's Memorial Health Institute CMHI (IP-CZD)
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • AACHEN
    • Reference Centre for neuromuscular diseases: neuropathological, molecular analysis and electronic microscopy of muscle, nerv and skin biopsies
    • Universitätsklinikum Aachen
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Molecular diagnosis of SANDO syndrome (POLG1 gene)
    • Hertie-Institut für klinische Hirnforschung (HIH)
    • More information
    • FRANCE
    • CHAMPAGNE-ARDENNE
    • REIMS
    • Biochemical diagnosis of succinic acidemia (chromatography of organic acids)
    • CHU de Reims - American Memorial Hospital
    • More information
    • FRANCE
    • CHAMPAGNE-ARDENNE
    • REIMS
    • Biochemical diagnosis of mitochondrial trifunctional protein deficiency (chromatography of organic acids)
    • CHU de Reims - American Memorial Hospital
    • More information
    • CZECH REPUBLIC
    • South Bohemia
    • CESKE BUDEJOVICE
    • Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
    • Hospital Ceské Budejovice
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of isolated NADH-CoQ reductase deficiency (entire coding sequence of NDUFV1, NDUFV2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFA2, NDUFA11, NDUFAF2, NDUFAF4, C20ORF7 and NDUFA1 genes)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of isolated succinate-CoQ reductase deficiency (entire coding sequence of SDHA and SDHAF1 genes)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of progressive external ophthalmoplegia (entire coding sequence of 22 tRNA genes of mitDNA, point mutations (A3243G, T3250C and G3316A); entire coding sequence of POLG, SLC25A4, C10ORF2 and POLG2 genes)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of Kearns-Sayre syndrome (MT-ATP8 genes by MLPA analysis)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of MELAS syndrome (entire coding sequence of MT-ND5 gene / mutations 12770A>G, 13045A>C, c.13084A>T, 13513G>A and 13514A>G; MT-TL1 gene / mutations A3243G, C3256T, A3252G, C3093G, G3244A, T3258C, T3271C and T3291C)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of MERRF syndrome (MT-TK gene / mutations A8344G, T8356C, G8363A, A8296G and G8361A)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Molecular diagnosis of sensory ataxic neuropathy - dysarthria - ophthalmoparesis (entire coding sequence of POLG gene)
    • Laboratorio de Genética Clínica, S.L.
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Biochemical and molecular diagnosis of adenosine monophosphate deaminase deficiency (AMPD1 gene)
    • Instituto de Investigación Hospital 12 de Octubre
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of MELAS syndrome (MT-TL1 gene)
    • Instituto de Investigación Hospital 12 de Octubre
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of progressive external ophthalmoplegia (MT-TL1 gene)
    • Instituto de Investigación Hospital 12 de Octubre
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of MERRF syndrome (MT-TL1 and MT-TK genes)
    • Instituto de Investigación Hospital 12 de Octubre
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of Kearns-Sayre syndrome (single large-scale mtDNA deletion, Southern-Blot)
    • Instituto de Investigación Hospital 12 de Octubre
    • More information
    • SLOVAKIA
    • Bratislavsky kraj
    • BRATISLAVA
    • Molecular diagnosis of adenosine monophosphate deaminase deficiency (34 C>T mutation in AMPD1 gene)
    • University Hospital Bratislava - Stare mesto
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE