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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA (Long-Range PCR)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of Pearson syndrome (large-scale deletions of mitochondrial DNA)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of Pearson syndrome (mtDNA)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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FINLAND

Finland
TURKU

Accreditation Molecular diagnosis of Pearson syndrome (analysis of mitochondrial DNA deletions)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of enzymatic deficiency of respiratory chain on muscular biopsy
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Pearson syndrome (mitochondrial deletions)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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NETHERLANDS

Limburg
MAASTRICHT

Accreditation Molecular diagnosis of Pearson Syndrome (mtDNA)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Molecular diagnosis of Mitochondrial disorders
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ESTONIA

Tartu
TARTU

Accreditation Diagnosis of mitochondrial disorders : quantitative organic acid analysis (GC/MS)
Centre of Clinical Genetics - Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of mitochondriopathies (mtDNA/mtRNA)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Pearson syndrome (mtDNA deletion)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation Molecular diagnosis of Mitochondrial diseases (common mtDNA point mutations, mtDNA rearrangements and depletion)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of mitochondrial diseases (search for large-scale single deletion of mitochondrial DNA by Southern and long PCR)
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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SPAIN

Cataluña
BARCELONA

Accreditation Diagnosis of Pearson syndrome
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of Pearson syndrome (mtDNA, Southern blot)
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of mitochondriopathies (mtDNA: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Mitochondrial Diseases (Analyte: Lactic Acid and Pyruvic Acid)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : NGS sequencing (except WES)

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Pearson Marrow-Pancreas Syndrome (Mitochondrial genome- targetted mutation analysis)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation 'Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)'
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : NGS sequencing (except WES)

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UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation Molecular diagnosis of Pearson Marrow-Pancreas Syndrome (Mitochondrial genome analysis: targeted mutation analysis / Testing for known mutations in family members)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of mitochondriopathies (complete sequencing of mtDNA)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of mitochondrial diseases : search for large-scale single deletion of mitochondrial DNA by Southern and long PCR (Southern Blot)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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FRANCE

GRAND-EST
REIMS

Accreditation Diagnosis of mitochondrial diseases (exhaustive study of mtDNA by NGS and Surveyor technics)
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of mitochondrial diseases (comprehensive study of mitochondrial DNA by NGS)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), PCR based techniques

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of mitochondrial disease by deletion of mitochondrial DNA
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of mitochondrial disease by mutation of mitochondrial DNA (ADNmt)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of mitochondrial diseases (Clinical exome)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Whole Exome Sequencing (WES)

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GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

Accreditation Diagnosis of Pearson syndrome
Klinikum der Stadt Ludwigshafen gGmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SWEDEN

Region Stockholm
STOCKHOLM

Accreditation Molecular diagnosis of mitochondrial diseases (mtDNA/POLG/Twinkle)
Karolinska Universitetssjukhuset - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
ULM

Accreditation Diagnosis of primary immunodeficiencies (PID) - Immunophenotyping including adhesion molecules
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

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AUSTRIA

WIEN
WIEN

Diagnosis of Pearson syndrome (various deletions of mtDNA)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

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GERMANY

Bayern
MÜNCHEN

Diagnosis of mitochondriopathies (mtRNA)
Institut für Humangenetik der TU München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Molecular diagnosis of Mitochondrial DNA Disease (Multigene Panel; 37 genes)
Wellcome Trust Centre for Mitochondrial Research
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : NGS sequencing (except WES)

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CANADA

Alberta
EDMONTON

Molecular Diagnosis of Mitochondrial Disorder (muscle mtDNA sequence analysis)
University of Alberta
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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ITALY

LOMBARDIA
MILANO

Molecular and biochemical diagnosis of metabolic encephalomyopathies (ETFDH, ETF, CPT2, MCAD, VLCAD genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LIGURIA
GENOVA

Biochemical diagnosis of beta-oxidation deficiency (metabolite analysis)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

TOSCANA
PISA

Biochemical diagnosis of mitochondrial diseases
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Pearson syndrome (mtDNA)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Biochemical diagnosis of respiratory chain defects and mitochondrial ATP synthesis
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

SARDEGNA
CAGLIARI

Biochemical diagnosis of respiratory chain multiple deficiences
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

NORTE
PORTO

Biochemical and molecular diagnosis of mitochondrial diseases
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GREECE

ATTIKI
ATHENS

Biochemical diagnosis of Pearson syndrome
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Diagnosis of Pearson syndrome (mtDNA deletion screening)
München Klinik Schwabing
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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SPAIN

Aragón
ZARAGOZA

Diagnosis of mitochondrial diseases (mitochondrial DNA)
Universidad de Zaragoza. Facultad de Veterinaria
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular diagnosis of Pearson syndrome
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular diagnosis of mitochondrial diseases, clinically undefinite
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
HEIDELBERG

Diagnosis of mitochondriopathies (lactate, pyruvate/ free fatty acids/ keton bodies/ amino acids in plasma/ organic acids/ CSF lactate/ amino acids in CSF
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of Pearson syndrome (mtDNA)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
BARCELONA

Diagnosis of mitochondrial oxidative phosphorylation disorder
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Nordrhein-Westfalen
BONN

Histological diagnosis of mitochondrial diseases
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

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UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Constitutional sideroblastic anemia (SLC25A38 gene)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

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UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Pearson syndrome
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

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BELGIUM

OOST-VLAANDEREN
GENT

Diagnosis of primary immunodeficiency due to a defect in innate immunity (cytokine production IL6, IL1beta, IL10 upon stimulation with TLR ligands)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Immunology
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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SPAIN

Cataluña
BARCELONA

Diagnosis of Pearson syndrome
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Pathology
Objective(s) : Analyte / Enzyme assay

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CANADA

Ontario
TORONTO

Biochemical Diagnosis of Mitochondrial Deficiency - Lactate/Pyruvate Ratio (fibroblasts, amniocytes, CVS)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
BARCELONA

Diagnosis of mitochondrial oxidative phosphorylation disorder
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Purpose(s) : Risk assessment
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of disorders of folate metabolism and transport and mitochondrial diseases (analyte: 5-methyltetrahydrofolate in cerebrospinal fluid)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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