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FRANCE

RHONE-ALPES
GRENOBLE

Accreditation Molecular diagnosis of Leigh disease (SURF1, SCO2 genes and mtDNA)
CHU de Grenoble site Nord - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Biochemical and molecular diagnosis of cytochrome c oxidase deficiency (SURF1, COX10, COX15, SCO1, SCO2 genes)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Biochemical diagnosis of Leigh disease
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of Leigh disease (MTATP6 gene: m.8993T/G and m.8993T/C)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FINLAND

Finland
TURKU

Accreditation Molecular diagnosis of Leigh disease (mutation m.8993T>G/C)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWITZERLAND

Suisse Alémanique
BERN

Accreditation Molecular diagnosis of mitochondrial diseases (Mitochondrial genom)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Limburg
MAASTRICHT

Accreditation Molecular diagnosis of Leigh Syndrome (mtDNA and SURF1 gene)
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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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular 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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Whole Exome Sequencing (WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of Leigh disease (following determination of respiratory chain enzymes in the muscle) (BCS1L, COX10, COX15, MTATP6, MTATP8, MTND1, NDUFV1, NDUFV2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SCO1, SCO2, SDHA, SURF1 genes
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

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UNITED KINGDOM

Oxfordshire
OXFORD

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

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Biochemical diagnosis of respiratory chain deficiencies
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of mitochondrial respiratory chain deficiency in complex IV (COX10, COX15, MTCO1, MTCO2, MTCO3, SCO1, SCO2, SURF1, TACO1 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Whole Exome Sequencing (WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of mitochondrial respiratory chain deficiency in complex V (MTAPT6 and MTATP8 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Biochemical diagnosis of Leigh disease (enzyme assay)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of X-linked Leigh syndrome (PDHA1 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Baden-Württemberg
TÜBINGEN

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

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of Leigh syndrome (BCS1L, COX10, COX15, DLD, ECHS1, LRPPRC, NDUFA2, NDUFAF6, SDHA, TACO1 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of mitochondrial respiratory chain deficiency complex I (NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
BERN

Accreditation Molecular diagnosis of Leigh syndrome (Surf1, BCS1L, COX10, COX15, SCO1, SCO2 genes)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Mitochondrial Diseases (Analyte: Lactic Acid and Pyruvic Acid)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Molecular diagnosis of Coenzyme Q 10 deficiency (ADCK3, APTX, COQ2, COQ9, PDSS1, PDSS2 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Leigh Syndrome, French-Canadian type (LRPPRC gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis in case of Unexplained Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Whole Exome Sequencing (WES)

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Molecular diagnosis of primary coenzyme Q10 deficiency-3 and 6 (COQ2, COQ6, PDSS2 genes: sequencing)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Molecular diagnosis of Leigh syndrome (SCO2, COQ2, PDSS2 genes)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Molecular diagnosis of Leigh disease (BCS1L, COX6B1, COX10, COX15, C8ORF38, DLD, LRPPRC, NDUFA2, NDUFA10, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PDHA1, PDSS2, SCO2, SDHA, SURF1, TACO1 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of X-linked Leigh syndrome (PDHA1 gene)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

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GERMANY

Sachsen
WEIßWASSER

Accreditation Molecular diagnosis of Coenzyme Q 10 deficiency (COQ2, COQ9, PDSS1, PDSS2 genes)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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FRANCE

BASSE-NORMANDIE
CAEN

Accreditation Molecular diagnosis of maternally-inherited Leigh syndrome (COA5, COX15, SCO2 genes)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Molecular diagnosis of Coenzyme Q 10 deficiency (COQ2, COQ9, PDSS1, PDSS2 genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Epileptic Encephalopathy (gene panel; EPI02v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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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
Technical procedure(s) : NGS sequencing (except WES)

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UNITED KINGDOM

Oxfordshire
OXFORD

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

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GERMANY

Bayern
MÜNCHEN

Accreditation Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of Coenzyme Q 10 deficiency (ADCK3, APTX, COQ2, COQ9, PDSS1, PDSS2 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Molecular diagnosis of Leigh syndrome with leukodystrophy (ECHS1 gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Molecular diagnosis of Leigh disease (MTATP6, SURF1 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

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FRANCE

ALSACE
STRASBOURG

Accreditation Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of nephrotic syndromes (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of mitochondrial diseases (Panel)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of iron-sulfur proteins disorders (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

BASSE-NORMANDIE
CAEN

Accreditation Diagnosis of mitochondrial diseases (Panel)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

BASSE-NORMANDIE
CAEN

Accreditation Diagnosis of mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies (Panel)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation Diagnosis of mitochondrial diseases (Panel)
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of Leigh syndrome (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of Leigh syndrome (COX15, LRPPRC, NDUFA2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PDHA1, PDSS2, SCO2, SDHA, SURF1 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of leukodystrophy (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of Leigh Syndrome (SURF1 gene c.312_321del10ins2 and MT-ATP6, MT-ND6 genes)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation Biochemical diagnosis of Leigh disease (Analyte: Respiratory chain complex IV)
The Great North Children's Hospita, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Québec
MONT-ROYAL, MONTRÉAL

Accreditation Molecular diagnosis of Saguenay-Lac-St. Jean cytochrome oxidase deficiency (LRPPRC gene / mutation p.354V)
PROCREA Cliniques
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Short-Chain Enoyl-CoA Hydratase Deficiency (Short-Chain Enoyl-CoA Hydratase activity)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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CANADA

Ontario
OTTAWA

Accreditation Molecular Diagnosis of Leigh Disease/Mitochondrial Encephalopathy - NGS Panel (119 genes inc COX4I1, COX7A1,TOMM20, TIMM44)
Children's Hospital of Eastern Ontario
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation Diagnosis of intellectual disability (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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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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DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of Leigh disease (SURF1 gene)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Leigh disease (MTATP6 and SURF1 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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ESTONIA

Tartu
TARTU

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

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GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of Leigh disease (BCS1L, COX10, COX15, SCO1, SCO2, SDHA and SURF1 genes)
Helmholtz Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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HUNGARY

Dél-Dunántúl
PECS

'Molecular diagnosis of mitochondriopathies (direct sequencing of MT-RNR2, MT-ND1, MT-ND2, MT-TI, MT-TL1 and MT-TM; sequencing of mtDNA regions 57-372 and 16024-16383; sequencing of the entire mtDNA)'
Clinical Center - University of Pécs
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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POLAND

Warszawa
WARSAW

Molecular diagnosis of Leigh syndrome (SURF1, MT-ATP6, MT-ND6 genes)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Leigh syndrome (MTND1, 2, 3, 4, 5, and 6, MTATP6, MTCO3, MTTW, and MTTV genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular screening for Mitochondrial Diseases (mtDNA deletion screen in blood, muscle & liver tissue by southern blot)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular diagnosis of Mitochondrial Diseases (by dHPLC analysis)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Leigh syndrome (MT-ATP6 gene / mutations T8993G and T8993C)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular diagnosis of Leigh and Leigh-like syndromes (MT-ND5, COX15, MT-TK, MT-TL1 genes by sequencing)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of mitochondrial diseases (mitochondrial genome)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CANADA

Québec
MONTRÉAL

Molecular diagnosis of French-Canadian type Cytochrome C oxidase (COX) deficiency (A354V & C1277Xdel8 mutations in LRPPRC gene by PCR + rtPCR)
Centre hospitalier universitaire Sainte-Justine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : PCR based techniques

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GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Leigh syndrome with leukodystrophy (SDHA gene: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Leigh syndrome with leukodystrophy or cardiomyopathy (SURF1 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of Leigh syndrome with nephrotic syndrome (COQ2, PDSS2 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of mitochondrial diseases (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

RHONE-ALPES
BRON

Diagnosis of fatty acid oxidation defects and differential diagnosis (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

RHONE-ALPES
BRON

Diagnosis of intellectual disability (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Diagnosis of hereditary ataxia (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of mitochondrial diseases (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

POITOU-CHARENTES
POITIERS

Diagnosis of intellectual disability (Panel ID275)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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CANADA

Alberta
CALGARY

Molecular Diagnosis of Leigh Syndrome (NDUFS4)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

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SPAIN

Madrid
MADRID

Diagnosis of epilepsy (panel)
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

AQUITAINE
BORDEAUX

Biochemical study of mitochondrial phrosphorilative oxydation deficiencies : enzymatic and polarographic studies - Mitochondrial haplotypes determination
Université Bordeaux 2 - Victor Ségalen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LOMBARDIA
MILANO

Biochemical and molecular diagnosis of Leigh disease (SURF1, PDHA1 genes)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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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
SIENA

Molecular diagnosis of Leigh disease (MT-ATP6, MT-CO2, MT-CO3, MT-ND3, MT-ND5, MT-ND6, MT-TW genes)
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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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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GERMANY

Bayern
MÜNCHEN

Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex I genes: MTND1-6, NDUFAF2, NDUFV1, NDUFV2, NDUFS1-4, NDUFS6-8)
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of mitochondrial respiratory chain deficiency (complex I-IV)
Labor für molekulare Genetik und metabolische Erkrankungen
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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GERMANY

Berlin
BERLIN

Molecular diagnosis of Leigh disease (MTATP6, SURF1 and SCO2 genes)
Otto-Heubner-Centrum für Kinder- und Jugendmedizin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(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
Technical procedure(s) : Sanger sequencing, PCR based techniques

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CZECH REPUBLIC

Capital City Prague
PRAHA

Postnatal and prenatal molecular diagnosis of Leigh disease (SURF1 gene)
Charles University - First faculty of medicine
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

Molecular diagnosis of Leigh disease (BCS1L, MTATP6, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, SDHA, SURF1 genes)
Klinikum der Stadt Ludwigshafen gGmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular diagnosis of Leigh 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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UNITED KINGDOM

Oxfordshire
OXFORD

Biochemical genetic diagnosis of Leigh disease (Analyte: Respiratory chain complexes II, III & IV)
Department of Biochemistry - University of Oxford
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Oxfordshire
OXFORD

Biochemical genetic diagnosis of Cytochrome oxidase deficiency (Analyte: Respiratory chain complex IV)
Department of Biochemistry - University of Oxford
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Baden-Württemberg
HEIDELBERG

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

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SWEDEN

Stockholms läns landsting
STOCKHOLM

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

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SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of Leigh disease
Karolinska University Hospital - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

Biochemical and molecular diagnosis of mitochondrial respiratory chain deficiency complex IV (MTCO1, MTCO2, MTCO3, COX10, COX15, MTTS1, SCO1, SCO2, SURF1 genes)
Klinikum der Stadt Ludwigshafen gGmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Niedersachsen
GÖTTINGEN

Molecular diagnosis of cytochrome c oxidase deficiency (nuclear genes: SURF1 and SCO2)
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency (SCO2, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Leigh syndrome (COX10, SCO1, SCO2, SURF1, sequencing analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial DNA-associated Leigh syndrome and NARP (Mutation analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial respiratory chain complex III deficiency (BCS1L, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
JERUSALEM

Biochemical diagnosis of respiratory chain deficiencies (complex I-V muscle enzymatic test)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Leigh syndrome (Analyte: Pyruvate dehydrogenase, respiratory chain complexes II, III & IV)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
BARCELONA

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

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Complex IV Deficiency (Analyte: Cytochrome C Oxidase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Biochemical diagnosis of Leigh syndrome
Hospital Universitari Sant Joan de Déu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
BARCELONA

Biochemical diagnosis of OXPHOS diseases
Vall d'Hebron Institut de Recerca VHIR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex II gene: SDHA)
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex III genes: BCS1L, MTCYB, UQCRB)
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex IV genes: COX10, COX15, ETHE1, LRPPRC, MTCOI-III, SCO1, SCO2, SURF1)
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Biochemical and molecular diagnosis of Leigh and Leigh-like diseases (complex V genes: ATPAF2, MTATP6, MTATP8, SLC25A3)
Klinikum Schwabing, Städt. Klinikum GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of Leigh syndrome (entire coding sequence of SURF1, SCO2, COX10, COX15, DLD, PDHA1, BCS1L, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1 and SDHA genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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GERMANY

Nordrhein-Westfalen
BONN

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

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of cytochrome C oxidase deficiency (MT-CO1, MT-CO2, MT-CO3, SURF1, SCO2, COX10, COX15, SCO1, FASTKD2 genes)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Niedersachsen
HANNOVER

Biochemical diagnosis of mitochondrial respiratory chain deficiency (enzyme assay complex I-V)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Madrid
MADRID

Biochemical diagnosis of mitochondrial oxidative phosphorylation disorder (enzymatic studies: Citrate synthase, NADH Decylubiquinone oxidoreductase, Succinate-Decylubiquinone dehydrogenase, DBH2 Cytochrome C Oxidoreductase, Cytochrome C Oxidase, NADH-Cytochrome C Reductase, Succinate-Cytochrome C Reductase)
Instituto de Investigación Hospital 12 de Octubre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of X-linked Leigh syndrome (sequencing analysis of 11 exons of PDHA1 gene)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

LORRAINE
VANDOEUVRE-LÈS-NANCY

Biochemical diagnostic of congenital lactic acidosis (chromatography of organic acids and dosage of lactic acid)
CHU de Nancy - Hôpital de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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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
Technical procedure(s) : NGS sequencing (except WES)

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CYPRUS

Cyprus
NICOSIA

Mitochondrial DNA sequencing for a single gene
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics

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CYPRUS

Cyprus
NICOSIA

Mitochondrial DNA analysis for known mutations
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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CYPRUS

Cyprus
NICOSIA

Mitochondrial southern blot for detection of multiple deletions, dublications and depletions
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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CYPRUS

Cyprus
NICOSIA

Mitochondrial DNA mutation screening.
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

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