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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of NARP syndrome (MT-ATP6 gene)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of NARP syndrome (MT-ATP6 gene)
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), PCR based techniques

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Molecular diagnosis of NARP syndrome (MT-ATP6 gene : mutation T8993G/C)
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), Sanger sequencing, PCR based techniques

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

NORMANDIE
CAEN

Accreditation Biochemical and molecular diagnosis of NARP syndrome (MT-ATP6 gene)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Molecular diagnosis of NARP syndrome
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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FINLAND

Finland
TURKU

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

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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

Sachsen
DRESDEN

Accreditation Molecular diagnosis of NARP syndrome (MTATP6 gene)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of NARP syndrome (MTATP6 gene: m.8993T/G, m.8993T/C)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

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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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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
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, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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NETHERLANDS

Limburg
MAASTRICHT

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

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SPAIN

Asturias
OVIEDO

Accreditation Diagnosis of NARP syndrome (MT-ATP6 gene / mutation 8993G)
Hospital Universitario Central de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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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 NARP syndrome (MTATP6, MTATP8 genes)
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

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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
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Molecular diagnosis of NARP/MILS syndrome (MT-ATP6 gene: m.8993T>C/G point mutation analysis by restriction digest and sequencing)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Molecular diagnosis of NARP syndrome (MTATP6 gene)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, 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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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of 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
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
Laboratoire Cerba
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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GERMANY

Hamburg
HAMBURG

Accreditation Molecular 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

ILE-DE-FRANCE
PARIS

Accreditation 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
Technique(s) : NGS sequencing (except WES)

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FRANCE

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
Technique(s) : NGS sequencing (except WES)

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FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation Diagnosis of mitochondrial DNA maintenance syndrome (Panel)
CHU d'Angers
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)

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of mitochondrial disease (exhaustive study of mtDNA by NGS and Surveyor technics)
CHU 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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

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FRANCE

GRAND-EST
REIMS

Accreditation Diagnosis of mitochondrial disease (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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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Vision 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
Technique(s) : 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)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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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
Technique(s) : Sanger sequencing

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of NARP/MILS (m.8993T>C/G & m.9176T>C/G in MTATP6, m.13513G>A in MTND5 & m.14459G>A in MTND6 genes)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation Molecular diagnosis of NARP syndrome (MT-ATP6 gene: m.8993T>G/C)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of NARP syndrome (MT-ATP6 gene: m.8993TG>C and whole mitochondria genome sequencing)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of mitochondriopathies (NGS screening panel, 396 genes)
CeGaT GmbH
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)

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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

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 Neuropathy, Ataxia, And Retinitis Pigmentosa (MT-ATP6 gene: targeted mutation / copy number 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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CANADA

Ontario
LONDON

Accreditation Molecular Diagnosis of Mitochondrial Disorder - NGS Mt Genome Sequencing (37 genes)
London Health Sciences Centre
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)

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CANADA

Ontario
LONDON

Accreditation Molecular Diagnosis of NARP (targeted mutation)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

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CANADA

Ontario
HAMILTON

Accreditation Molecular Diagnosis of Mitochondrial Disorder - Mt Genome NGS Panel (37 genes)
McMaster University Medical Centre
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)

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SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation Molecular diagnosis of NARP syndrome (MT-ATP6: m.8993T>G/C)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

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AUSTRIA

WIEN
WIEN

Diagnosis of NARP syndrome (MT-ATP6 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of NARP syndrome
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of NARP syndrome
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of NARP syndrome (MT-ATP6 gene)
B.I.R.D. Foundation
Purpose(s) : 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
Technique(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 NARP/MILS syndrome (MT-ATP6 gene)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular diagnosis of NARP syndrome (MT-ATP6 & MT-ATP8 genes in blood, muscle and liver tissue by PCR)
Universitair Ziekenhuis Brussel - UZ Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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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 - UZ Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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SPAIN

Cataluña
BARCELONA

Diagnosis of NARP syndrome (MT-ATP 6 gene)
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of mitochondriopathies (mtRNA)
Helmholtz Zentrum 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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ITALY

LAZIO
ROMA

Molecular diagnosis of NARP/MILS syndrome (MT-ATP6 gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Sachsen
DRESDEN

Molecular diagnosis of NARP syndrome (MTATP6 gene: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of NARP syndrome (MTATP6 gene: mutation T8993G)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

La Rioja
LOGROÑO

Diagnosis of NARP syndrome (MT-ATP6 gene / T8993C, T8993G mutations)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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CANADA

Alberta
EDMONTON

Molecular Diagnosis of Mitochondrial Disorder MERFF, MELAS, NARP (MTTK, MTTL1, MTATP6 targeted mutation analysis)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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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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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
Technique(s) : NGS sequencing (except WES)

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Diagnosis of mitochondrial diseases (Comprehensive study of mitochondrial DNA by NGS) (Panel)
CHU de Bordeaux-GH Pellegrin
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)

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SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of mitochondrial neuropathies (MT-ATP6, MT-ND1, MT-ND4, MT-ND6 genes)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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

LOMBARDIA
MILANO

Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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

LOMBARDIA
PAVIA

Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
Fondazione IRCCS Policlinico San Matteo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

TOSCANA
SIENA

Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
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
Technique(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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ITALY

CALABRIA
MANGONE

Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
CNR
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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GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of NARP syndrome (MTATP6, MTATP8, POLG genes)
Klinikum Schwabing, Städt. Klinikum 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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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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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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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular and biochemical diagnosis of NARP syndrome (MT-ATP6 gene)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

Molecular diagnosis of NARP syndrome (MTATP6 gene: T8993C)
Klinikum der Stadt Ludwigshafen gGmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

TOSCANA
FIRENZE

Molecular diagnosis of NARP syndrome (MTATP6 gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of NARP syndrome
LMU Klinikum der Universität München - Campus Großhadern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
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

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 Universitetssjukhuset - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of NARP syndrome
Karolinska Universitetssjukhuset - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CROATIA

CROATIA
ZAGREB

Molecular diagnosis of NARP syndrome
Zagreb Clinical Hospital Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Niedersachsen
GÖTTINGEN

Molecular diagnosis of NARP syndrome (MTATP6 gene: position 8993)
Universitätsmedizin Göttingen
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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NORWAY

Nord-Norge
TROMSØ

Molecular diagnosis of NARP syndrome (T8993G mtDNA mutation)
UNN - Universitetssykehuset Nord-Norge
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
BARCELONA

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

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SPAIN

Cataluña
BARCELONA

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

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SPAIN

Cataluña
BARCELONA

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

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ITALY

TOSCANA
PISA

Molecular diagnosis of NARP syndrome (mtDNA: MTATP6 gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of NARP syndrome (MT-ATP6 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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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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

Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
Instituto de Investigación Hospital 12 de Octubre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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

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
BADALONA

Diagnosis of NARP syndrome (MT-ATP6 gene)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
BARCELONA

Diagnosis of mitochondrial oxidative phosphorylation disorder
Hospital Clínic de Barcelona
Purpose(s) : Risk assessment
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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