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115 Result(s)
Caption
: Accreditation
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Hamburg
HAMBURG
Diagnosis of NARP syndrome (MT-ATP6 gene)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

HAUTS-DE-FRANCE
LILLE
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

Sachsen
DRESDEN
Diagnosis of NARP syndrome (MTATP6 gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
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

ILE-DE-FRANCE
PARIS
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

Limburg
MAASTRICHT
Molecular diagnosis of NARP Syndrome (mtDNA)
Maastricht UMC+
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Asturias
OVIEDO
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

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

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

Bayern
MÜNCHEN
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

Bayern
MÜNCHEN
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

South Yorkshire
SHEFFIELD
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

Oxfordshire
OXFORD
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

ILE-DE-FRANCE
PARIS
Diagnosis of NARP syndrome (MTATP6 gene)
AP-HP.Sorbonne Université - Hôpital de la 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

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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of NARP syndrome
Universitair Ziekenhuis Brussel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing, PCR based techniques

Baden-Württemberg
TÜBINGEN
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

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

Merseyside
LIVERPOOL
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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of mitochondrial DNA-associated Leigh syndrome and NARP syndrome (panel of 37 genes, second tier of analysis)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Gelderland
NIJMEGEN
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)

Greater London
LONDON
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

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
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

Baden-Württemberg
TÜBINGEN
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)

Greater London
LONDON
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)

Oxfordshire
OXFORD
'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)

Oxfordshire
OXFORD
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

Hamburg
HAMBURG
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

ILE-DE-FRANCE
PARIS
Diagnosis of mitochondrial diseases (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
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)
: NGS sequencing (except WES)

NOUVELLE AQUITAINE
BORDEAUX
Diagnosis of mitochondrial diseases (exhaustive 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)

PAYS DE LA LOIRE
ANGERS
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
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)

Gelderland
NIJMEGEN
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)

Baden-Württemberg
TÜBINGEN
Diagnosis of metabolic/mitochondrial epilepsy (NGS screening panel: 100 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)

Suisse Alémanique
BERN
Diagnosis of NARP syndrome (MTATP6 gene)
Universitätsspital Inselspital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

HAINAUT
GOSSELIES
Diagnosis of NARP syndrome (MT-ATP6 gene, hot spot mutation - m.8993T>C/G)
Institut de Pathologie et de Génétique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

HAUTS-DE-FRANCE
AMIENS
Diagnosis of intellectual disability (Clinical exome)
CHU Amiens-Picardie - Site Sud
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), Whole Exome Sequencing (WES)

ILE-DE-FRANCE
PARIS
Diagnosis of intellectual disability (Whole exome)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

AUVERGNE-RHONE-ALPES
GRENOBLE
Diagnosis of mitochondrial diseases (exhaustive study of mitochondrial DNA by NGS) (Panel)
CHU Grenoble Alpes
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

PROVENCE-ALPES-COTE D'AZUR
NICE
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)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of mitochondrial DNA-associated Leigh syndrome and NARP syndrome (panel of 3 genes, first tier of analysis)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

BRETAGNE
BREST
Diagnosis of intellectual disability (Whole exome)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

ILE-DE-FRANCE
LE CHESNAY
Diagnosis of neurodevelopmental disorders and malformation syndromes (Whole exome)
CH de Versailles - Hôpital André Mignot
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

BRETAGNE
RENNES
Diagnosis of neurodevelopmental disorders (Whole exome)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

PAYS DE LA LOIRE
NANTES
Diagnosis of intellectual disability (Whole exome)
CHU de Nantes - Institut de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of mitochondrial diseases due to mitochondrial DNA mutation
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of mitochondrial disease by mitochondrial DNA deletion
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), MLPA based techniques

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of mitochondrial diseases by mitochondrial DNA mutation
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

NORMANDIE
CAEN
Diagnosis of mitochondrial diseases by nuclear gene mutation (Panel)
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
Technique(s)
: Whole Exome Sequencing (WES)

NORMANDIE
CAEN
Diagnosis of mitochondrial diseases by mitochondrial DNA mutation (Panel)
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

AUVERGNE-RHONE-ALPES
BRON
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

AUVERGNE-RHONE-ALPES
BRON
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

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

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

West Midlands
BIRMINGHAM
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

Ontario
LONDON
Molecular Diagnosis of Mitochondrial Disorder/Mt Depletion - NGS Panel (56 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)

Ontario
LONDON
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)

Ontario
HAMILTON
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)

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

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

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

Niedersachsen
OSNABRÜCK
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

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

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

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

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

Comunidad Valenciana
VALENCIA
Diagnosis of NARP syndrome (MT-ATP6 gene)
Health in Code. Valencia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

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

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

Sachsen
DRESDEN
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

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

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)

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

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

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)

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

Cataluña
BADALONA
Diagnosis of NARP syndrome (MT-ATP6 gene)
Instituto de Investigación 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

Galicia
A CORUÑA
Diagnosis of mitochondrial disease (panel)
Health In Code. A Coruña
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

Cataluña
BARCELONA
Diagnosis of mitochondrial disease (panel)
Hospital Universitari Vall d'Hebron
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Madrid
MADRID
Diagnosis of NARP syndrome (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Comunidad Valenciana
PATERNA
Diagnosis of mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies (panel)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

TOSCANA
PISA
Diagnosis of NARP syndrome (MT-ATP6 gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of rare inborn errors of metabolism (Whole exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

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

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

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

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

VENETO
VERONA
Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
Centro Airett Ricerca e Innovazione - CARI
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

CALABRIA
MANGONE
Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
CNR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

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

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

Bayern
MÜNCHEN
Diagnosis of NARP syndrome (MTATP6, MTATP8, POLG genes)
München Klinik Schwabing
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

Capital City Prague
PRAHA
Molecular and biochemical diagnosis of NARP syndrome (MT-ATP6 gene)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

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

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

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

Niedersachsen
GÖTTINGEN
Diagnosis of NARP syndrome (MTATP6 gene: position 8993)
Universitätsmedizin Göttingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

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

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

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

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

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

Nordrhein-Westfalen
BONN
Histological, histochemical, biochemical and molecular genetic diagnostics of mitochondrial diseases
Universitätsklinikum Bonn (AöR)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics, Pathology
Objective(s)
: Protein expression
Technique(s)
: Immunohistochemistry

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

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

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

NORTE
PORTO
Mental retardation, X-linked syndromic, Lubs type (gene MECP2)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: PCR based techniques, MLPA based techniques

NORTE
PORTO
Diagnosis of NARP syndrome (MTATP6 gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS