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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP gene)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Analyte / Enzyme assay
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
BERN

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

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

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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of MNGIE syndrome (TYMP and POLG 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)

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of PEO, SANDO, Alpers syndrome, MNGIE (POLG, C10ORF2 genes)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Pyrimidine Metabolism Disorders (Analyte: beta-, D- and L- Amino Acids, Pyrimidines and Pyrimidine Biosynthesis Intermediates)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of MNGIE Syndrome (ECGF1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of POLG gene-associated mitochondrial diseases
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

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy (TYMP gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Molecular diagnosis of mitochondrial neurogastrointestinal encephalopathy disease (TYMP gene)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Molecular diagnosis of mitochondrial DNA depletion syndrome (DGUOK,TK2 and ECGF1 genes)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of MNGIE syndrome (TYMP and POLG genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of POLG gene-associated mitochondrial diseases
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of mitochondrial DNA depletion syndrome (C10ORF2, POLG, RRM2B, SUCLA2, TK2 genes)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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)

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)

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of POLG gene-associated mitochondrial diseases
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

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

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of MNGIE syndrome (POLG, RRM2B, TYMP genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of mitochondrial DNA depletion syndrome 1-9 (C10ORF2, DGUOK, MPV17, POLG, RRM2B, SUCLA2, SUCLG1, TK2, TYMP genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of POLG gene-associated mitochondrial diseases
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Molecular diagnosis of mitochondrial disease (exhaustive study of mtDNA by NGS and Surveyor technics)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

BASSE-NORMANDIE
CAEN

Accreditation
Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP gene)
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

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)

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of metabolic liver 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)

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)

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) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Screen of Purines and Pyrimidines in urine
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Accreditation
Biochemical diagnosis of Purine and Pyrimidine disorders (Analyte: Purines/Pyrimidines)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Accreditation
Biochemical diagnosis of Pyrimidine disorders (Analyte: Pyrimidines/metabolites)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine and plasma)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy (Thymidine Phosphorylase activity)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Purine and Pyrimidine Metabolism Defects (Analyte: Purine and Pyrimidine metabolites in urine)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation
Biochemical diagnosis of Purine and pyrimidine metabolism disorders (purines and pyrimidines: HPLC, urine)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
HAMILTON

Accreditation
Molecular Diagnosis of Gamma Polymerase Deficiency (POLG exon sequencing)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

RHONE-ALPES
BRON

Biochemical and molecular diagnosis of MNGIE syndrome (TYMP gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of mitochondrial DNA depletions (TK2, DGUOK, RRM2B, POLG genes)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

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

SPAIN

Madrid
CANTOBLANCO

Biochemical diagnosis of pyrimidine metabolism disorders
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene sequencing)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of mitochondrial myopathies (MTTN, MTTS1, MTTE, MTTF, MTTL1, MTTL2, MTCO2, and MTCO3 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular diagnosis of MNGIE syndrome (TYMP & RRM2B genes)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP, POLG genes)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of POLG gene-associated mitochondrial diseases (sequencing, MLPA)
Gemeinschaftspraxis für Humangenetik
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

CANADA

Québec
SHERBROOKE

Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine by LC/UV)
CHU Sherbrooke - Hôpital Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Molecular diagnosis of mitochondrial DNA depletion syndrome, MNGIE type (TYMP, POLG, and RRM2B genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of mitochondrial DNA depeletion syndrome (SUCLA2 and POLG genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (TYMP, POLG gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of mitochondrial DNA depletion syndrome (POLG gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of MNGIE syndrome (TYMP 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

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (sequence analysis of the entire coding region of POLG gene)
Azienda Ospedaliera di Padova
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

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)

FRANCE

ALSACE
STRASBOURG

Diagnosis of myopathy (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)

FRANCE

ALSACE
STRASBOURG

Diagnosis of parkinsonian disorder (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)

FRANCE

RHONE-ALPES
BRON

Diagnosis of mitochondrial DNA maintenance syndrome (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)

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of inherited disorders of cholestasis (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)

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)

FRANCE

PAYS DE LA LOIRE
ANGERS

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)

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of POLG gene-associated mitochondrial diseases
Klinikum Stuttgart - Standort Olgahospital
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

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

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

ITALY

LIGURIA
GENOVA

Biochemical diagnosis of pyrimidine metabolism diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

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

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

GERMANY

Berlin
BERLIN

Molecular diagnosis of POLG gene-associated mitochondrial diseases
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

GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome
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

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

BULGARIA

 South-West region
SOFIA

Biochemical diagnosis of pyrimidine metabolism disorders using GCMS analysis
University hospital of Obstetrics and Gynecology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

Molecular diagnosis of MNGIE syndrome (TYMP and POLG 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

ITALY

TOSCANA
FIRENZE

Biochemical diagnosis of myoneurogastrointestinal encephalopathy syndrome
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

SICILIA
CATANIA

Molecular and biochemical diagnosis of myoneurogastrointestinal encephalopathy syndrome, MNGIE, due tothymidine phosphorylase deficiency (TYMP gene)
Università degli Studi di Catania
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

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

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

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

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

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of POLG-related disorders (POLG, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of thymidine phosphorylase deficiency (purines and pyrimidines in urine)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CZECH REPUBLIC

Capital City Prague
PRAHA

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

ITALY

TOSCANA
SIENA

Histologic anc ultrastructural diagnosis of mitochondrial myopathy
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

NETHERLANDS

Limburg
MAASTRICHT

Biochemical diagnosis of Myoneurogastrointestinal Encephalopathy Syndrome (Analyte: Thymidine Phosphorylase)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Biochemical and molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
Vall d'Hebron Institut de Recerca VHIR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

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

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

GERMANY

Niedersachsen
HANNOVER

Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CZECH REPUBLIC

South Bohemia
CESKE BUDEJOVICE

Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP gene)
Hospital Ceské Budejovice
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
SIENA

Molecular diagnosis of myoneurogastrointestinal encephalopathy syndrome (TYMP 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
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BONN

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

GERMANY

Nordrhein-Westfalen
AACHEN

Reference Centre for neuromuscular diseases: neuropathological, molecular analysis and electronic microscopy of muscle, nerv and skin biopsies
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology, Pathology
Objective(s) : Analyte / Enzyme assay

GERMANY

Nordrhein-Westfalen
BONN

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

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

ITALY

TOSCANA
SIENA

Biochemical diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (thymidine phosphorylase)
Università degli Studi di Siena - Presidio San Miniato
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of POLG related diseases
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
PISA

Molecular diagnosis of POLG related disorders
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

MARCHE
ANCONA

Biochemical diagnosis of purine or pyrimidine metabolism disorder (urinary pyrimidine and purine assay)
Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Biochemical diagnosis of purine and pyrimidine metabolism defects (analyte: purine and pyrimidine metabolites in urine)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Diagnosis of myopathies (immuno-enzymology on muscle biopsy)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Hessen
FRANKFURT AM MAIN

Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine)
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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)

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular analysis of Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (TYMP gene)
Karolinska University Hospital - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

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

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

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

SPAIN

Comunidad Valenciana
VALENCIA

Diagnostic of mitochondrial neurogastrointestinal encephalomyopathy (POLG gene)
Centro de Investigación Príncipe Felipe (CIPF)
Purpose(s) : Post-natal diagnosis, Somatic genetics
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) : Sanger sequencing, PCR based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of mitochondrial encephalomyopathic syndrome (RRM2B, FBXL4, SUCLA2, POLG, TYMP genes)
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
Technical procedure(s) : Sanger sequencing