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106 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
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    • 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
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Accreditation
    • Molecular diagnosis of NARP syndrome
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Diagnosis of enzymatic deficiency of respiratory chain on muscular biopsy
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Accreditation
    • Molecular diagnosis of NARP syndrome (MTATP6 gene)
    • Mitteldeutscher Praxisverbund Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Accreditation
    • Molecular diagnosis of NARP syndrome (MTATP6 gene: m.8993T/G, m.8993T/C)
    • Medizinisches Versorgungszentrum Humane Genetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of mitochondrial diseases (Mitochondrial genom)
    • Inselspital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BERN
    • Accreditation
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of NARP Syndrome (mtDNA)
    • AZM - Academisch Ziekenhuis Maastricht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of Mitochondriopathy (mtDNA; MitoChip)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Mitochondrial disorders
    • Sheffield Children's NHS Foundation Trust
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of NARP syndrome (MTATP6, MTATP8 genes) 
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of mitochondriopathies (mtDNA/mtRNA)
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • 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
    • More information
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Accreditation
    • Molecular diagnosis of Mitochondrial diseases (common mtDNA point mutations, mtDNA rearrangements and depletion)
    • The Churchill Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Molecular diagnosis of mitochondriopathies (mtDNA: sequencing)
    • CeGaT GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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
    • More information
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • 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
    • More information
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • 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)
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • 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
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • 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
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • SAINT-OUEN-L'AUMÔNE
    • 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)
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of Neuropathy, Ataxia, And Retinitis Pigmentosa (MT-ATP6 gene (2 mutations: m.8993T>C m.8993T>G): Targetted mutation analysis / testing for known mutations in family members)
    • St Mary's Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • More information
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • 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)
    • More information
    • 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)
    • The Churchill Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • More information
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • Accreditation
    • Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • 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
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • 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)
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • NICE
    • Accreditation
    • Biochemical diagnosis of Mitochondrial Diseases (Analyte: Lactic Acid, Pyruvic Acid and Ubiquinon)
    • AMC - Academisch Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Accreditation
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • CHRU de Lille - Centre de Biologie Pathologie Génétique
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Biochemical and molecular 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
    • Technical procedure(s) : PCR based techniques
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Biochemical and molecular diagnosis of NARP syndrome
    • CHU de Caen - Hôpital de la Côte de Nacre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • BASSE-NORMANDIE
    • CAEN
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • CHU d'Angers
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • 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
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • 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
    • More information
    • ITALY
    • SARDEGNA
    • CAGLIARI
    • Molecular diagnosis of NARP syndrome (mutation m.8993T>G/C)
    • Turku University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • TURKU
    • Molecular diagnosis of NARP syndrome (MTATP6 gene)
    • Medizinische Universität Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of NARP syndrome
    • Rigshospitalet
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • DENMARK
    • Hovedstaden
    • COPENHAGEN
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene / mutation 8993G)
    • Hospital Universitario Central de Asturias
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Asturias
    • OVIEDO
    • Molecular diagnosis of NARP syndrome
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • 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
    • More information
    • ESTONIA
    • Tartu
    • TARTU
    • Molecular diagnosis of mitochondrial diseases (mtDNA/POLG/Twinkle)
    • Karolinska University Hospital - Solna
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of NARP syndrome
    • Karolinska University Hospital - Solna
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Molecular diagnosis of NARP syndrome (MTATP6 gene)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of NARP syndrome
    • Zagreb Clinical Hospital Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • CROATIA
    • CROATIA
    • ZAGREB
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • B.I.R.D. Foundation
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • VENETO
    • COSTOZZA DI LONGARE
    • '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
    • More information
    • HUNGARY
    • Dél-Dunántúl
    • PECS
    • Molecular diagnosis of NARP syndrome (MT-ATP6 & MT-ATP8 genes in blood, muscle and liver tissue by PCR)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : PCR based techniques
    • More information
    • 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
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of NARP syndrome (MT-ATP 6 gene)
    • Hospital Universitari General Vall d'Hebron
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of Mitochondrial Diseases (by dHPLC analysis)
    • Universitair Ziekenhuis Brussel - UZBrussel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene / mutations T8993G and T8993C)
    • Lorgen G.P.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • Molecular diagnosis of NARP syndrome (MTATP6 gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • 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
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of mitochondriopathies (mtRNA)
    • Helmholtz Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of NARP/MILS syndrome (MT-ATP6 gene)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of NARP syndrome (MTATP6 gene: sequencing)
    • Gemeinschaftspraxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • Molecular diagnosis of mitochondrial diseases (mitochondrial genome)
    • Medizinische Universität Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of NARP syndrome (MTATP6 gene: mutation T8993G)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene / real-time PCR)
    • GenoClinics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : PCR based techniques
    • More information
    • SPAIN
    • Andalucía
    • CAMPANILLAS
    • 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
    • More information
    • CANADA
    • Alberta
    • EDMONTON
    • Molecular Diagnosis of Mitochondrial Disorder (muscle mtDNA sequence analysis)
    • University of Alberta
    • Purpose(s) : Somatic genetics
    • Specialty(ies) : Molecular genetics
    • More information
    • CANADA
    • Alberta
    • EDMONTON
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene; NGS)
    • CHU de Reims - Hôpital Maison Blanche
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • CHAMPAGNE-ARDENNE
    • REIMS
    • Molecular diagnosis of NARP syndrome
    • CHU de Bordeaux-GH Pellegrin
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • 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
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • 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
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • 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
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • PUGLIA
    • SAN GIOVANNI ROTONDO
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • Fondazione IRCCS Policlinico San Matteo
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • PAVIA
    • 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
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • 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
    • More information
    • ITALY
    • TOSCANA
    • PISA
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • CNR
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CALABRIA
    • MANGONE
    • Biochemical diagnosis of respiratory chain defects and mitochondrial ATP synthesis
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Biochemical and molecular diagnosis of mitochondrial diseases
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of NARP syndrome (MTATP6, MTATP8, POLG genes)
    • Klinikum Schwabing, Städt. Klinikum GmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of Mitocondrial Diseases, mitochondrial DNA
    • Universidad de Zaragoza. Facultad de Veterinaria
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Aragón
    • ZARAGOZA
    • 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
    • More information
    • CZECH REPUBLIC
    • Capital City Prague
    • PRAHA
    • Molecular diagnosis of NARP syndrome (MTATP6 gene: T8993C)
    • Klinikum der Stadt Ludwigshafen gGmbH
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • LUDWIGSHAFEN
    • Molecular diagnosis of NARP syndrome (MTATP6 gene)
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Molecular diagnosis of NARP syndrome
    • LMU Klinikum der Universität München - Campus Großhadern
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene)
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • 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
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Molecular diagnosis of NARP syndrome (MTATP6 gene: position 8993)
    • Universitätsmedizin Göttingen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • 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
    • More information
    • ISRAEL
    • ISRAEL
    • HOLON
    • Molecular diagnosis of NARP syndrome (T8993G mtDNA mutation)
    • UNN - Universitetssykehuset Nord-Norge
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NORWAY
    • Nord-Norge
    • TROMSØ
    • Molecular diagnosis of NARP/MILS syndrome (MT-ATP6 gene)
    • Instytut "Pomnik-Centrum Zdrowia Dziecka"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Biochemical diagnosis of NARP/MILS syndrome.
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular and biochemical diagnosis of NARP/MILS syndrome. MT-ATP6 gene
    • Hospital Clínic i Provincial de Barcelona
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • 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
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of NARP syndrome (mtDNA: MTATP6 gene)
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • TOSCANA
    • PISA
    • Molecular diagnosis of NARP syndrome (MT-ATP6 gene / mutations T8993G and T8993C)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Histological diagnosis of mitochondrial diseases
    • Universitätsklinikum Bonn
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • 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
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Molecular and biochemical diagnosis of NARP syndrome (MT-ATP6 gene / T8993G, T8993C)
    • Hospital Clínic i Provincial de Barcelona
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Biochemical diagnosis of mitochondrial oxidative phosphorylation disorder (enzymatic studies: Citrate synthase, NADH Decylubiquinone oxidoreductase, Succinate-Decylubiquinone dehydrogenase, DBH2 Cytochrome C Oxidoreductase, Cytochrome C Oxidase, NADH-Cytochrome C Reductase, Succinate-Cytochrome C Reductase)
    • Instituto de Investigación Hospital 12 de Octubre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • 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
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Biochemical diagnosis of inborn errors of metabolism (including Austrian newborn screening program for inborn errors of metabolism)
    • Allgemeines Krankenhaus der Stadt Wien
    • Purpose(s) : Newborn screening
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • 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)
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • 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
    • More information
    • 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
    • More information
    • 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
    • More information
    • 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
    • More information
    • CYPRUS
    • Cyprus
    • NICOSIA