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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Diagnosis of maternally inherited diabetes and deafness (MT-TE, MT-TK, MT-TL1 genes)
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
Technical procedure(s) : Sanger sequencing, PCR based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of maternally inherited diabetes and deafness (MTTL1 gene: m.3243A/G)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Mitochondrial diabetes - MELAS syndrome (MTTL1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of maternally inherited diabetes and deafness (MTTL1 gene)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
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

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Maternally Inherited Diabetes and Deafness (MT-TL1 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Mitochondriopathy (mtDNA; MitoChip)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of maternally inherited diabetes and deafness (MTTL1 gene)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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
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

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of maternally inherited diabetes and deafness (MTTL1 gene: 3243A/G)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
AARGAU

Accreditation
Molecular diagnosis of maternally inherited diabetes and deafness (MTTL1 gene sequencing and deletion analysis)
Kantonsspital Aargau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of maternally inherited diabetes and deafness (MTTL1 gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

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

NETHERLANDS

Gelderland
NIJMEGEN

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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Maternally inherited diabetes and deafness (MT-TL1 gene: m.3243A>G, large scale rearrangement analysis andby whole mitochondria genome sequencing)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of maternally inherited diabetes and deafness (MTTL1 gene)
Labor PD Dr. Volkmann und Kollegen
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

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

FRANCE

BASSE-NORMANDIE
CAEN

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

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Diagnosis of maternally-inherited diabetes and deafness (MT-TL, MT-TK, MT-TE genes)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Molecular diagnosis of mitochondrial disease (exhaustive study of mtDNA by NGS and Surveyor technics)
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), Sanger sequencing

GERMANY

Nordrhein-Westfalen
BAD OEYNHAUSEN

Accreditation
Molecular diagnosis of maternally inherited diabetes and deafness (MTTL1 gene)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Devon
EXETER

Accreditation
Molecular diagnosis of Maternally-Inherited Diabetes and Deafness - MIDD (MT-TL1 gene: A3243G tRNA Leucine testing and quantification)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Maternally-Inherited Diabetes and Deafness - MIDD (m.3243A>G in MTTL1 gene)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Mitochondrial Disorder - NGS Mt Genome Sequencing (37 genes)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES)

CANADA

Ontario
HAMILTON

Accreditation
Molecular Diagnosis of Mitochondrial Disorder - NGS Mt Genome Sequencing (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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of maternally inherited diabetes and deafness : study of leucine tRNA 3243AG mutation
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing, PCR based techniques

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Molecular diagnosis of maternally inherited diabetes and deafness (MT-TK, MT-TE, MT-TL1 genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, PCR based techniques

FRANCE

PAYS DE LA LOIRE
ANGERS

Molecular diagnosis of maternally inherited diabetes and deafness (analysis of mitochondrial DNA)
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of maternally inherited diabetes and deafness (MIDD) (MTTL1, MTND1, and MTATP8 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of diabetes - deafness, maternally inherited (MT-TE, MT-TK, MT-TL1 genes)
Biotecnologie Avanzate Srl
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

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of diabetes - maternally inherited deafness (MT-TL1 gene / mutation A3243G)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Molecular diagnosis of mitochondriopathies (mtRNA)
Helmholtz Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

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

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of maternally inherited diabetes and deafness (MT-TL1 gene: mutation A3243G)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Mitochondrial Disorder (muscle mtDNA sequence analysis)
University of Alberta
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics

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

FRANCE

AQUITAINE
BORDEAUX

Molecular diagnosis of maternally-inherited diabetes-deafness (MT-TL1 and MT-TE genes)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR 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 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

SPAIN

Cantabria
SANTANDER

Molecular diagnosis of maternally inherited diabetes-deafness. MT-TL1 gene
HUMV - Hospital Universitario Marqués de Valdecilla
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

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

GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

Molecular diagnosis of maternally inherited diabetes and deafness (MTTL1, MTTE, MTTK 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

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

GERMANY

Niedersachsen
GÖTTINGEN

Molecular diagnosis of cardiomyopathy, diabetes and deafness (A3243G in MTTL1)
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial cardiomyopathy (Mitochondrial DNA, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of diabetes - maternally inherited deafness (MT-TL1 gene / mutation A3243G)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BONN

Histological diagnosis of mitochondrial 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

SPAIN

Madrid
MADRID

Molecular diagnosis of maternally inherited diabetes and deafness (MT-TL1 gene)
Instituto de Investigación Hospital 12 de Octubre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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)

FINLAND

Finland
KUOPIO

Molecular diagnosis of diabetes with maternally-inherited deafness (MT-TL1 gene: 3243A>G substitution)
University of Eastern Finland
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

FRANCE

AQUITAINE
BORDEAUX

Diagnosis of mitochondrial diseases (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
Technical procedure(s) : NGS sequencing (except WES)