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GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of myopathies (NGS panel, 60 genes)
Universitätsklinikum Aachen
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) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Molecular diagnosis of native American myopathy (STAC3 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, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Diagnosis of congenital myopathy (Panel)
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, 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, MLPA based techniques

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of myopathy (Panel)
CHU de Strasbourg - Hôpital Civil
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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of neurogenetic and neuromuscular diseases (NGS panel - 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Diagnosis of hyperthermia (Panel)
CHU de Grenoble site Nord - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis, Risk assessment
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

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of neuromuscular junction disease (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of "nemaline-negative" congenital myopathies (Panel)
IURC - Institut Universitaire de Recherche Clinique
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)

ITALY

TOSCANA
SIENA

Histologic anc ultrastructural study of congenital myopathy
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
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