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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of myopathies associated with a rigid spine syndrome (SEPN1 gene)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of myopathies (NGS screening panel: 60 genes)
Universitätsklinikum Aachen
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)

GERMANY

Bayern
WÜRZBURG

Accreditation
Diagnosis of multiminicore myopathy (RYR1, SEPN1, TTN genes)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Diagnosis of multiminicore myopathy (RYR1 gene)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Multiminicore Disease (RYR1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of multiminicore myopathy (MYH7, RYR1, SEPN1, TTN 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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of multiminicore myopathy (RYR1 gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of multiminicore myopathy (MYH7, RYR1, TTN, SEPN1 genes)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of myopathy /muscular dystrophy (NGS screening panel, 228 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

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of core myopathies (NGS screening panel, 9 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of RYR1 gene associated myopathies (RYR1 gene: sequencing, MLPA)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
WÜRZBURG

Accreditation
Diagnosis of myopathies (NGS screening panel, 65 genes)
Universität Würzburg - Biozentrum
Purpose(s) : Antenatal diagnosis, Post-natal 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 congenital myopathy (Panel)
CHU de Grenoble et des Alpes - 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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of myopathy with joint contractures (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
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of congenital myopathy (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)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of neurogenetic and neuromuscular diseases (NGS panel, 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal 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 et des Alpes - 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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Central Core/Mini Core Disease (gene panel; NEM03v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of congenital central core myopathy (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)

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Congenital Myopathy (gene panel; NEM04v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Malignant Hyperthermia (gene panel; NEM11v17.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of muscular diseases (NGS screening panel: 102 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of myopathy and muscular dystrophy (Wide 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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of selenoprotein defects (SEPN1 gene)
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of multiminicore and congenital fiber-type disproportion myopathies (ACTA1, MYH7, RYR1, SELENON, TPM2, TPM3 genes)
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) : NGS sequencing (except WES), Sanger sequencing

SWITZERLAND

Suisse Alémanique
BASEL

Molecular diagnosis of multiminicore myopathy (SEPN1 gene)
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Diagnosis of congenital multicore myopathy with external ophthalmoplegia (RYR1 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of congenital multicore myopathy with external ophthalmoplegia (RYR1 gene / gene and recurrente mutations sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of congenital multicore myopathy (RYR1, SEPN1 genes)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of non-dystrophic myopathy (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of muscular diseases (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Galicia
A CORUÑA

Diagnosis of cardiac diseases (panel - 380 genes)
Health In Code
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)

SPAIN

Galicia
A CORUÑA

Diagnosis of neuromuscular diseases (panel - 264 genes)
Health In Code
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)

SPAIN

Galicia
A CORUÑA

Diagnosis of congenital structural muscle diseases (panel - 58 genes)
Health In Code
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)

PORTUGAL

NORTE
PORTO

Molecular diagnosis of congenital myopathy (MTM1, RYR1, SEPN1 genes)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of multiminicore myopathy on muscle biopsy
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

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

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of multiminicore myopathy (MYH7, RYR1, SEPN1, TTN genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of multiminicore myopathy (RYR1 and SEPN1 genes): analysis of the entire coding region
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

PORTUGAL

NORTE
PORTO

Molecular diagnosis of congenital multicore myopathy with external ophthalmoplegia (RYR1 gene): analysis of the entire coding region
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of multiminicore myopathy (SEPN1 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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 (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

ITALY

TOSCANA
SIENA

Molecular diagnosis of multiminicore myopathy (SEPN1 gene)
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics