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GERMANY

Bayern
WÜRZBURG

Accreditation
Molecular diagnosis of muscular dystrophy limb-girdle type 1A-C, E, 2A-G, I, J, L (ANO5, CAPN3, CAV3, DNAJB6, DYSF, FKRP, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, TCAP, TTN genes)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Limb Girdle Muscular Dystrophy (LMNA gene)
International Centre for Life
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular diagnosis of Limb-Girdle Muscular Dystrophy (LMNA, DES, CAV3, TCAP, LDB3, MYOZ2 and PLN gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of limb-girdle muscular dystrophy type 1D, E, 2A-H, L, Q (ANO5, DES, DNAJB6, DYSF, CAPN3, PLEC, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32)
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)

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of limb-girdle muscular dystrophy type 1A-F (CAV3, DES, DNAJB6, LMNA, MYOT, TNPO3 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
WÜRZBURG

Accreditation
Molecular diagnosis of myopathies by NGS panel analysis
Universität Würzburg - Biozentrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of progressive muscular dystrophy (Panel)
CHU de Marseille - Hôpital de la Timone
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)

SPAIN

La Rioja
LOGROÑO

Molecular diagnosis of limb-girdle muscular dystrophy (multigenic panel - NGS)
CIBIR - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of muscular dystrophy limb-girdle type 1D (DNAJB6 gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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

LANGUEDOC-ROUSSILLON
MONTPELLIER

Diagnosis of muscular dysrophy and myopathy (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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of distal myopathy (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

ILE-DE-FRANCE
PARIS

Diagnosis of myofibrillar myopathy (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

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of sarcoglycanopathies and limb-girdle muscular dystrophies on muscle biopsy
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of limb-girdle muscular dystrophy type 1A-D, 2A-K (analysis on muscle and nerve biopsies : histopathology, immunohistochemistry, electron microscopy)
Zentrum für Kinder- und Jugendmedizin Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technical procedure(s) : Immunohistochemistry

ISRAEL

ISRAEL
BEER YAAKOV

Molecular diagnosis of Limb girdle muscular dystrophy (DYSF , Mutation analysis, Carrier detection)
Assaf Harofeh Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal dominant limb-girdle muscular dystrophy (CAV3, LMNA, MYOT, DES, DNAJB6, HNRNPDL, TNPO3 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

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

FINLAND

Finland
TAMPERE

Molecular diagnosis of limb-girdle muscular dystrophy type 1D (DNAJB6 gene: sequencing of exon 5)
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Postnatal molecular diagnosis of limb-girdle muscular dystrophies (MYOT, LMNA, CAV3, DES, DNAJB6, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, FKRP, ANO5, FKTN genes)
IRCCS Fondazione Santa Lucia
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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing