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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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of limb-girdle muscular dystrophy type 1A-C, 2A-N, 2Q (ANO5, CAPN3, CAV3, DYSF, FKRP, FKTN, LMNA, MYOT, PLEC1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32 and TTN)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of muscular dystrophy limb-girdle type 1A-C, 1E, 2A-K, 2M, 2N (CAPN3, CAV3, DES, DYSF, FKRP, FKTN, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN, POMT1 and POMT2 genes)
MVZ Fenner & Krasemann
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 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)

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Limb-Girdle Muscular Dystrophy type 2G (TCAP gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of muscular dystrophy limb-girdle type 2A-D, 2G-J, 2L, 2M, 2Q (ANO5, CAPN3, DYSF, FKRP, FKTN, PLEC, SGCA, SGCG, TCAP, TRIM32, TTN genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of limb-girdle muscular dystrophy type 2A-N, 2O, 2Q(ANO5, CAPN3, DYSF, FKRP, FKTN, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32 and TTN)
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2G (TCAP gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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)

PORTUGAL

NORTE
PORTO

Molecular diagnosis of limb-girdle muscular dystrophies, autosomal recessive forms, types 2A, 2B, 2C, 2D, 2E, 2F, 2G, 2H, 2K, 2N, 2O, 2M, 2I, 2L
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2G (TCAP gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2F, 2G, 2J, 2R (sequence analysis of the entire coding region of SGCD, TCAP, TTN, DES genes)
Azienda Ospedaliera di Padova
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

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)

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of autosomal recessive limb girdle muscolar dystrophy type 2A, 2B, 2G, 2I (calpain 3 gene)
AOU Seconda Università degli Studi di Napoli - Centro storico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
SIENA

Immunohistochemical diagnosis of muscular dystrophy limb-girdle, type 2A, 2B, 2C, 2D, 2E, 2F and 2G
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technical procedure(s) : Immunohistochemistry

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

ITALY

LOMBARDIA
MILANO

Molecular and immunological diagnosis of autosomal recessive limb-girdle muscolar dystrophy (CAPN3, DYSF, SGCG, SGCA, SGCB, FKRP, TTN, POMT1, ANO5, FKTN, POMT2, POMGNT1 genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Immunology

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of muscular dystrophy limb-girdle autosomal recessive type 2A, 2B, 2C, 2D, 2E, 2F, 2G, 2H, 2I , 2J, 2K, 2L, 2N (CAPN3, SGCA, SGCB, SGCD, SGCG, DYSF, TRIM32, POMT1, TTN, ANO5, POMT2 genes) gene)
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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 recessive limb-girdle muscular dystrophy type 2
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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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

AUSTRIA

WIEN
WIEN

Diagnosis of limb girdle muscular dystrophy due to Telethonin deficiency by western blotting for Telethonin
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technical procedure(s) : Western Blot

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