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GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of alpha-sarcoglycanopathy (SGCA gene)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of beta-sarcoglycanopathy (SGCB gene)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of gamma-sarcoglycanopathy
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of delta-sarcoglycanopathy (SGCD gene)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of alpha-sarcoglycanopathy (SGCA gene : mutation p.Arg77Cys)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of Limb Girdle muscular dystrophy type 2C (SGCG gene)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technique(s) : Sanger sequencing

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of Muscular dystrophy limb-girdle type 1B
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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)

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Molecular diagnosis of limb girdle dystrophy type 2I (FKRP gene)
Center for Medical Genetics Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Molecular diagnosis of Limb-Girdle muscular dystrophy, type 2D, 2I, 2E, 2F, 2A, 2C (SGCA, FKRP, SGCB, SGCD, CAPN3, SGCG genes)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Limb Girdle Muscular Dystrophy, type 2A (CAPN3 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Limb Girdle Muscular Dystrophy, type 2C (SGCG gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Limb Girdle Muscular Dystrophy, type 2D (SGCA gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Limb Girdle Muscular Dystrophy, type 2E (SGCB gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Limb Girdle Muscular Dystrophy, type 2F (SGCD gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Limb Girdle Muscular Dystrophy, type 2I (FKRP gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Limb Girdle Muscular Dystrophy, type 1C (CAV3 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Limb Girdle Muscular Dystrophy (LMNA gene)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2K, 2P (DAG1, POMT1 genes: sequencing, NGS panel O-Glykosylation defects, MLPA, linkage analysis)
Universitätsklinikum Regensburg
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
REGENSBURG

Accreditation
Molecular diagnosis of congenital muscular dystrophy type 1 / limb girdle muscular dystrophy type 2I (FKRP gene: sequencing, MLPA, linkage analysis)
Universitätsklinikum Regensburg
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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Molecular diagnosis of primary calpaïnopathy (CAPN3 gene)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of Sporadic hyperCKemiaV (caveolin 3 gene)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of caveolinopathies (CAV3 gene)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of MYOT gene-associated muscular dystrophies
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of LGMD2J /Udd distal myopathy (TTN gene: NM_133378 variant N2-A)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of congenital muscular dystrophy type 1 / limb girdle muscular dystrophy type 2I (FKRP gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of epidermolysis bullosa simplex with muscular dystrophy (PLEC gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of caveolinopathies (CAV3 gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of epidermolysis bullosa simplex with muscular dystrophy (PLEC gene: sequencing)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of MYOT gene-associated muscular dystrophies
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of caveolinopathies (CAV3 gene)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(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

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of caveolinopathies (CAV3 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of limb-girdle muscular dystrophy type 2A (CAPN3 gene by MLPA and seq)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of muscular dystrophy limb-girdle type 1A-C, 2A-F, 2I (CAPN3, CAV3, DYSF, FKRP, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of delta-sarcoglycanopathy (SGCD gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of beta-sarcoglycanopathy (SGCB gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of caveolinopathies (CAV3 gene)
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, MLPA based techniques, Whole Exome Sequencing (WES)

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of caveolinopathies (CAV3 gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of limb-girdle muscular dystrophy type 1A, 2A-C (CAPN3, DYSF, MYOT, SGCG gene: sequencing)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of MYOT gene-associated muscular dystrophies
Bioscientia Institut für Medizinische Diagnostik 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
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
Technique(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
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Cardiomyopathy (gene panel)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of MYOT gene-associated muscular dystrophies
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, 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
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of muscular dystrophy limb-girdle type 1C (CAV3 gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Cardiomyopathy (gene panel; CAR01v16.1)
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
MARTINSRIED

Accreditation
Molecular diagnosis of caveolinopathies (CAV3 gene: sequencing)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(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
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of MYOT gene-associated muscular dystrophies
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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
Technique(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
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of epidermolysis bullosa simplex with muscular dystrophy (PLEC gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2A (CAPN3 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2L (ANO5 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of epidermolysis bullosa simplex with muscular dystrophy (PLEC1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of epidermolysis bullosa simplex with muscular dystrophy (PLEC gene)
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, Whole Exome Sequencing (WES)

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of muscular dystrophy limb-girdle type 2C-F (SGCA, SGCB, SGCD, SGCG genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of limb-girdle muscular dystrophy type 2A, B, U (CAPN3, DYSF, ISPD genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of epidermolysis bullosa simplex with muscular dystrophy (PLEC gene)
CeGaT GmbH
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 Limb-Girdle Muscular Dystrophy type 2I (FKRP 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
Molecular diagnosis of caveolinopathies (CAV3 gene)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of basal epidermolysis bullosa simplex (ITGB4, KRT5, KRT14, PLEC genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(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
Technique(s) : NGS sequencing (except WES)

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

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of intellectual disability (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
Technique(s) : NGS sequencing (except WES)

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of cerebral malformations (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
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of cardiomyopathy (Panel)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
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), Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of laminopathies (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
Technique(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
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of autosomal recessive limb-girdle muscular dystrophy (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), Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of MYOT gene-associated muscular dystrophies
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of muscular dystrophy limb-girdle type 1A-C, 2A-H, 2J, 2L (ANO5, CAPN3, CAV3, DYSF, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of autosomal dominant limb-girdle muscular dystrophy (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
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)

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency (PLEC gene, exons 31 and 32)
Medizinische Universität Innsbruck
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), Sanger sequencing

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of Limb-girdle muscular dystrophy due to FKRP deficiency (FKRP gene, exon 4)
Medizinische Universität Innsbruck
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), Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Cardiomyopathy (gene panel)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Limb-Girdle Muscular Dystrophy (gene panel)
AMC - Academisch Medisch Centrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

Devon
EXETER

Accreditation
Molecular diagnosis of Autosomal Dominant Limb-Girdle Muscular Dystrophy, type 1B (LMNA gene)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of LGMD2B by analyzing dysferlin (Western-Blot)
CHU Paris Centre - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of laminopathies (LMNA gene)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LAZIO
ROMA

Molecular diagnosis of muscular dystrophy limb-girdle autosomal dominant type 1C (CAV3 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy types 1A, 1B and 1C (MYOT, LMNA and CAV3 genes)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Immunological diagnosis of autosomal recessive type 2I limb girdle muscular dystrophy : study of alphadystroglycan protein on muscular biopsy
CHU Paris Centre - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

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

ITALY

LAZIO
ROMA

Molecular diagnosis of caveolinopathies (CAV 3 gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle muscular dystrophy type 2J (TTN gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle dystrophy type 2I (FKRP gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle dystrophy type 2B (DYSF gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle dystrophy type 2D (SGCA gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
FERRARA

Molecular diagnosis of muscular dystrophy limb girdle autosomal recessive type 2A, 2B, 2I (CAPN3, FKRP, DYSF genes)
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

EMILIA ROMAGNA
FERRARA

Molecular diagnosis of muscular dystrophy limb-girdle autosomal dominant type 1 C (CAV3 gene)
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of muscular dystrophy limb girdle autosomal recessive type 2I (FKRP gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of muscular dystrophy limb-girdle autosomal dominant with cardiac involvement type 1B, chromosome 1-linked (LMNA gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of muscular dystrophy limb-girdle type 2A (CAPN3 gene)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of muscular dystrophy limb-girdle type 2I (FKRP gene: L276I mutation and complete sequencing)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

DENMARK

Jylland
AARHUS

Molecular diagnosis of limb girdle dystrophy type 2I
Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of limb-girdle muscular dystrophy type 1A-C, 2A-F, 2I-L (ANO5, CAPN3, CAV3, DYSF, FKRP, LMNA, MYOT, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG and TTN)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
BARCELONA

Diagnosis of the autosomal dominant limb-girdle muscular dystrophy, type 1F (TNPO3 gene)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Biochemical diagnosis of progressive myopathies on muscle biopsy (dystrophin, alpha-sarcoglycan, gamma-sarcoglycan and calpain 3 by multiplex Western-Blot; alpha-dystroglycan by simplex Western-Blot)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

SPAIN

Andalucía
MÁLAGA

Diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1B (LMNA gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1A (MYOT gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle muscular dystrophy type 2K (POMT1 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle muscular dystrophy type 2A (CAPN3 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Diagnosis of autosomal recessive limb-girdle muscular dystrophy, type 2I and congenital muscular dystrophies due to dystroglycanopathy (FKRP gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of limb-girdle muscular dystrophy type 1B (LMNA gene: analysis of the entire coding region - sequence analysis)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

POLAND

Poznan
POZNAN

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1A (MYOT gene: exon 2)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1B (entire coding sequence of LMNA gene)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

PORTUGAL

NORTE
PORTO

Molecular diagnosis autosomal dominant limb-girdle muscular dystrophy types 1A, 1B, 1C (MYOT, LMNA and CAV3 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

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of caveolinopathies (CAV3 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of delta-sarcoglycanopathy (SGCD gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Andalucía
SEVILLA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2A and 2I (CAPN3 and FKRP genes)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
SEVILLA

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1C (CAV3 gene)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb girdle muscular dystrophy type 2A (CAPN3 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2E (SGCB gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2B, 2C, 2D, 2E, 2I and 2L (DYSF, SGCG, SGCA, SGCB, FKRP and ANO5 genes)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb girdle muscular dystrophy type 2A (CAPN3 gene / complete sequencing)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

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

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2B (DYSF gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2C (SGCG gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

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

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2E (SGCB gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1A (MYOT gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2F (SGCD gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1C (CAV3 gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2J (TTN gene / exons 18, 186, 308, 342, 356 and 363)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of muscular dystrophy limb-girdle type 1B, 1C, 2A, B, I, L (ANO5, CAPN3, CAV3, DYSF, FKRP, LMNA)
Gemeinschaftspraxis für Humangenetik
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

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of autosomal recessive limb girdle muscular dystrophy type 2A (CAPN3 gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle dystrophy type 2C (SGCG gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle dystrophy type 1A (MYOT gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle muscular dystrophy 1C (CAV3 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle muscular dystrophy 2L (ANO5 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle muscular dystrophy 2M (FKTN gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2B (DYSF gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb-girdle muscular dystrophy type 1E (DES gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2D (SGCA gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Limb-girdle muscular dystrophy (TCAP, FKTN, POMGNT1, MYOT, LMNA, CAV3, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, FKRP, POMT1, ANO5, and POMT2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

POLAND

Warszawa
WARSAW

Molecular diagnosis of autosomal recessive limb girdle muscular dystrophy type 2A (CAPN3 gene: c.550delA and R490Q)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2J (TTN gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2L (ANO5 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Caveolinopathies (CAV3 gene: analysis of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

La Rioja
LOGROÑO

Diagnosis of limb-girdle muscular dystrophy (gene panel)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2B (DYSF gene / MLPA)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1A (MYOT gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of autosomal recessive limb girdle muscular dystrophy type 2A and 2C (CAPN3 and SGCG genes: sequencing of the entire coding region for CAPN3 gene and p.Cys283Tyr mutation analysis on SGCG gene))
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

CANADA

Alberta
CALGARY

Molecular Diagnosis of Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I (FKRP)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

CANADA

Alberta
CALGARY

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Type 2H (TRIM32)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1C (CAV3 gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1B (LMNA gene / complete sequencing)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2L (ANO5 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of congenital muscular alpha-dystroglycanopathy (ANO5, B3GALNT2, B4GAT1, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, TMEM5 genes)
Institut für Humangenetik am Universitätsklinikum Köln
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
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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of autosomal recessive limb-girdle muscular dystrophy (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1B and 1C (sequence analysis of the entire coding region of LMNA and CAV3 genes)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of caveolinopathies (CAV3 gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of limb-girdle muscular dystrophy type 2A (CAPN3 gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of LGMD (CAPN3, SGSG and FKRP)
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of limb-girdle muscular dystrophy (Panel)
CHU Paris Centre - Hôpital Cochin
Purpose(s) : Antenatal diagnosis, 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, PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of glycosylation disorders (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
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)

FRANCE

ILE-DE-FRANCE
PARIS

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)

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
Technique(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
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1C (CAV3 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of congenital heart diseases (panel)
DNA Data
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
BRON

Diagnosis of limb-girdle muscular dystrophy (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of limb-girdle muscular dystrophy (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)

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)

FRANCE

BRETAGNE
BREST

Diagnosis of intellectual disability (Panel)
CHRU de Brest - Hôpital Morvan
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

CAMPANIA
NAPOLI

Molecular diagnosis of alpha, beta, gamma and delta-sarcoglycanopathy
AOU Seconda Università degli Studi di Napoli - Centro storico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

CAMPANIA
NAPOLI

Molecular diagnosis of muscular dystrophy limb-girdle autosomal dominant type 1B, 1C
AOU Seconda Università degli Studi di Napoli - Centro storico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
REGENSBURG

Molecular diagnosis of muscular dystrophy limb-girdle type 2K
Klinik und Poliklinik für Neurologie der Universität Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of muscular dystrophy limb girdle type 2A (CAPN3 gene)
Instituto de Investigación Sanitaria Biodonostia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FINLAND

Finland
UNIVERSITY OF TAMPERE

Immunohistochemical and Western blot analysis of caveolin 3
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry, Western Blot

FINLAND

Finland
UNIVERSITY OF TAMPERE

Immunohistochemical and Western blot analysis of dysferlin
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry, Western Blot

FINLAND

Finland
UNIVERSITY OF TAMPERE

Molecular diagnosis of limb girdle muscular dystrophy 2I and congenital muscular dystrophy 1C by sequencing of FKRP gene
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
UNIVERSITY OF TAMPERE

Molecular diagnosis of limb-girdle muscular dystrophy type 2D (SGCA gene: exon 3 sequencing, complete sequencing if needed)
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FINLAND

Finland
UNIVERSITY OF TAMPERE

Immunohistochemical and Western blot analysis of beta-sarcoglycan
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry, Western Blot

FINLAND

Finland
UNIVERSITY OF TAMPERE

Immunohistochemical and Western blot analysis of gamma-sarcoglycan
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry, Western Blot

FINLAND

Finland
UNIVERSITY OF TAMPERE

Immunohistochemical and Western blot analysis of delta-sarcoglycan
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry, Western Blot

FINLAND

Finland
UNIVERSITY OF TAMPERE

FINLAND

Finland
UNIVERSITY OF TAMPERE

Molecular diagnosis of calpainopathy (CAPN3 gene: sequencing of exons 1,4,5,8,10,11,13,15,20 and 21)
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
REGENSBURG

Molecular diagnosis of congenital muscular dystrophy type 1 / limb girdle muscular dystrophy type 2I (FKRP gene)
Klinik und Poliklinik für Neurologie der Universität Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Calpainopathy by western blotting for Calpain-3
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

AUSTRIA

WIEN
WIEN

Diagnosis of limb girdle dystrophy due to caveolin-3 deficiency by western blotting for Caveolin-3
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

AUSTRIA

WIEN
WIEN

Diagnosis of alpha-sarcoglycanopathy by western blotting for alpha-sarcoglycan
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

AUSTRIA

WIEN
WIEN

Diagnosis of beta-sarcoglycanopathy by western blotting for beta-sarcoglycan
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

AUSTRIA

WIEN
WIEN

Diagnosis of delta-sarcoglycanopathy by western blotting for delta-sarkoglycan
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

AUSTRIA

WIEN
WIEN

Diagnosis of gamma-sarcoglycanopathy by western blotting for gamma-sarcoglycan
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

AUSTRIA

WIEN
WIEN

Diagnosis of Emery-Dreifuss muscular dystrophy by western blotting for Emerin and Lamin A/C
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of muscular dystrophy limb-girdle autosomal dominant type 1C (CAV3 gene)
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
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
Technique(s) : Immunohistochemistry

ITALY

VENETO
PADOVA

Biochemical and immunological diagnosis of muscular dystrophy limb girdle muscolar dystrophy type 2A (CAPN3 gene)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Immunology
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Molecular diagnosis of muscular dystrophy limb-girdle type 1B
Analysezentrum III
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
HEIDELBERG

Molecular diagnosis of delta-sarcoglycanopathy (LGMD 2F)
Analysezentrum III
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

VENETO
PADOVA

Molecular diagnosis of lamin A/C deficit (LMNA gene)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Immunohistochemical and molecular diagnosis of caveolinopathies (CAV3 gene)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

ITALY

VENETO
PADOVA

Immunohistochemcal diagnosis of sarcoglycanopathies (SGCA, SGCB, SGCD, SGCG genes)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(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

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of epidermolysis bullosa simplex with limb girdle dystrophy on muscle biopsy
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

MOROCCO

Rabat
RABAT

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2C (SGCG gene / 525 delT mutation)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

South Moravia
BRNO

Molecular prenatal and postnatal diagnosis of muscular dystrophy limb-girdle type 2A (CAPN3 gene)
University hospital Brno
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Molecular diagnosis of muscular dystrophy, limb girdle, type 2I (FKRP gene)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of muscular dytrophy, autosomal dominant, type 1B (LMNA gene)
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technique(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

LOMBARDIA
MILANO

Molecular and immunological diagnosis of autosomal dominant limb-girdle muscular dystrophy, limb-girdle type 1A, 1B, 1C (CAV3, LMNA, MYOT genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Immunology

BULGARIA

 South-West region
SOFIA

Molecular diagnosis of muscular dystrophy limb-girdle type 2A, 2C, 1B, 1C
GENICA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of muscular dystrophy limb-girdle autosomal dominant type 1A, 1C (MYOT and CAV3 genes)
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CROATIA

CROATIA
ZAGREB

CROATIA

CROATIA
ZAGREB

Linkage analysis of Limb Girdle muscular dystrophy type 2B
Zagreb University Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CROATIA

CROATIA
ZAGREB

Linkage analysis of Limb Girdle muscular dystrophy type 2C
Zagreb University Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CROATIA

CROATIA
ZAGREB

Linkage analysis of limb girdle muscular dystrophy type 2D
Zagreb University Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CROATIA

CROATIA
ZAGREB

Linkage analysis of limb girdle muscular dystrophy type 2I and search for L276I mutation (FKRP gene)
Zagreb University Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Dysferlin deficiency (DYS, Mutation analysis, Carrier detection)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
RAMAT GAN

Molecular diagnosis of Limb-Girdle Muscular Dystrophy (DYSF, Mutation analysis, Carrier detection)
Sheba Medical Center
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

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Dysferlinopathy (DYSF, Mutation analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Limb girdle muscular dystrophy (LGMD-2B)) (Dysferlin, Mutation analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Immunohistochemical and molecular diagnosis of limb-girdle muscular dystrophy, type 2B, type Miyoshi (DYSF gene)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of limb-girdle type of muscular dystrophy by analysing calpain on muscular biopsy (Western-Blot)
Institut de Recherches en Biothérapie (IRB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of alpha- and gamma-sarcoglycanopathies on muscle biopsy (multiplex Western-Blot)
Institut de Recherches en Biothérapie (IRB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of dysferlinopathies on muscle biopsy (multiplex Western-Blot)
Institut de Recherches en Biothérapie (IRB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Western Blot

SPAIN

Madrid
MADRID

Diagnosis of congenital muscular dystrophy due to dystroglycanopathyand limb-girdle muscular dystrophy type 2K (gene panel)
Universidad Autónoma de Madrid. Facultad de Medicina
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FINLAND

Finland
UNIVERSITY OF TAMPERE

Molecular diagnosis of limb girdle muscular dystrophy type 1A and myotilinopathy (MYOT gene : exon 2 sequencing)
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
SIENA

Immunohistochemical diagnosis of muscular dystrophy limb-girdle autosomal dominant type1C
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

POLAND

Warszawa
WARSAW

Molecular and immunohistochemical diagnosis of autosomal dominant limb-girdle muscular dystrophy, type 1B (LMNA gene)
Mossakowski Medical Research Centre - Polish Academy of Sciances
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

POLAND

Warszawa
WARSAW

Immunohistochemical diagnosis of autosomal recessive limb-girdle muscular dystrophy, type 2B
Mossakowski Medical Research Centre - Polish Academy of Sciances
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

POLAND

Warszawa
WARSAW

Immunohistochemical diagnosis of autosomal recessive limb-girdle muscular dystrophy, type 2C
Mossakowski Medical Research Centre - Polish Academy of Sciances
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

POLAND

Warszawa
WARSAW

Immunohistochemical diagnosis of autosomal recessive limb-girdle muscular dystrophy, type 2D
Mossakowski Medical Research Centre - Polish Academy of Sciances
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

POLAND

Warszawa
WARSAW

Immunohistochemical diagnosis of autosomal recessive limb-girdle muscular dystrophy, type 2E
Mossakowski Medical Research Centre - Polish Academy of Sciances
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

ITALY

CALABRIA
MANGONE

Molecular diagnosis of limb-girdle muscular dystrophy type 1C and 2A (CAV3 and CAPN3 genes)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
UNIVERSITY OF TAMPERE

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2L and Miyoshi myopathy (ANO5 gene: sequencing of exons 5 and 20, complete sequencing if needed)
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

FINLAND

Finland
UNIVERSITY OF TAMPERE

Molecular diagnosis of TRIM32-related diseases (sequencing of exon 2)
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of basal epidermolysis bullosa simplex (COL7A1, KRT5, KRT14, PLEC genes)
Laboratorio de Genética Clínica, S.L.
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) : Sanger sequencing

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
Technique(s) : Sanger sequencing

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
Technique(s) : Sanger sequencing, MLPA based techniques

POLAND

Gdansk
GDANSK

Molecular diagnosis of autosomal recessive limb girdle muscular dystrophy type 2A (search for c.550delA mutation in CAPN3 gene)
Uniwersyteckie Centrum Kliniczne
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
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

ITALY

TOSCANA
PISA

Molecular diagnosis of CAV3 related disorders
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
SIENA

Immunohistochemical diagnosis of autosomal recessive limb girdle muscular dystrophy type 2A
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

FINLAND

Finland
UNIVERSITY OF TAMPERE

Molecular diagnosis of limb-girdle muscular dystrophy type 1C (CAV3 gene: sequencing of the coding region)
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
UNIVERSITY OF 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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1C (CAV3 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1B (LMNA gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of limb girdle muscular dystrophy types 2A, 2I, and 2M (CAPN3, FKRP, and FKTN genes)
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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
Technique(s) : Western Blot

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1F (TNPO3 gene)
Vall d'Hebron Institut de Recerca VHIR
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

LAZIO
ROMA

Molecular diagnosis of dysferlinopathies. (DYSF gene)
IRCCS Fondazione Santa Lucia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of laminopathies (LMNA gene)
IRCCS Fondazione Santa Lucia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2I (FKRP gene)
Instituto de Investigación Sanitaria Biodonostia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

TOSCANA
SIENA

Molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2A and 2B (CAPN3 and DYSF genes)
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing