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FRANCE

ILE-DE-FRANCE
PARIS

Diagnostic des laminopathies (gène LMNA)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Emery-Dreifuss muscular distrophy by study of emerin (Western-Blot on lymphoblasts)
AP-HP.Centre - Université de Paris - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Service(s) : Protein expression western blot

More information

Accreditation
GERMANY

Nordrhein-Westfalen
BOCHUM

Diagnosis of muscular diseases (NGS screening panel: 103 genes)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
GERMANY

Bayern
WÜRZBURG

Diagnosis of Emery-Dreifuss muscular dystrophy (EMD, LMNA genes)
Universität Würzburg - Biozentrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

Accreditation
BELGIUM

HAINAUT
GOSSELIES

Diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA gene)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

More information

Accreditation
GERMANY

Nordrhein-Westfalen
AACHEN

Diagnosis of myopathies (NGS screening panel: 60 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes)

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Accreditation
SWITZERLAND

Suisse Alémanique
BERN

Diagnosis of Emery-Dreifuss muscular dystrophy, X linked (EMD gene)
Universitätsspital Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
NETHERLANDS

Zuid-Holland
LEIDEN

Diagnosis of X-linked Emery-Dreifuss Muscular Dystrophy (EMD gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region sanger sequencing

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Accreditation
NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Dilated Cardiomyopathy (ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DSG2, EMD, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PRDM16, RBM20, SCN5A, TAZ, TCAP, TNNC1, TNNT2, TPM1, TNNI3, TTN and VCL gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing, mlpa based techniques

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Accreditation
UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Molecular diagnosis of Limb Girdle Muscular Dystrophy (LMNA gene)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
NETHERLANDS

Limburg
MAASTRICHT

Molecular diagnosis of Emery-Dreifuss Muscular Dystrophy (LMNA, DES, CAV3, TCAP, LDB3, MYOZ2 and PLN gene)
Maastricht UMC+
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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Accreditation
NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Emery-Dreifuss Muscular Dystrophy (EMD and LMNA gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

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Accreditation
SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Emery-Dreifuss muscular dystrophy (LMNA gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis pcr based techniques

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Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of rare syndromic intellectual disability (NGS screening panel: 640 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Deletion / Duplication analysis ngs sequencing (except wes)

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Accreditation
GERMANY

Bayern
NEU-ULM

Diagnosis of Emery-Dreifuss muscular dystrophy type 2 and 3 (LMNA gene)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of neuromuscular disease (NGS screening panel: 222 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Deletion / Duplication analysis ngs sequencing (except wes)

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Accreditation
GERMANY

Sachsen
DRESDEN

Diagnosis of Emery-Dreifuss muscular dystrophy (EMD and LMNA genes: sequencing, MLPA)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

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Accreditation
GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of Emery-Dreifuss muscular dystrophy (EMD, FHL1, LMNA, SYNE1 genes)
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of genetic neuromuscular disease (NGS screening panel: >600 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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Accreditation
AUSTRIA

STEIERMARK
GRAZ

Diagnosis of FHL1-related myopathies (FHL1 gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

Accreditation
GERMANY

Baden-Württemberg
MANNHEIM

Diagnosis of x-linked Emery-Dreifuss muscular dystrophy (EMD, FHL1 genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
GERMANY

Bayern
WÜRZBURG

Diagnosis of FHL1 gene-associated myopathies
Universität Würzburg - Biozentrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

Accreditation
GERMANY

Hamburg
HAMBURG

Diagnosis of Emery-Dreifuss muscular dystrophy (EMD, LMNA, SYNE1, SYNE2 genes)
Labor Dr. Fenner & Kollegen MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of myopathy /muscular dystrophy (NGS screening panel, 218 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing

More information

Accreditation
NETHERLANDS

Zuid-Holland
ROTTERDAM

Molecular diagnosis of Cardiomyopathy (gene panel)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
GERMANY

Baden-Württemberg
TÜBINGEN

Diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA, TMEM43 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of rare genetic intellectual disability (NGS screening panel: ~2500 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
GERMANY

Nordrhein-Westfalen
DORTMUND

Diagnosis of Muscular dystrophy (NGS screening panel: 56 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
GERMANY

Nordrhein-Westfalen
DORTMUND

Diagnosis of Emery-Dreifuss muscular dystrophy (EMD, LMNA genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of Emery-Dreifuss muscular dystrophy (panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
GERMANY

Baden-Württemberg
MANNHEIM

Diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA, TMEM43 genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

More information

Accreditation
GERMANY

Bayern
WÜRZBURG

Diagnosis of myopathies (NGS screening panel, 65 genes)
Universität Würzburg - Biozentrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of Emery-Dreifuss muscular dystrophy (EMD, FHL1, LMNA, SYNE1, SYNE2 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of FHL1 gene-associated myopathies
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
FRANCE

GRAND-EST
STRASBOURG

Diagnosis of myopathy (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

More information

Accreditation
FRANCE

GRAND-EST
STRASBOURG

Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

More information

Accreditation
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of cardiomyopathy (Panel)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing

More information

Accreditation
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of myopathy with joint contractures (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

More information

Accreditation
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of distal myopathy (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

More information

Accreditation
GERMANY

Nordrhein-Westfalen
AACHEN

Diagnosis of neurogenetic and neuromuscular diseases (NGS panel, 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of limb-girdle muscular dystrophy (Panel : second intention)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, pcr based techniques, mlpa based techniques

More information

Accreditation
NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Cardiomyopathy (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
NETHERLANDS

Noord-Holland
AMSTERDAM

Molecular diagnosis of Limb-Girdle Muscular Dystrophy (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
GERMANY

Nordrhein-Westfalen
AACHEN

Diagnosis of muscular dystrophy including limb girdle dystrophies (NGS screening panel, 43 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

Accreditation
FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Diagnosis of premature aging and laminopathies (Panel)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of rare heart diseases (NGS screening panel: 198 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

More information

Accreditation
NETHERLANDS

Utrecht
UTRECHT

Diagnosis of Myopathy (gene panel; NEM06v17.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

More information

Accreditation
NETHERLANDS

Utrecht
UTRECHT

Diagnosis of Congenital Myopathy (gene panel; NEM04v22.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

More information

Accreditation
NETHERLANDS

Utrecht
UTRECHT

Diagnosis of Other Neuromuscular Disease (gene panel; NEM20v19.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

More information

Accreditation
GERMANY

Bayern
NEU-ULM

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

More information

Accreditation
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of dystrophinopathy (Duchenne / Becker muscular dystrophy) and limb girdle muscular dystrophy (Panel)
AP-HP.Centre - Université de Paris - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

More information

Accreditation
FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Diagnosis of cardiomyopathy (Panel : first intention)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of myopathy and muscular dystrophy (Wide Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

More information

Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of non-alpha-DG congenital muscular dystrophy (Panel : first intention)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, pcr based techniques, mlpa based techniques

More information

Accreditation
FRANCE

HAUTS-DE-FRANCE
AMIENS

Diagnosis of intellectual disability (Clinical exome)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

More information

Accreditation
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of intellectual disability (Whole exome)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

More information

Accreditation
BELGIUM

HAINAUT
GOSSELIES

Diagnosis of myopathies (gene panel)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

More information

Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
LYON

Diagnosis of rare genetic syndromic intellectual disability (Whole exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

More information

Accreditation
BELGIUM

OOST-VLAANDEREN
GENT

Diagnosis of neuromuscular disorders (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of neuromuscular disorders (gene panel)
Hôpital Universitaire de Bruxelles (H.U.B) - Site Hôpital Erasme
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
SWITZERLAND

Suisse Romande
GENÈVE

Diagnosis of muscular dystrophy (panel)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

More information

Accreditation
BELGIUM

VLAAMS BRABANT
LEUVEN

Diagnosis of neuromuscular disorders (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of neuromuscular disorders (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of non-alpha-DG congenital muscular dystrophy (Panel: second intention)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

Accreditation
FRANCE

PAYS DE LA LOIRE
NANTES

Diagnosis of laminopathies (LMNA gene)
CHU de Nantes - Institut de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, pcr based techniques

More information

Accreditation
FRANCE

BRETAGNE
BREST

Diagnosis of intellectual disability (Whole exome)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

More information

Accreditation
FRANCE

ILE-DE-FRANCE
LE CHESNAY

Diagnosis of neurodevelopmental disorders and malformation syndromes (Whole exome)
CH de Versailles - Hôpital André Mignot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

More information

Accreditation
FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Diagnosis of limb-girdle muscular dystrophy (Panel)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

More information

Accreditation
FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Diagnosis of neuromuscular diseases (Panel)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

More information

Accreditation
FRANCE

BRETAGNE
RENNES

Diagnosis of neurodevelopmental disorders (Whole exome)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

More information

Accreditation
FRANCE

PAYS DE LA LOIRE
NANTES

Diagnosis of intellectual disability (Whole exome)
CHU de Nantes - Institut de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

More information

Accreditation
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of hypertrophic cardiomyopathies (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), pcr based techniques, mlpa based techniques

More information

Accreditation
FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of intellectual disability (Clinical exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of Intellectual Disability (NGS panel: 375 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
LYON

Diagnosis of intellectual disability (Whole Exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

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Accreditation
FRANCE

AUVERGNE-RHONE-ALPES
LYON

Diagnosis of neuromuscular diseases (Whole Exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

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Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnostics of genetic neuromuscular disease (NGS screening panel: 373 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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Accreditation
FRANCE

GRAND-EST
METZ

Diagnosis of rare intellectual disability of genetic origin
CHR de Metz-Thionville
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Methylation analysis, Deletion / Duplication analysis array based techniques

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Accreditation
FRANCE

GRAND-EST
METZ

Diagnosis of rare syndromic intellectual disability of genetic origin
CHR de Metz-Thionville
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Methylation analysis, Deletion / Duplication analysis array based techniques

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Accreditation
SWITZERLAND

Suisse Alémanique
BASEL

Diagnosis of intellectual disability by Twist Comprehensive Exome Panel
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

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Accreditation
ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (LMNA gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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AUSTRIA

WIEN
WIEN

Diagnosis of limb girdle muscular dystrophies (ANO5, CAPN3, CAV3, DYSF, FKTN, FKRP, LMNA, MYOT, POMGNT1, POMT1, POMT2, SGCA, SGCB, and SGCG genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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AUSTRIA

WIEN
WIEN

Diagnosis of Emery-Dreifuss muscular dystrophy (LMNA, EMD, and FHL1 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

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

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of Emery-Dreifuss muscular dystrophy type 2 and 3 (LMNA gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EMD gene)
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

SPAIN

Madrid
MADRID

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EMD gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis ngs sequencing (except wes)

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SPAIN

Andalucía
MÁLAGA

Diagnosis of Emery-Dreifuss muscular dystrophy (LMNA, EMD genes)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

SPAIN

Andalucía
MÁLAGA

Diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1B (LMNA gene)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Emery-Dreifuss muscular dystrophy (LMNA gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques

More information

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of Emery-Dreifuss muscular dystrophy (EMD, FHL1, LMNA, SYNE1, SYNE2 genes)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Emery-Dreifuss muscular dystrophy (EMD, LMNA, FHL1 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region sanger sequencing

More information

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of Emery-Dreifuss muscular dystrophy, autosomal dominant (EMD gene)
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

SPAIN

Madrid
MADRID

Diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis ngs sequencing (except wes)

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ITALY

LAZIO
ROMA

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (LMNA gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information

GERMANY

Sachsen
DRESDEN

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
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of laminopathy with striated muscle involvment (LMNA gene)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons pcr based techniques

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Emery-Dreifuss muscular dystrophy (LMNA gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons pcr based techniques

More information

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of myofibrillary myopathies (BAG3, CRYAB, DES, FHL1, FLNC, LDB3, MYOT genes)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

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
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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GERMANY

Sachsen
DRESDEN

Diagnosis of FHL1 gene-associated myopathies
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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GERMANY

Sachsen
DRESDEN

Diagnosis of Emery-Dreifuss muscular dystrophy (EMD, FHL1 and LMNA genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of limb-girdle muscular dystrophy (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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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
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing, whole exome sequencing (wes)

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ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of Emery-Dreifuss muscular dystrophy (sequence analysis of the entire coding region of EMD, LMNA, TMEM43 genes)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing, whole exome sequencing (wes)

More information

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EMD, FHL1 genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of congenital heart diseases (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (EMD, FHL1, and LMNA genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

More information

ITALY

VENETO
PADOVA

Molecular diagnosis of familial cardiomyopathy [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

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SPAIN

Madrid
MADRID

Diagnosis of muscular dystrophy (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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SPAIN

Cataluña
BADALONA

Diagnosis of muscular dystrophy LMNA-related (LMNA gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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SPAIN

Cataluña
BADALONA

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EMD gene)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

SPAIN

La Rioja
LOGROÑO

Diagnosis of limb-girdle muscular dystrophy (CAPN3, CAV3, DYSF, FKRP, LMNA, SGCA, SGCB, SGCD, SGCG genes)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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SPAIN

Cataluña
BARCELONA

Diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1B (LMNA gene)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

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

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ITALY

TOSCANA
PISA

Diagnosis of limb-girdle muscular dystrophies [panel of genes]
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of limb-girdle muscular dystrophy (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of rare cardiomyopathies [panel of genes]
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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SPAIN

Galicia
A CORUÑA

Diagnosis of Emery-Dreifuss muscular dystrophy (panel)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

More information

SPAIN

Galicia
A CORUÑA

Diagnosis of limb-girdle muscular dystrophy (panel)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

More information

ITALY

VENETO
PADOVA

Diagnosis of rare cardiac diseases [panel of genes]
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

More information

SPAIN

Galicia
A CORUÑA

Diagnosis of neuromuscular diseases (panel - 264 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

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SPAIN

Galicia
A CORUÑA

Diagnosis of structural muscle diseases of childhood and adulthood (panel - 56 genes)
Health In Code. A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

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SPAIN

Madrid
TRES CANTOS

Diagnosis of Emery-Dreifuss muscular dystrophy and lipodystrophy (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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SPAIN

Madrid
TRES CANTOS

Diagnosis of muscular dystrophy (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EMD gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

More information

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of autosomal dominant limb-girdle muscular dystrophy type 1B (LMNA gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques

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ITALY

MOLISE
POZZILLI

Diagnosis of limb-girdle muscular dystrophy [panel of genes]
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

More information

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of neuromuscular diseases [panel of genes]
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region ngs sequencing (except wes)

More information

Laboratory officially designated for this diagnostic test
SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of limb-girdle muscular dystrophy (panel)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

More information

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of myopathy, muscular distrophy and myotonia (panel)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

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FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis pcr based techniques

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FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EMD gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis pcr based techniques

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SPAIN

Extremadura
BADAJOZ

Diagnosis of rare genetic intellectual disability
Hospital Universitario de Badajoz
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), array based techniques, whole exome sequencing (wes)

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ITALY

UMBRIA
PERUGIA

Molecular diagnosis of dystrophynopathies (DMD gene)
Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of muscular dystrophy limb-girdle autosomal dominant type 1B, 1C
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis sanger sequencing

More information

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (EMD gene)
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis sanger sequencing

More information

ITALY

LOMBARDIA
PAVIA

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (LMNA gene)
Fondazione IRCCS Policlinico San Matteo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FINLAND

Finland
TAMPERE

Diagnosis of limb-girdle muscular dystrophy type 1 B and Emery-Dreifuss muscular dystrophy (LMNA gene:sequencing of exons 1,2,10,11)
Tampere University Hospital, the Wellbeing Services County of Pirkanmaa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing, pcr based techniques

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AUSTRIA

WIEN
WIEN

Diagnosis of Emery-Dreifuss muscular dystrophy by western blotting for Emerin and Lamin A/C
Universitätsklinikum - AKH Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Service(s) : Protein expression western blot

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ITALY

VENETO
VERONA

Immunohistochemistry diagnosis of Emery-Dreifuss muscular dystrophy, X-linked
Centro Airett Ricerca e Innovazione - CARI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Service(s) : Protein expression immunohistochemistry

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GERMANY

Baden-Württemberg
HEIDELBERG

Diagnosis of Emery-Dreifuss muscular dystrophy type 2 and 3 (LMNA gene)
Analysezentrum III
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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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

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FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of Emery-Dreifuss muscular dystrophies on muscle or neuromuscular biopsy
Hôpitaux Universitaires Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

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FRANCE

ILE-DE-FRANCE
CRÉTEIL

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

More information

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (EMD gene)
AOU Università degli Studi della Campania "Luigi Vanvitelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of muscular dytrophy, autosomal dominant, type 1B (LMNA gene)
AOU Università degli Studi della Campania "Luigi Vanvitelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information

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

More information

ITALY

VENETO
PADOVA

Immunohistochemical diagnosis of X-linked Emery-Dreifuss muscular dystrophy
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Service(s) : Protein expression immunohistochemistry

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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) : Biochemical genetics
Service(s) : Protein expression immunohistochemistry

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POLAND

Warszawa
WARSAW

Immunohistochemical diagnosis of Emery-Dreifuss muscular dystrophy
Mossakowski Medical Research Centre - Polish Academy of Sciances
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Service(s) : Protein expression immunohistochemistry

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PORTUGAL

NORTE
PORTO

Diagnosis autosomal dominant limb-girdle muscular dystrophy types 1A, 1B, 1C (MYOT, LMNA and CAV3 genes)
Centro de Genética Médica Jacinto Magalhães - CHUdSA, EPE/CGMJM
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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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
Service(s) : Analyte / Enzyme assay

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Laboratory officially designated for this diagnostic test
GERMANY

Nordrhein-Westfalen
BONN

Histological, histochemical, biochemical and molecular genetic diagnostics of neuromuscular diseases
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Pathology
Service(s) : Protein expression immunohistochemistry

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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
Service(s) : Sequence analysis: entire coding region sanger sequencing

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (LMNA gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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PORTUGAL

NORTE
PORTO

Diagnosis of Emery-Dreifuss muscular dystrophy (TMEM43, FHL1, SYNE2, LMNA and EMD genes)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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ITALY

LAZIO
ROMA

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (EMD gene)
IRCCS Fondazione Santa Lucia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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ITALY

LAZIO
ROMA

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

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PORTUGAL

NORTE
PORTO

Mental retardation, X-linked syndromic, Lubs type (gene MECP2)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Deletion / Duplication analysis pcr based techniques, mlpa based techniques

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