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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Baden-Württemberg
ULM

Accreditation Diagnosis of dystrophia myotonica type 2 (CNBP gene)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of proximal myotonic myopathy (CNBP gene)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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FRANCE

GRAND-EST
STRASBOURG

Accreditation Diagnosis of proximal myotonic myopathy (CNBP gene)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation Diagnosis of proximal myotonic myopathy (CNBP gene)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of PROMM, Myotonic Dystrophy type 2 (ZNF9 gene: Molecular diagnosis through gene expansion analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Bayern
WÜRZBURG

Accreditation Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
Universität Würzburg - Biozentrum
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
Technique(s) : Sanger sequencing, PCR based techniques

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of dystrophia myotonica type 2 (CNBP gene)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), PCR based techniques

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UNITED KINGDOM

Cambridgeshire
ST NEOTS

Accreditation Molecular diagnosis of Myotonic Dystrophy type 2 (CNBP gene: Targetted mutation analysis)
The Aplastic Anaemia Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Myotonic Dystrophy type 1 and 2 (DMPK and CNBP gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Myotonic Dystrophy type 1 and 2 (DMPK and CNBP 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

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SWEDEN

Region Stockholm
SOLNA

Accreditation Diagnosis of proximal myotonic myopathy (CNBP gene)
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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NETHERLANDS

Limburg
MAASTRICHT

Accreditation Molecular diagnosis of Myotonic Dystrophy type 2 (ZNF9 gene)
Maastricht UMC+
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of proximal myotonic myopathy (CNBP gene; Southern Blot
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation Molecular diagnosis of Proximal myotonic myopathy -myotonic dystrophy type 2 (CNBP gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Diagnosis of myotonic dystrophy type 2 (CNBP gene)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation Molecular diagnosis of Proximal myotonic myopathy - Myotonic Dystrophy type 2 (CNBP gene: analysis of common expansion mutation)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
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

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GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques, Microsatellite analysis

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

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UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of dystrophia myotonica type 2 (CNBP gene)
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
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

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of proximal myotonic myopathy (CNBP gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Asturias
OVIEDO

Accreditation Diagnosis of proximal myotonic myopathy (CNBP gene)
Hospital Universitario Central de Asturias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
Pränatal-Medizin München MVZ GmbH
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

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Molecular diagnosis of Myotonic dystrophy type 2 (CNBP gene; analysis of PCR fragment)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Myotonic Syndrome (gene panel; NEM09v16.1)
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)

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BELGIUM

HAINAUT
GOSSELIES

Accreditation Diagnosis of myopathies (gene panel)
Institut de Pathologie et de Génétique
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)

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of neuromuscular disorders (gene panel)
Cliniques Universitaires de Bruxelles - Hôpital Erasme
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation Diagnosis of myopathies (gene panel)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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FRANCE

OCCITANIE
TOULOUSE

Accreditation Diagnosis of genetic ocular development pathologies (panel)
CHU de Toulouse - Hôpital Purpan
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, Array based techniques

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SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation Diagnosis of Proximal myotonic myopathy (CNBP gene: tetraplet repeat expansion)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation Diagnosis of neuromuscular diseases (Whole Exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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GERMANY

Bayern
MÜNCHEN

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

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UNITED KINGDOM

Grampian
ABERDEEN

Accreditation Diagnosis of Myotonic Dystrophy type 2 (Proximal Myotonic Myopathy (PROMM), DM2)
Aberdeen Royal Infirmary, Polwarth Building
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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CANADA

Ontario
OTTAWA

Accreditation Molecular Diagnosis of Myotonic Dystrophy Type 2 (ZNF9 repeat analysis)
Children's Hospital of Eastern Ontario
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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ITALY

LOMBARDIA
SAN DONATO MILANESE

Molecular diagnosis of proximal myotonic myopathy (CNBP gene)
IRCCS Policlinico San Donato
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of proximal myotonic myopathy (CNBP gene)
Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of proximal myotonic myopathy (CNBP gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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ITALY

LAZIO
ROMA

Molecular diagnosis of proximal myotonic myopathy (CNBP gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
MADRID

Diagnosis of proximal myotonic myopathy (CNBP gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

Andalucía
MÁLAGA

Diagnosis of proximal myotonic myopathy (CNBP gene)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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AUSTRIA

WIEN
WIEN

Diagnosis of proximal myotonic myopathy (CNBP gene; analysis of PCR fragment)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of proximal myotonic myopathy (CNBP gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of dystrophia myotonica type 2 (CNBP gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Andalucía
SEVILLA

Diagnosis of proximal myotonic myopathy (CNBP gene / (CCTG) in intron 1)
Hospital Universitario Virgen del Rocío
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

La Rioja
LOGROÑO

Diagnosis of proximal myotonic myopathy (CNBP gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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ITALY

VENETO
LIMENA

Molecular and biochemical diagnosis of Steinert myotonic dystrophy (analysis of expansion of microsatellites and Southern Blotting in DMPK and CNBP genes)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of proximal myotonic myopathy (CNBP gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of proximal myotonic myopathy (CNBP gene)
B.I.R.D. Foundation
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of myotonic dystrophy (CNBP and DMPK genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Madrid
MADRID

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

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SPAIN

Cataluña
BADALONA

Diagnosis of proximal myotonic myopathy (CNBP gene / QF-PCR)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of proximal myotonic myopathy (CNBP gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

La Rioja
LOGROÑO

Diagnosis of proximal myotonic myopathy (CNBP gene)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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ITALY

MOLISE
POZZILLI

Diagnosis of proximal myotonic myopathy (CNBP gene)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
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) : PCR based techniques

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of proximal myotonic myopathy (CNBP gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

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ITALY

LIGURIA
GENOVA

Diagnosis of myotonic dystrophy (DMPK and CNBP genes)
IRCCS Ospedale Policlinico San Martino - IST - DIMI
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of proximal myotonic myopathy (CNBP gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Sachsen-Anhalt
MAGDEBURG

Diagnosis of dystrophia myotonica type 2 (CNBP gene)
Universitätsklinikum Magdeburg A.ö.R
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FINLAND

Finland
TAMPERE

Diagnosis of dystrophia myotonica type 2 (CNBP gene:mutation analysis)
TAYS - Tampere University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of proximal myotonic myopathy on muscle biopsy (in situ hybridization)
Hôpitaux Universitaires Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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CZECH REPUBLIC

South Moravia
BRNO

Molecular diagnosis of proximal myotonic myopathy (CNBP gene)
University hospital Brno
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
MILANO

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

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BULGARIA

 South-West region
SOFIA

Molecular diagnosis of myotonic dystrophy (type 1 and 2)
GENICA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

MARCHE
JESI

Molecular diagnosis of male infertility with normal virilisation due to acquired testicular defect associated with mycoplasma infection
BIOAESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Myotonic Dystrophy MD2 (ZNF9 , Mutation analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Capital City Prague
PRAHA

Postnatal molecular diagnosis of proximal myotonic myopathy (CNBP gene)
University Hospital Motol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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POLAND

Warszawa
WARSZAWA

Molecular diagnosis of proximal myotonic myopathy (CNBP gene)
Instytut Psychiatrii i Neurologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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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
Objective(s) : Analyte / Enzyme assay

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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
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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LITHUANIA

DZUKIJA
VILNIUS

Molecular diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
Vilnius University Hospital Santariskiu Klinikos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CANADA

Alberta
CALGARY

Molecular Diagnosis of Myotonic Dystrophy type 2 (ZNF9 triplet repeat analysis)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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MOROCCO

Rabat
RABAT

Molecular diagnosis of male infertility due to Y chromosome deletions (AZF)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of Myotonic dystrophy type 2 (CCTG expansion on CNBP gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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PORTUGAL

SUL
LISBOA

Diagnosis of myotonic dystrophy type 2 (CNBP gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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