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FRANCE

AUVERGNE-RHONE-ALPES
SAINT-PRIEST-EN-JAREZ

Accreditation Diagnosis of retinoblastoma
CHU de Saint-Etienne - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation Diagnosis of retinoblastoma
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

OCCITANIE
NÎMES

Accreditation Diagnosis of retinoblastoma
CHU de Nîmes - Hôpital Carémeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of retinoblastoma
GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

AUVERGNE-RHONE-ALPES
CHAMBERY

Accreditation Diagnosis of retinoblastoma
CHMS Site Chambéry
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of retinoblastoma
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of retinoblastoma (RB1 gene)
CLCC Institut Curie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Microsatellite analysis

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GERMANY

Nordrhein-Westfalen
ESSEN

Accreditation Diagnosis of retinoblastoma (RB1 gene)
Universitätsklinikum Essen
Purpose(s) : Post-natal diagnosis, Somatic genetics, Risk assessment
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Sanger sequencing, MLPA based techniques, Karyotyping

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GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation Diagnosis of retinoblastoma (RB1 gene)
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

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FRANCE

OCCITANIE
MONTPELLIER

Accreditation Diagnosis of retinoblastoma (RB1 gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of retinoblastoma (RB1 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) : NGS sequencing (except WES)

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GERMANY

Schleswig-Holstein
KIEL

Accreditation Diagnosis of retinoblastoma
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation Molecular cytogenetics diagnosis (FISH) of Retinoblastoma
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation Molecular diagnosis of Retinoblastoma (RB1: bi-directional Sanger sequencing, MLPA and LOH, microarray)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques, Array based techniques

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AUSTRIA

STEIERMARK
GRAZ

Accreditation Diagnosis of retinoblastoma (RB1 gene)
Medizinische Universität Graz
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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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of retinoblastoma
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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NETHERLANDS

Groningen
GRONINGEN

Accreditation Molecular diagnosis of Retinoblastoma (RB1 gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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IRELAND

County Dublin
DUBLIN

Accreditation Molecular cytogenetic diagnosis of Retinoblastoma (by conventional karyotype and FISH analysis)
Our Lady's Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

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UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation Molecular cytogenetic diagnosis of Retinoblastoma (by FISH analysis)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular cytogenetic diagnosis of Retinoblastoma (by FISH analysis)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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SPAIN

Madrid
MAJADAHONDA

Accreditation Diagnosis of retinoblastoma (RB1 gene)
Instituto de Salud Carlos III. Campus de Majadahonda
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

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FRANCE

BRETAGNE
BREST

Accreditation Diagnosis of retinoblastoma (FISH analysis)
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation Molecular cytogenetic diagnosis of Retinoblastoma (by FISH and MLPA testing at 13q14)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : MLPA based techniques, FISH

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UNITED KINGDOM

Avon
BRISTOL

Accreditation Molecular cytogenetic diagnosis of retinoblastoma (FISH analysis at locus 13q14)
Southmead Hospital
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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UNITED KINGDOM

Avon
BRISTOL

Accreditation Molecular cytogenetic diagnosis of retinoblastoma by FISH analysis (deletion 13-q14q14)
Southmead Hospital
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH

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UNITED KINGDOM

Cambridgeshire
ST NEOTS

Accreditation Molecular cytogenetic diagnosis of retinoblastoma (FISH analysis)
The Aplastic Anaemia Trust
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of retinoblastoma (RB1 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

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Molecular diagnosis of retinoblastoma (RB1 gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of retinoblastoma (RB1 gene)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, FISH

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of retinoblastoma (RB1 gene)
Reference Laboratory Genetics
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

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ESTONIA

Tartu
TARTU

Accreditation Molecular diagnosis of retinoblastoma (RB1 gene)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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CANADA

Ontario
MISSISSAUGA

Accreditation Molecular Cytogenetic Solid Tumor Analysis (Paraffin Embedded Tissue ALK, MYC, ERBB2)
Trillium Health Partners- Credit Valley Site
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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FRANCE

NORMANDIE
CAEN

Accreditation Microsatellite instability detection
Centre François Baclesse
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Medizinisch Genetisches Zentrum München
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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GERMANY

Baden-Württemberg
ULM

Accreditation Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Ulm
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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GERMANY

Bayern
WÜRZBURG

Accreditation Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universität Würzburg - Biozentrum
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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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

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Hereditary Cancer (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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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of mitochondrial disorders
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Pre-implantation 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, PCR based techniques

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Retinoblastoma (gene: RB1)
Barts Health NHS Trust
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, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques, BS-Pyrosequencing

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NORWAY

Vestlandet
BERGEN

Accreditation Molecular diagnosis of retinoblastoma (RB1 gene)
Haukeland University Hospital
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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UNITED KINGDOM

Greater London
LONDON

Accreditation Cytogenetic diagnosis of Retinoblastoma (by FISH analysis)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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GERMANY

Schleswig-Holstein
KIEL

Accreditation Diagnosis of retinoblastoma (RB1 (13q14))
Praxis Dr. Lana Harder
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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CANADA

Ontario
BOWMANVILLE

Accreditation Molecular diagnosis of retinoblastoma (by DNA sequencing and copy number analysis of RB1 gene, MYCN copy number analysis)
Impact Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, BS-Pyrosequencing

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CANADA

Ontario
TORONTO

Accreditation Molecular Cytogenetic Diagnosis of Hereditary Retinoblastoma (FISH RB1)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

BRETAGNE
RENNES

Diagnosis of retinoblastoma
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

Diagnosis of retinoblastoma
CHRU de Besançon - Hôpital Jean Minjoz
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics

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ITALY

LOMBARDIA
MONZA

Molecular cytogenetics diagnosis of retinoblastoma
Azienda Ospedaliera San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LAZIO
ROMA

Diagnosis of retinoblastoma
Istituto CSS-Mendel
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

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ITALY

LOMBARDIA
MILANO

Postnatal molecular cytogenetics diagnosis of retinoblastoma (FISH analysis)
Università degli Studi di Milano - Biologia e Genetica per le Scienze Mediche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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ITALY

TOSCANA
SIENA

Molecular diagnosis of retinoblastoma (RB1 gene)
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
VARESE

Molecular cytogenetic diagnosis of retinoblastoma
A.O.U. Ospedale di Circolo e Fondazione Macchi - Università dell'Insubria
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LOMBARDIA
PAVIA

Molecular cytogenetics diagnosis of retinoblastoma
Università degli Studi di Pavia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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PORTUGAL

NORTE
PORTO

Molecular cytogenetic diagnosis of retinoblastoma
Faculdade de Medicina da Universidade do Porto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of retinoblastoma (RB1 gene)
Sistemas Genómicos S.L.
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), MLPA based techniques

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FRANCE

ILE-DE-FRANCE
LE BLANC MESNIL

Diagnosis of retinoblastoma
Laboratoire d'analyses médicales Clément
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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ITALY

LOMBARDIA
BUSTO ARSIZIO

Molecular cytogenetic diagnosis of retinoblastoma (RB1 gene)
Toma Advanced Biomedical Assays S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Molecular cytogenetic diagnosis of Retinoblastoma (gene deletion FISH analysis at 13q14)
Cambridge University Hospitals NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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ITALY

LAZIO
ROMA

Molecular diagnosis of retinoblastoma (RB1 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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DENMARK

Sjælland
GLOSTRUP

Molecular cytogenetic diagnosis of retinoblastoma (microdeletion analysis)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of retinoblastoma (RB1 gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis, Somatic genetics
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

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FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of retinoblastoma (by FISH)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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UNITED KINGDOM

Lothian
EDINBURGH

Molecular cytogenetic diagnosis of Retinoblastoma (by FISH analysis)
Western General Hospital
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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UNITED KINGDOM

Greater London
LONDON

Diagnosis of Retinoblastoma (by FISH analysis)
Barts Health NHS trust - The Royal London Hospital-Pathology Pharmacy Building
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

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SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of retinoblastoma (RB1 gene)
Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of retinoblastoma (RB1 gene: sequencing, MLPA)
Praxis für Humangenetik und Prävention
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

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SPAIN

País Vasco
DERIO

Molecular diagnosis of retinoblastoma (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of retinoblastoma (RB1 gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
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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PORTUGAL

NORTE
PORTO

Molecular diagnosis of retinoblastoma (RB1 gene: sequencing of the entire coding region and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of retinoblastoma (RB1 gene)
Klinikum Stuttgart - Standort Olgahospital
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

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GERMANY

Sachsen
DRESDEN

Diagnosis of retinoblastoma (RB1 gene: sequencing / MLPA)
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

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SPAIN

Castilla - León
SALAMANCA

Diagnosis of retinoblastoma (RB1 gene)
IBSAL - Instituto de Investigación Biomédica de Salamanca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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CANADA

Alberta
CALGARY

Molecular Cytogenetic Diagnosis of Retinoblastoma (mFISH RB1 probe analysis)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of retinoblastoma (RB1 gene)
Bioarray
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), MLPA based techniques

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SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of retinoblastoma (RB1 gene)
DNA Data
Purpose(s) : Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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GERMANY

Sachsen
DRESDEN

Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
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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AUSTRIA

WIEN
WIEN

Molecular diagnosis of hereditary retinoblastoma (RB1 gene)
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 hereditary cancer (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
L'HOSPITALET DE LLOBREGAT

Diagnosis of inherited cancer risk (panel)
ICO Hospitalet - Hospital Duran i Reynals
Purpose(s) : Post-natal diagnosis, Somatic genetics, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of idiopathic intellectual disability, autism, growth delay, and / or multiple congenital anomalies (qChip® Post)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of inherited cancer-predisposing syndrome (panel)
Hospital Sant Joan de Déu Barcelona
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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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ITALY

VENETO
BELLUNO

Molecular cytogenetics diagnosis of retinoblastoma
Ospedale San Martino
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

VENETO
VERONA

Molecular cytogenetics diagnosis of retinoblastoma (D13S319 gene)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

ABRUZZO
L'AQUILA

Molecular cytogenetic diagnosis of retinoblastoma
Università degli Studi dell'Aquila - Coppito
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

EMILIA ROMAGNA
REGGIO EMILIA

Molecular cytogenetic diagnosis of retinoblastoma
IRCCS Arcispedale Santa Maria Nuova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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CZECH REPUBLIC

South Moravia
BRNO

Molecular diagnosis of retinoblastoma (RB1 gene)
University hospital Brno
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NORWAY

Østlandet
OSLO

Molecular diagnosis of retinoblastoma (RB1 gene)
Oslo Universitetssykehus HF, Rikshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of retinoblastoma (RB1 gene)
Karolinska Universitetsjukhuset - Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Retinoblastoma (RB1, Sequencing, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Retinoblastoma (RB1, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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POLAND

Kraków
KRAKOW

Molecular diagnosis of retinoblastoma (RB1 gene)
Uniwersytecki Szpital Dzieciecy w Krakowie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of retinoblastoma (RB1 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
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

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SPAIN

Cataluña
BARCELONA

Diagnosis of retinoblastoma (RB1 gene)
Universitat de Barcelona. Facultat de Biologia
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Berlin
BERLIN

Diagnosis of cancer (NGS screening panel, 402 genes)
ATG GenMed GmbH
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
BARCELONA

Diagnosis of inherited visual disorders
Universitat de Barcelona. Facultat de Biologia
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), Whole Exome Sequencing (WES)

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SPAIN

La Rioja
LOGROÑO

Diagnosis of retinoblastoma (RB1 gene)
Hospital San Pedro
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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SPAIN

La Rioja
LOGROÑO

Diagnosis of hereditary cancer (panel)
Hospital San Pedro
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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