Search for a diagnostic test
106 Result(s)
Caption
: Accreditation
= ;

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

GRAND-EST
VANDOEUVRE-LÈS-NANCY
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

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

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

AUVERGNE-RHONE-ALPES
CHAMBERY
Diagnosis of retinoblastoma
CHMS Site Chambéry
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

BOURGOGNE-FRANCHE-COMTE
BESANÇON
Diagnosis of retinoblastoma
CHU de Besançon - Hôpital Jean Minjoz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

ILE-DE-FRANCE
PARIS
Diagnosis of retinoblastoma
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

ILE-DE-FRANCE
PARIS
Diagnosis of predisposition to retinoblastoma (gene RB1): constitutional and tumoral approaches
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

Nordrhein-Westfalen
ESSEN
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

Baden-Württemberg
HEIDELBERG
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

OCCITANIE
MONTPELLIER
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
Technique(s)
: Sanger sequencing

Rheinland-Pfalz
INGELHEIM AM RHEIN
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)

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

Greater Manchester
MANCHESTER
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

Greater London
LONDON
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

STEIERMARK
GRAZ
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)

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

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

Region Stockholm
STOCKHOLM
Diagnosis of retinoblastoma (RB1 gene)
Karolinska Universitetssjukhuset - Solna
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: MLPA based techniques

Merseyside
LIVERPOOL
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

West Midlands
BIRMINGHAM
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

Madrid
MAJADAHONDA
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

OCCITANIE
MONTPELLIER
Diagnosis of retinoblastoma (by FISH)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH

BRETAGNE
BREST
Diagnosis of retinoblastoma (FISH analysis)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: FISH

West Yorkshire
LEEDS
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

Avon
BRISTOL
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

Avon
BRISTOL
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

Cambridgeshire
ST NEOTS
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

Rheinland-Pfalz
INGELHEIM AM RHEIN
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

TIROL
INNSBRUCK
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

Baden-Württemberg
TÜBINGEN
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

Cataluña
L'HOSPITALET DE LLOBREGAT
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

Tartu
TARTU
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

Ontario
MISSISSAUGA
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

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

Bayern
MÜNCHEN
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)

Baden-Württemberg
ULM
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)

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)

Bayern
WÜRZBURG
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)

Gelderland
NIJMEGEN
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)

Gelderland
NIJMEGEN
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)

NORMANDIE
ROUEN
Diagnosis of rare genetic tumor (Phenotyping in oncogenetics) (Whole exome)
CHU de Rouen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

VLAAMS BRABANT
LEUVEN
Diagnosis of retinoblastoma (RB1 gene)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of retinoblastoma (RB1 gene)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of inherited cancer-predisposing syndrome (Panel)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Sachsen
DRESDEN
Diagnosis of retinoblastoma (RB1 gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

ILE-DE-FRANCE
PARIS
Complete tumor genetic analysis (Panel)
CLCC Institut Curie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of onco-endocrine pathologies (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Vestlandet
BERGEN
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)

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

Schleswig-Holstein
KIEL
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

Ontario
BOWMANVILLE
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

Ontario
TORONTO
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

Region Stockholm
SOLNA
Diagnosis of hereditary cancer (Panel - GeneMate)
iCellate Medical AB
Purpose(s)
: Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

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

LOMBARDIA
MONZA
Molecular cytogenetics diagnosis of retinoblastoma
ASST Monza - Ospedale San Gerardo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

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

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

TOSCANA
SIENA
Diagnosis of retinoblastoma (RB1 gene)
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
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), MLPA based techniques

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

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

Schleswig-Holstein
KIEL
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

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

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

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

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

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

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

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

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

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

Galicia
SANTIAGO DE COMPOSTELA
Diagnosis of retinoblastoma (RB1 gene)
Hospital Clínico 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

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

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)

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

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

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

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

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

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)

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

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

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)

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)

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)

Comunidad Valenciana
VALENCIA
Diagnosis of hereditary retinoblastoma (RB1 gene)
Hospital Universitario y Politécnico La Fe
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

Galicia
A CORUÑA
Diagnosis of genetic cancer (panel - 128 genes)
Health In Code
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

Madrid
MADRID
Diagnosis of retinoblastoma (RB1 gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s)
: Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Baleares
PALMA DE MALLORCA
Diagnosis of hereditary cancer (panel)
Hospital Universitari Son Espases
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of retinoblastoma (RB1 gene)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

Comunidad Valenciana
VALENCIA
Diagnosis of solid tumors (panel)
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

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

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

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

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

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

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

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

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

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

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

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)

NORTE
PORTO
Diagnosis of retinoblastoma (RB1 gene)
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)
: Sanger sequencing, MLPA based techniques

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

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

Cataluña
BARCELONA