Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

46 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

GERMANY

Sachsen
WEIßWASSER

Accreditation
Diagnosis of glioblastoma (EGFR and PPARG genes)
Praxis Dr. Mato Nagel
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GREECE

ATTIKI
ATHENS

Accreditation
Molecular cytogenetic diagnosis of glioblastoma by FISH (7p12 amplification)
BioAnalytica-GenoType SA
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Technique(s) : FISH

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Molecular haemato-oncology diagnosis of Glioma (1p & 19q LOH)
Southmead Hospital
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : BS-Pyrosequencing, FISH

GERMANY

Baden-Württemberg
ULM

Accreditation
Diagnosis of NADP-dependent isocitrate dehydrogenase in brain tumor and secondary glioblastom (IDH1 gene)
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Devon
EXETER

Accreditation
Molecular diagnosis of Non small-cell lung cancer response to Gefitinib/Erlotinib (EGFR TKD analysis: EGFR exons 18-21 by pyrosequencing/gene fragment analysis)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of glioblastoma (EGFR gene)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of glioblastoma (EGFR 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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular and molecular cytogenetic diagnosis of glioma (FISH: 1p/19q deletions, MGMT gene promoter methylation status and IDH1 gene mutations)
King's College Hospital
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : FISH

CANADA

Ontario
MISSISSAUGA

Accreditation
Methylation Analysis of MGMT for Therapeutic Option/Prognosis in Glioblastoma
Trillium Health Partners- Credit Valley Site
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of glial tumor (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, FISH

GERMANY

Niedersachsen
HANNOVER

Accreditation
Diagnosis of glioblastoma (EGFR gene)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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

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)

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)

GERMANY

Sachsen
DRESDEN

Accreditation
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)

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)

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Prognosis and therapeutic options in Glioblastoma (MGMT methylation specific PCR analysis)
Center for Medical Genetics Gent
Purpose(s) : Somatic genetics
Specialty(ies) : Other

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular analysis of somatic mutation in tumour tissue for therapeutic decisions (Somatic Tumor Panel, 710 genes)
CeGaT 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)

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of rare genetic tumor (Phénotypage en oncogénétique) (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)

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Diagnosis of glioblastoma (1p36-Deletion, 19q13-Deletion)
Praxis Dr. Lana Harder
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Glioma (MGMT methylation analysis)
Toronto General Hospital
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of diseases associated to TP53 (TP53 gene)
B.I.R.D. Foundation
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of glioblastoma (MGMT gene promoter hypermethylation)
Azienda Ospedaliera "San Paolo" - Università degli Studi di Milano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

UNITED KINGDOM

Surrey
SURREY

Molecular diagnosis of Glioblastoma (EGFR gene)
Institute of Cancer Research ICR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Asturias
OVIEDO

Diagnosis of glial tumors (IDH1, IDH2, MGMT genes )
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques, BS-Pyrosequencing

IRELAND

County Dublin
DUBLIN

Glioblastoma testing on solid tumour samples (by 1p19q Array, MGMT methylation, BRAF Fusion, IDH1&2 methylation)
Beaumont Hospital
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, Array based techniques, BS-Pyrosequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of glial tumors (IDH1 gene)
Medizinische Universität Wien
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of rare neoplastic diseases (panel, qCancer Risk)
qGenomics
Purpose(s) : Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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)

SPAIN

Galicia
A CORUÑA

Diagnosis of rare nervous system tumor (panel - 19 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)

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of cancer (panel)
Fundación Instituto Valenciano de Oncología
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

SPAIN

Asturias
OVIEDO

Diagnosis of rare tumor (panel)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
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)

SPAIN

Baleares
PALMA DE MALLORCA

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

SPAIN

Navarra
PAMPLONA

Diagnosis of solid tumors (panel)
CIMA - Centro de Investigación Médica Aplicada
Purpose(s) : Post-natal 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)

SPAIN

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)

SPAIN

Castilla - León
SALAMANCA

Diagnosis of gliomas (IDH1, IDH2, MGMT genes; Chr. 1p, del(1p); Chr. 19q, del(19p))
BIOSALAB Molecular Biology Solutions
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, BS-Pyrosequencing, FISH

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of rare tumor (panel)
Seqplexing
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
BONN

Histopathological, molecular and cell biological analysis of tumor biopsies of the nervous system
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Histopathological, molecular and cell biological analysis of tumor biopsies of the nervous system
Universitätsklinikum Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Bayern
MÜNCHEN

Methylation Analysis of MGMT gene promoter region for Therapeutic Option/Prognosis in Glioblastoma
Zentrum für Neuropathologie und Prionforschung (ZNP)
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : BS-Pyrosequencing

ITALY

VENETO
VERONA

Molecular diagnosis of tuomours of nervous system
Centro Airett Ricerca e Innovazione - CARI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
HANNOVER

Diagnosis of glioma (FISH: 1p/19q deletions, MGMT gene: promoter methylation status, IDH1 gene: sequencing, BRAF gene: V600E)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of glial tumors (IDH1 and IDH2 genes)
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

TUNISIA

TUNISIA
SOUSSE

Molecular diagnosis of glioblastoma (MGMT gene: MS-MLPA)
CHU Farhat Hached
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

ITALY

LOMBARDIA
MILANO

Diagnosis of glial tumors (MGMT, IDH1, IDH2 genes)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis, Methylation analysis
Technique(s) : PCR based techniques, BS-Pyrosequencing