Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

17 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation ;

FRANCE

OCCITANIE
MONTPELLIER

Accreditation Diagnosis of malignant hemopathies
CHU de Montpellier - Hôpital Saint-Eloi
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics

More information
UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Molecular monitoring of donor chimerism post stem cell transplantation
Sheffield Children's NHS Foundation Trust
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics

More information
FRANCE

GRAND-EST
METZ

Accreditation FISH diagnosis of hemopathies
CHR de Metz-Thionville
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

More information
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

More information
FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation Diagnosis of malignant hemopathies
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

More information
FRANCE

NORMANDIE
ROUEN

Accreditation 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)

More information
FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Genotyping of Langerhans cell histiocytosis
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Purpose(s) : Post-natal diagnosis, Somatic genetics
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), Whole Exome Sequencing (WES)

More information
CANADA

Ontario
TORONTO

Accreditation Molecular Diagnosis of Somatic BRAF Mutation in Hairy Cell Leukemia, Langerhans Hystiocytosis, Papillary Thyroid Carcinoma (BRAF analysis)
Toronto General Hospital
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

More information
FRANCE

GRAND-EST
STRASBOURG

Diagnosis of lymphoid hemopathies (classical caryotype and FISH)
CHU de Strasbourg - Hôpital de Hautepierre
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Technique(s) : FISH

More information
ITALY

LOMBARDIA
CUSANO MILANINO

Postnatal molecular diagnosis of congenital Langerhans cell histiocytosis (BRAF gene)
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
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)

More information
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)

More information
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)

More information
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)

More information
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)

More information
SPAIN

Asturias
OVIEDO

Diagnosis of histiocytic and dendritic cell tumor
Hospital Universitario Central de Asturias
Purpose(s) : Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

More information
PORTUGAL

NORTE
PORTO

Molecular cytogenetic diagnosis of malignant haemopathies
Instituto Português de Oncologia do Porto Francisco Gentil, EPE
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics

More information