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

FRANCE
PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
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)

GERMANY
Bayern
MÜNCHEN
Molecular diagnosis of reticular dysgenesis (AK2 gene)
Pränatalmedizin München
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

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of reticular dysgenesis (AK2 gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of primary immunodeficiency (gene panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

NETHERLANDS
Utrecht
UTRECHT
Molecular diagnosis of (Severe) Combined Immunodeficiency (gene panel; PID04v16.1)
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)

GERMANY
Baden-Württemberg
ULM
Molecular diagnosis of severe combined immunodeficiency disease (SCID) T-, B- (ADA, AK2, DCLRE1C, RAG1, RAG2, PRKDC genes)
DRK Baden-Württemberg/ Hessen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

BELGIUM
OOST-VLAANDEREN
GENT
Diagnosis of Severe Combined Immunodeficiency (lymphocyte transformation assay: response to mitogens and antigens; TREC assay: CD45RO/CD45RA on T-cells)
Ghent University Hospital - UZGent
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Immunology

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of hereditary immune deficiencies (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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
PATERNA
Molecular diagnosis of reticular dysgenesis (AK2 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SPAIN
Comunidad Valenciana
ELCHE
Diagnosis of reticular dysgenesis (AK2 gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GERMANY
Niedersachsen
HANNOVER
Immunological diagnosis of primary T cell immunodeficiency (flow cytometry)
Medizinische Hochschule Hannover
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Immunology

NETHERLANDS
Zuid-Holland
ROTTERDAM
Biochemical diagnosis of Severe Combined Immunodeficiency (Analyte: Adenosine Deaminase)
Erasmus MC, Faculteitsgebouw
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

NETHERLANDS
Limburg
MAASTRICHT
Biochemical diagnosis of T-cell, B-cell and Severe Combined Immunodeficiency (Analyte: Adenosine Deaminase)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

ITALY
LOMBARDIA
BRESCIA
Molecular diagnosis of reticular dysgenesis (AK2 gene)
Azienda Ospedaliera Spedali Civili di Brescia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

GERMANY
Baden-Württemberg
ULM
Immunological diagnosis of primary immunodeficiencies (PID) - Immunophenotyping including adhesion molecules
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Immunology

ITALY
TOSCANA
FIRENZE
Molecular diagnosis of severe combined immunodeficiency T- B- (RAG1 and RAG2 genes)
Azienda Ospedaliera Universitaria Anna Meyer
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
Technique(s)
: Sanger sequencing

BELGIUM
OOST-VLAANDEREN
GENT