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UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of X-linked Severe Combined Immunodeficiency - SCID (IL2RG gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of X-linked Severe Combined Immunodeficiency (IL2RG gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of severe combined immunodeficiency disease (SCID) T-, B+ (CD247, CD3D, CD3E, IL2RG, IL7R, PTPRC genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of T-B+ severe combined immunodeficiency due to gamma chain deficiency (IL2RG gene / sequence analysis entire coding region)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

DENMARK

Fyn
ODENSE

Accreditation
Molecular diagnosis of X-linked severe combined immunodeficiency
Odense University hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of severe combined immunodeficiency disease (SCID) T-, B+ (CD3D, CD3E, CD247, CD45, CORO1A, IL2RG, IL7RA, JAK3 genes)
DRK Baden-Württemberg/ Hessen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of T-B+ Severe Combined Immunodeficiency due to Gamma Chain Deficiency (IL2RG gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

OOST-VLAANDEREN
GENT

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of severe combined immunodeficiency T- B+ due to gamma chain deficiency (IL2RG gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of severe combined immunodeficiency T- B+ due to gamma chain deficiency (IL2RG gene)
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of T-B+ severe combined immunodeficiency due to gamma chain deficiency (IL2RG gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of inflammatory bowel disease (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of T-B+ severe combined immunodeficiency due to gamma chain deficiency (IL2RG gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

HUNGARY

Észak-Magyarország
DEBRECEN

Molecular diagnosis of X-linked severe combined immunodeficiency (IL2RG gene)
University of Debrecen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Antenatal diagnosis of severe combined immunodeficiency by immunological methods
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Immunology

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of severe combined immunodeficiency T-B+, X-linked (IL2RG gene)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Diagnosis of X-linked severe combined immunodeficiency T-B+ by immunophenotyping and flow cytometry
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

GERMANY

Niedersachsen
HANNOVER

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

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of X-linked severe combined immunodeficiency disease (IL2RG 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
Technical procedure(s) : Sanger sequencing

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

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of severe combined immunodeficiency T- B+ due to gamma chain deficiency (IL2RG gene)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of severe combined immunodeficiency T- B+ due to gamma chain deficiency (IL2RG gene)
Laboratorio de Genética Clínica, S.L.
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, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of severe combined immunodeficiency T- B+ NK- (JAK3, IL2RG genes)
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

SPAIN

Andalucía
CÁDIZ

Molecular diagnosis of severe combined immunodeficiency T- B+ due to gamma chain deficiency (IL2RG gene)
Hospital Universitario Puerta del Mar
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
FIRENZE

Molecular diagnosis of severe combined immunodeficiency T-B+ due to gamma chain deficiency (IL2RG and IL7RA 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
Technical procedure(s) : Sanger sequencing

BELGIUM

OOST-VLAANDEREN
GENT

Molecular diagnosis of SCID (gene analysis for IL2RG, JAK3, IL7R, IL15RA, PTPRC, CD3D, CD3E, CD3G, CD247, CD8A, ZAP70, RAG1, RAG2, DCLRE1C, ADA, AK2, LIG4, NHEJ1, PNP, PRKDC, LCK using whole exome sequencing)
Ghent University Hospital - UZGent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Whole Exome Sequencing (WES)

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
Technical procedure(s) : NGS sequencing (except WES)