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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA gene: sequencing)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Adenosine Deaminase Deficiency (ADA gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA 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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of severe combined immunodeficiency disease (SCID) T-, B- (ADA, DCLRE1C, RAG1, RAG2 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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Biochemical diagnosis of Adenosine Deaminase deficiency (Analyte: Adenosine deaminase -ADA)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
ULM

Accreditation
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
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Adenosine Deaminase Deficiency (Adenosine Deaminase activity)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency (ADA gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

OOST-VLAANDEREN
GENT

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of adenosine deaminase deficiency
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA gene - entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

PORTUGAL

NORTE
PORTO

Prenatal and postnatal molecular genetic diagnosis of adenosine deaminase deficiency (ADA gene: sequencing of entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Baden-Württemberg
FREIBURG

Biochemical diagnosis of adenosine deaminase deficiency (purines and pyrimidines in urine, adenosine deaminase activity in erythrocytes)
Zentrum für Kinder- und Jugendmedizin Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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 severe combined immunodeficiency due to adenosine deaminase deficiency (ADA 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)

ITALY

TOSCANA
SIENA

Biochemical diagnosis of ADA-SCID
Università degli Studi di Siena - Presidio San Miniato
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of adenosine deaminase deficiency
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MILANO

Immunological, biochemical and molecular diagnosis of ADA-SCID (ADA gene)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology
Objective(s) : Analyte / Enzyme assay

GREECE

ATTIKI
ATHENS

Diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency 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

ITALY

TOSCANA
FIRENZE

Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SLOVAKIA

Banskobystricky kraj
BANSKA BYSTRICA

Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (Analyte: Adenosine deaminase)
Faculty hospital F.D. Roosevelt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

SICILIA
CATANIA

Molecular and biochemical diagnosis of severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADA)
Università degli Studi di Catania
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Adenosine deaminase deficiency (ADA, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Hovedstaden
COPENHAGEN

Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (Analyte: Adenosine deaminase)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of adenosine deaminase deficiency (purines and pyrimidines in urine)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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

VENETO
PADOVA

Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency deficiency (ADA gene: entire coding sequence)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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 due to adenosine deaminase deficiency (ADA gene)
Hospital Universitario Puerta del Mar
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
FIRENZE

Molecular diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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
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)

AUSTRIA

WIEN
WIEN

Diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency (analysis of ADA activity)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology