x

Search for a diagnostic test

* (*) mandatory field

33 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Familial Haemophagocytic Lymphohistiocystosis (PRF1 gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Molecular diagnosis of familial hemophagocytic lymphohistiocytosis, type 2 FHL2 (PRF1 gene)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Familial Hemophagocytic Lymphohistiocytosis type 2, 3, 4 and 5 (PRF1, UNC13D, STX11 and STXBP2 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of hemophagocytic lymphohistiocytosis (STX11 gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
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
Molecular diagnosis of hemophagocytic lymphohistiocytosis (PRF1 gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Hemophagocytic Lymphohistiocytosis NGS Panel and Del/Dup Analysis (14 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of primary hemophagocytic lymphohistiocytosis (PRF1, UNC13D, STX11, STXBP2, SH2D1A, RAB27A genes)
Reference Laboratory Genetics
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), MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of hemophagocytic lymphohistiocytosis (PRF1, UNC13D genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (UNC13D, PRF1, STXBP2 and STX11 genes)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1, STXBP2, STX11, UNC13D 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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Diagnosis of Hemophagocytic Lymphohistiocytosis type 2, 3, 4 and 5 (Intracellular expression of perforin for type 2, NK cell function test and degranulation essay)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

BELGIUM

OOST-VLAANDEREN
GENT

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
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)

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of hemophagocytic lymphohistiocytosis (PRF1, STX11, STXBP2, UNC13D genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1, STX11, UNC13D genes)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (STX11, STXBP2, UNC13D, PRF1 genes / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

AUSTRIA

WIEN
WIEN

Molecular diagnosis of hemophagocytic lymphohistiocytosis (PRF1, UNC13D, STX11, and STXBP2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis, type 3 and 5 (UNC13D and STXBP2 genes: Sequencing of entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1, STX11, STXBP2, UNC13D genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
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
Technique(s) : NGS sequencing (except WES)

HUNGARY

Észak-Magyarország
DEBRECEN

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis syndromes (PRF1 gene)
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of hemophagocytic lymphohistiocytosis (PRF1 gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1 gene)
Azienda Ospedaliera Spedali Civili di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
PAVIA

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1 gene)
Università degli Studi di Pavia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1, UNC13D, STX11 genes)
Karolinska University Hospital - Clinical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of hemophagocytic lymphohistiocytosis (PRF1 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

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1, STX11, UNC13D and STXBP2 gene sequencing)
Schneider Children's Medical Center of Israel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1, STX11, STXBP2, UNC13D genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Pre-implantation 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
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1, STXBP2, STX11, UNC13D genes) - on request
Cologne Center for Genomics (CCG) der Universität zu Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1 gene)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Preimplantation genetic diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
CÁDIZ

Molecular diagnosis of familial hemophagocytic lymphohistiocytosis (PRF1, UNC13D genes)
Hospital Universitario Puerta del Mar
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics