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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of hemorrhagiparous thrombocytic dystrophy (GP1BA,GP1BB, GP9 genes)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Hematology
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of hemorrhagiparous thrombocytic dystrophy (biological phenotype)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1Ba, GP1Bb and GP9 genes)
St Thomas' Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 genes)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1BA gene)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1BB, GP9 genes: sequencing)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 genes)
Praxisgemeinschaft für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of thrombocytopenias (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, MASTL, MYH9, RUNX1, WAS genes: NGS Screening Panel)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1BB gene, GP1BA, GP9: sequencing of coding regions)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Diagnosis of platelets disorders
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 genes)
Praxis für Humangenetik Freiburg
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

Accreditation
Diagnosis of thrombocytopenia related disorders (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), Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 genes)
Pränatalmedizin München
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

Accreditation
Diagnosis of rare hemorrhagic disorder due to a platelet anomaly (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), Sanger sequencing

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of hemorrhagic disorders due to a constitutional platelet anomaly (Panel)
CHU de Marseille - Hôpital de la Timone
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

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of rare coagulation disorders (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), Sanger sequencing

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of hemorrhagiparous thrombocytic dystrophy
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Diagnosis of hemorrhagiparous thrombocytic dystrophy
Institut Fédératif de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hemorrhagiparous thrombocytic dystrophy
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Bernard-Soulier syndrome
CHU Paris Centre - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GPIX gene)
Zentrallabor des Universitätsklinikums Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB and GP9 by DNA sequencing)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of hemorrhagiparous thrombocytic dystrophy
CHU de Montpellier - Hôpital Saint-Eloi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of Bernard-Soulier syndrome (GP1BA gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Flow cytometry diagnosis of Bernard-Soulier syndrome
Centro Hospitalar do Porto - Hospital Santo António
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 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 Bernard-Soulier syndrome (GP1BA gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
GREIFSWALD

Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 genes: sequencing)
Institut für Humangenetik der Universitätsmedizin Greifswald
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, and GP9 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 genes: Sequencing of the 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

HUNGARY

Észak-Magyarország
DEBRECEN

Molecular diagnosis of Bernard-Soulier syndrome (GP1BA 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 Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, and GP9 genes)
medgen.at GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Diagnosis of Bernard-Soulier syndrome (GP1BA gene)
CHU de Bordeaux-GH Pellegrin
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

FRANCE

PAYS DE LA LOIRE
LE MANS

Diagnosis of Bernard-Soulier syndrome (platelets aggregates)
Centre Hospitalier du Mans
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

BRETAGNE
RENNES

Diagnosis of Bernard-Soulier syndrome
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of hemorrhagiparous thrombocytic dystrophy (platelets aggregates ; flow cytometry)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of hemorrhagiparous thrombocytic dystrophy
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of hemorrhagiparous thrombocytic dystrophy
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Diagnosis of hemorrhagiparous thrombocytic dystrophy
CHU de Clermont-Ferrand - Hôpital d'Estaing
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular and biochemical diagnosis of Bernard-Soulier syndrome (GP1BA, GP1BB, GP9 genes)
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
ARGENTEUIL

Diagnosis of congenital deficiency of coagulation factors
Centre hospitalier Victor Dupouy
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

SERBIA

Serbia
BELGRADE

Diagnosis of inherited bleeding disorders (hemophilia, von Willebrand disease and others rare bleeding disorders)
Blood Transfusion Institute of Serbia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Bernard-Soulier syndrome (GP9, GP1BA and GP1BB genes)
Laboratorio de Genética Clínica, S.L.
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

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of thrombocytopenia (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing