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SWITZERLAND

Suisse Romande
GENÈVE

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of autosomal dominant macrothrombocytopenia (TUBB1 and ACTN1 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

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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of autosomal dominant macrothrombocytopenia (TUBB1 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

CZECH REPUBLIC

South Moravia
HODONIN

Accreditation
Molecular diagnosis of autosomal dominant macrothrombocytopenia with abnormal proplatelet formation (ITGB3 gene)
Chemila, spol. s r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of autosomal dominant macrothrombocytopenia (platelets aggregates ; flux cytometry ; TUBB1 and ACTN1 genes)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Hematology
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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

CZECH REPUBLIC

Liberec
LIBEREC

Molecular diagnosis of autosomal dominant macrothrombocytopenia with abnormal proplatelet formation (ITGB3 gene)
Regional Hospital Liberec, Krajska nemocnice Liberec
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of hemorrhagic disorders due to a constitutional platelet anomaly (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing