Search for a diagnostic test
11 Result(s)
Caption
: Accreditation
= ;

FRANCE
NORMANDIE
CAEN
Microsatellite instability detection
Centre François Baclesse
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Uniparental disomy study
Technique(s)
: Microsatellite analysis

FRANCE
ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of inherited cancer-predisposing syndrome (Panel)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY
Baden-Württemberg
ULM
Diagnosis of X-linked lymphoproliferative disease (ITK, SH2D1A and XIAP 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

GERMANY
Baden-Württemberg
ULM
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

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of severe combined immunodeficiency due to CARMIL2 deficiency (CARMIL2 gene)
Hôpital Necker-Enfants Malades
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
ILE-DE-FRANCE
PARIS
Diagnosis of hereditary lymphohistiocytosis and genetic defects leading to susceptibility to EBV (Panel)
Hôpital Necker-Enfants Malades
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)

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of primary immunodeficiency (Panel)
Hôpital Necker-Enfants Malades
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)

SPAIN
Galicia
A CORUÑA
Diagnosis of rare genetic immune disease (panel - 458 genes)
Health In Code
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
Galicia
A CORUÑA
Diagnosis of primary immunodeficiency (panel - 301 genes)
Health In Code
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
BARCELONA
Diagnosis of primary immunodeficiency (panel)
Hospital Universitari Vall d'Hebron
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)

ITALY
LOMBARDIA
MILANO