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Caption : Accreditation =Accreditation
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UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Pulmonary Alveolar Proteinosis (Direct sequencing of coding exons 1-10 of SFTPB, 1-5 of SFTPC and 4-33 of ABCA3)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Pulmonary Surfactant Metabolism Dysfunction type 3 (ABCA3 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of hereditary pulmonary alveolar proteinosis (CSF2RA gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of hereditary pulmonary alveolar proteinosis (CSF2RA gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of hereditary pulmonary alveolar proteinosis (CSF2RA gene)
Pränatalmedizin München
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

GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation
Molecular diagnosis of respiratory distress with surfactant metabolism deficiency (ABCA3, CSF2RA, SFTPB, SFTPC genes)
Institut für Laboratoriumsmedizin und Humangenetik
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
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)

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of congenital pulmonary alveolar proteinosis (SFTPB gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORWAY

Østlandet
OSLO

Molecular diagnosis of pulmonary surfactant protein anomalies (ABCA3 gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORWAY

Østlandet
OSLO

Molecular diagnosis of Acute Respiratory Distress Syndrome (SFTPB gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of congenital pulmonary alveolar proteinosis (CSF2RA 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
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of interstitial lung disease to childhood due to pulmonary surfactant protein anomalies (SFTPB, SFTPC and ABCA3 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)

ITALY

LAZIO
ROMA

Molecular diagnosis of deficiency of B and C pulmonary surfactant proteins (common mutations in SFTPB, SFTPC and ABCA3 genes)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Congenital pulmonary alveolar proteinosis (ABCA3 gene: 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

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Molecular diagnosis of primary interstitial lung disease (SFTPB, SFTPC, ABCA3, NKX2-1 genes)
CHU Henri Mondor
Purpose(s) : Antenatal diagnosis, 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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of hereditary pulmonary alveolar proteinosis (CSF2RA gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of interstitial lung disease (Panel)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

LOMBARDIA
BRESCIA

Molecular prenatal diagnosis of alveolar proteinosis (CSF2RA gene)
Azienda Ospedaliera Spedali Civili di Brescia
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

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

BELGIUM

OOST-VLAANDEREN
GENT

Immunochemical diagnosis of TLR signaling defect (cytokine production IL6, IL1beta, IL10 upon stimulation with TLR ligands)
Ghent University Hospital - UZGent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Immunology
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry