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Caption : Accreditation =Accreditation ;

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of spondyloenchondrodysplasia (ACP5 / gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of retarted growth (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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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)

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of spondyloenchondrodysplasia (ACP5 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of Spondyloenchondrodysplasia (ACP5 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

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of spondyloenchondrodysplasia (ACP5 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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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

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GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Array-CGH in case of unexplained developmental delay
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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