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Caption : Accreditation =Accreditation
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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Triphalangeal Thumb-Polysyndactyly Syndrome (ZRS element)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of ciliopathy (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)

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of limb malformations (Panel : 107 genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of limb malformations (Panel : 19 genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of limb malformations (Panel : 42 genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of triphalangeal thumb - polysyndactyly syndrome (LMBR1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of triphalangeal thumb-polysyndactyly syndrome (LMBR1 gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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