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Caption : Accreditation =Accreditation ;

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Search of duplications and/or deletions by array-CGH
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH

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GERMANY

Thüringen
JENA

Accreditation Prenatal diagnosis of neural tube defects and other malformations by biochemical methods (AFP test)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

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FRANCE

GRAND-EST
REIMS

Accreditation Diagnosis of developmental abnormalities (Whole exome)
CHU de Reims - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of developmental abnormalities without intellectual disability (Whole exome)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

BRETAGNE
RENNES

Accreditation Diagnosis of neural tube defects (Whole exome)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation Diagnosis of developmental defects during embryogenesis (Whole exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of brain malformations (NGS panel: 900 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Extremadura
BADAJOZ

Diagnosis of rare genetic developmental defect during embryogenesis
Hospital Universitario de Badajoz
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques, Whole Exome Sequencing (WES)

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ITALY

LIGURIA
GENOVA

Molecular diagnosis of neural tube defects (VANGL1, VANGL2 genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LIGURIA
GENOVA

Polymorphisms analysis in folate metabolism genes (MTHFR, MTHFD1 genes) for the neural tube defects prevention and risk estimation
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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