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FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of intellectual disability (Clinical exome)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of epilepsy syndrome
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of non-rare thrombophilia (F5 gene: Leiden mutation; F2 gene: G20210A mutation; MTHFR gene)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of Angelman syndrome (Methylation Analysis (MS-MLPA)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (Methylation Analysis (MS-MLPA)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of Prader-Willi syndrome (Methylation Analysis (MS-MLPA)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of Prader-Willi syndrome (Methylation Analysis (MS-MLPA)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of genetic cardiac disease
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of alpha thalassemia (HBA1 and HBA2 genes)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), PCR based techniques, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of hemochromatosis (HFE gene: C282Y, H63D, S65C mutations)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnostic de la béta-thalassémie et des maladies liées à HBB (étude complète du gène HBB)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of fragile X syndrome (FMR1 gene)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of enzymopathies and membranopathies (Panel)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of hereditary hemochromatosis (Panel)
CHU Amiens-Picardie - Site Sud
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

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of congenital polycythemia (Panel)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of family predisposition to myeloid diseases (Panel)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of congenital heart defects (Whole exome)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)