Search for a diagnostic test
17 Result(s)
Caption
: Accreditation
= ;

FRANCE
HAUTS-DE-FRANCE
AMIENS
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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