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

SWITZERLAND
Suisse Romande
GENÈVE
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

GERMANY
Thüringen
JENA
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

FRANCE
NOUVELLE AQUITAINE
POITIERS
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)

FRANCE
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
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)

FRANCE
GRAND-EST
REIMS
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)

FRANCE
ILE-DE-FRANCE
PARIS
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)

FRANCE
BRETAGNE
RENNES
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)

FRANCE
AUVERGNE-RHONE-ALPES
LYON
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)

GERMANY
Bayern
MÜNCHEN
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)

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)

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

ITALY
LIGURIA
GENOVA