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

GERMANY
Thüringen
JENA
Diagnosis of Amelogenesis imperfecta (AMELX, CNNM4, DLX3, ENAM, FAM83H, KLK4, MMP20, WDR72 genes) - on request
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Bayern
MÜNCHEN
Diagnosis of Amelogenesis imperfecta (AMELX, DLX3, ENAM, FAM83H, KLK4, MMP20, WDR72 genes: sequencing)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of osteogenesis imperfecta (Panel)
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)

NETHERLANDS
Utrecht
UTRECHT
Molecular diagnosis of Amelogenesis Imperfecta (gene panel; DON02v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of amelogenesis imperfecta (gene panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

FRANCE
ILE-DE-FRANCE
PARIS
Exploration of mineral metabolism (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
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
GRAND-EST
STRASBOURG
Diagnosis of rare oral diseases (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

GERMANY
Niedersachsen
OSNABRÜCK
Diagnosis of Amelogenesis imperfecta (ENAM, KLK4 genes)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ITALY
VENETO
PADOVA
Postnatal molecular diagnosis of amelogenesis imperfecta (sequence analysis of the entire coding region of ENAM, AMELX, KLK4, MMP20, WDR72, FAM83H, DLX3 genes)
Azienda Ospedaliera di Padova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

AUSTRIA
WIEN
WIEN