Search for a diagnostic test
21 Result(s)
Laboratory officially designated for this diagnostic test
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Accreditation
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SWITZERLAND
Suisse Romande
LAUSANNE
Search of genomic DNA duplications and/or deletions by array-CGH
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis array based techniques
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
Service(s)
: Deletion / Duplication analysis, Detection of chromosome alterations large in size array based techniques, fish
SWITZERLAND
Suisse Alémanique
SCHLIEREN
Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis array based techniques
NETHERLANDS
Gelderland
NIJMEGEN
Diagnosis in case of Multiple Congenital Anomalies (SNP-based array or NGS sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Cytogenetics
Service(s)
: Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications ngs sequencing (except wes), array based techniques
GERMANY
Nordrhein-Westfalen
KÖLN
Diagnosis of craniolenticulosutural dysplasia (SEC23A gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region sanger sequencing
GERMANY
Bayern
MÜNCHEN
Diagnosis of craniolenticulosutural dysplasia (SEC23A gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region sanger sequencing
UNITED KINGDOM
Greater Manchester
MANCHESTER
Molecular cytogenetic diagnosis of learning disability, developmental delay, congenital anomalies and dysmorphism syndromes, autism or mild intellectual disability (by conventional karyotype, array or FISH analysis)
St Mary's Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Service(s)
: Detection of chromosome alterations large in size, Detection of microdeletions/microduplications array based techniques, fish, karyotyping
FRANCE
NOUVELLE AQUITAINE
POITIERS
Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of multiple congenital anomalies/dysmorphic syndromes (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except 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
Service(s)
: Targeted mutation analysis, Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
FRANCE
ILE-DE-FRANCE
LE CHESNAY
Diagnosis of neurodevelopmental disorders and malformation syndromes (Whole exome)
CH de Versailles - Hôpital André Mignot
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
FRANCE
GRAND-EST
METZ
Diagnosis of multiple congenital anomalies without intellectual disability
CHR de Metz-Thionville
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Methylation analysis, Deletion / Duplication analysis array based techniques
SWITZERLAND
Suisse Alémanique
BASEL
Diagnosis of developmental disorders by Twist Comprehensive Exome Panel
Universitätsspital Basel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)
ITALY
VENETO
PADOVA
Molecular diagnosis of rare cataract [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of congenital cataracts (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis ngs sequencing (except wes)
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of developmental abnormalities without intellectual disability (Whole genome sequencing)
GCS AURAGEN
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), array based techniques, whole exome sequencing (wes)
GERMANY
Bayern
ERLANGEN