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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

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Laboratory officially designated for this diagnostic test
     Accreditation
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

Diagnosis of unspecific developmental delay (NGS screening panel: 1666 genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)