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295 Result(s)
Laboratory officially designated for this diagnostic test
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FRANCE
AUVERGNE-RHONE-ALPES
SAINT-PRIEST-EN-JAREZ
Diagnosis of Williams syndrome
CHU de Saint-Etienne - Hôpital Nord
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
ILE-DE-FRANCE
LE CHESNAY
Diagnosis of Williams syndrome
CH de Versailles - Hôpital André Mignot
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of Williams syndrome
APHP - HUPC - Site Cochin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
GRAND-EST
REIMS
Diagnosis of Williams syndrome
CHU de Reims - Hôpital Robert Debré
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of Williams syndrome (FISH analysis of ELN gene)
Hôpital Necker-Enfants Malades
Purpose(s)
: Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of Williams syndrome
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
HAUTS-DE-FRANCE
LILLE
Diagnosis of Williams syndrome
CHRU de Lille - Hôpital Jeanne de Flandre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
GRAND-EST
NANCY
Diagnosis of Williams syndrome
Laboratoires ATOUTBIO
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
OCCITANIE
QUINT FONSEGRIVES
Diagnosis of Williams syndrome
Laboratoire Labosud Garonne
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of Williams syndrome
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
CENTRE-VAL DE LOIRE
ORLEANS
Diagnosis of Williams syndrome
CHR d'Orléans
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of Williams syndrome
CHU de Marseille - Hôpital de la Timone
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnosis of Williams syndrome
Laboratoire de biologie médicale GEN-BIO
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
TOSCANA
FIRENZE
Postnatal molecular cytogenetics diagnosis of Williams syndrome (determined by FISH and array based techniques)
Azienda Ospedaliero Universitaria Careggi
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
GERMANY
Nordrhein-Westfalen
BONN
Diagnosis of Williams syndrome
Universitätsklinikum Bonn (AöR)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Baden-Württemberg
HEIDELBERG
Diagnosis of Williams syndrome (ELN, LIMK1 genes)
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Thüringen
JENA
Diagnosis of Williams syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Bayern
NEU-ULM
Diagnosis of Williams syndrome
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Baden-Württemberg
TÜBINGEN
Diagnosis of Williams syndrome
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Baden-Württemberg
ULM
Diagnosis of Williams syndrome (MLPA)
Universitätsklinikum Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Deletion / Duplication analysis mlpa based techniques
FRANCE
NOUVELLE AQUITAINE
LIMOGES
Diagnosis of microdeletion microduplication syndromes
CHU de Limoges - Hôpital de la mère et de l'enfant
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Bayern
MÜNCHEN
Diagnosis of Williams syndrome
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Deletion / Duplication analysis mlpa based techniques
SWITZERLAND
Suisse Romande
GENÈVE
Diagnosis of Williams syndrome (ELN gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis mlpa based techniques
SWITZERLAND
Suisse Alémanique
SCHLIEREN
Diagnosis of Williams syndrome (FISH; MLPA; microarray; entire coding region ELN gene)
Universität Zürich
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test, Deletion / Duplication analysis mlpa based techniques
GERMANY
Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of Williams syndrome
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Nordrhein-Westfalen
BOCHUM
Diagnosis of Williams-Beuren syndrome
Ruhr-Universität Bochum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
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)
: Array test, Deletion/duplication test
SWITZERLAND
Suisse Romande
LAUSANNE
Molecular cytogenetics diagnosis (FISH) of Williams syndrome (del 7q)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
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, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
GERMANY
Sachsen
DRESDEN
Diagnosis of Williams syndrome
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Bayern
MARTINSRIED/PLANEGG
Diagnosis of Williams syndrome
MVZ Martinsried GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
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)
: Array test, Deletion/duplication test
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of Williams syndrome
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
BELGIUM
HAINAUT
GOSSELIES
Diagnosis of chromosomal anomalies
Institut de Pathologie et de Génétique
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
ITALY
LOMBARDIA
BOSISIO PARINI
Diagnosis of Williams syndrome
IRCCS "E. Medea"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Asturias
OVIEDO
Diagnosis of Williams syndrome (7q microdeletion detection)
Hospital Universitario Central de Asturias
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Uniparental disomy study microsatellite analysis
GERMANY
Baden-Württemberg
FREIBURG
Diagnosis of Williams-Beuren syndrome (ELN gene: deletion analysis only)
SYNLAB MVZ Freiburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis mlpa based techniques
GERMANY
Niedersachsen
GÖTTINGEN
Diagnosis of Williams syndome
Institut für Humangenetik der Universität Göttingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Schleswig-Holstein
LÜBECK
Diagnosis of Williams-Beuren syndrome
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
UNITED KINGDOM
South Glamorgan
CARDIFF
Molecular cytogenetic diagnosis of Williams syndrome (by conventional karyotype and FISH analysis)
University Hospital of Wales
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SWITZERLAND
Suisse Alémanique
ZÜRICH
Cytogenetics diagnosis of Williams syndrome (del 7q11)
Genetica AG
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
BRETAGNE
RENNES
Diagnosis of microdeletions and microduplications (by array-CGH)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
GRAND-EST
STRASBOURG
Diagnosis of Robertsonian and reciprocal translocations, other chromosomal anomalies and X-linked diseases
Hôpitaux Universitaires de Strasbourg - HUS
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
AUVERGNE-RHONE-ALPES
BRON
Diagnosis of microdeletion syndromes and chromosomal imbalances (by FISH and array-CGH)
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Bayern
MÜNCHEN
Diagnosis of Williams syndome (ELN, LINK1 genes)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques
IRELAND
County Dublin
DUBLIN
Molecular cytogenetic diagnosis of Williams syndrome (by conventional karyotype and FISH analysis)
Children's Health Ireland @ Crumlin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Rheinland-Pfalz
MAINZ
MLPA analysis of microdeletion syndrome regions
Universitätsmedizin der Johannes Gutenberg-Universität Mainz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis mlpa based techniques
UNITED KINGDOM
Merseyside
LIVERPOOL
Molecular cytogenetic diagnosis of Williams syndrome (by FISH analysis)
Liverpool Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FINLAND
Finland
TAMPERE
Molecular cytogenetic diagnosis of Williams syndrome
FIMLab Laboratories
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Nordrhein-Westfalen
DORTMUND
Diagnosis of Williams syndome
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Deletion / Duplication analysis mlpa based techniques
GERMANY
Bayern
MÜNCHEN
Diagnosis of rare syndromic intellectual disability (NGS screening panel: 640 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis ngs sequencing (except wes)
GERMANY
Bayern
MÜNCHEN
Diagnosis of microdeletion and microduplication syndromes by FISH and array CGH
Medizinisch Genetisches Zentrum München
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
PAYS DE LA LOIRE
SAINT-HERBLAIN
Diagnosis of Williams syndrome (FISH analysis at locus 7q11.2)
CYTOGEN
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of microdeletion syndromes (array-CGH)
CHU de Nice - Hôpital l'Archet 2
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis pangenomic of constitutional anomalies by molecular cytogenetic (FISH) and CGHarrays
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Bayern
WÜRZBURG
Microdeletion screening by MLPA
Universität Würzburg - Biozentrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis mlpa based techniques
FRANCE
OCCITANIE
MONTPELLIER
Diagnosis of Williams syndrome (by FISH)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
OCCITANIE
MONTPELLIER
Diagnosis of microdeletions/microduplications by array-CGH
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
CENTRE-VAL DE LOIRE
TOURS
FISH analyses of microdeletions / microduplications
CHRU de Tours - Hôpital Bretonneau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
BRETAGNE
BREST
Diagnosis of Williams-Beuren syndrome (FISH analysis)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
BRETAGNE
BREST
Diagnosis of cryptic subtelomere rearrangements (FISH analysis)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
NORMANDIE
ROUEN
Diagnosis of uniparental disomies of chromosomes 14 and 15
CHU de Rouen
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Uniparental disomy study, Deletion / Duplication analysis mlpa based techniques, microsatellite analysis
FRANCE
ILE-DE-FRANCE
POISSY
Diagnosis of microdeletion syndromes
Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SWEDEN
Region Östergötland
LINKÖPING
Diagnosis of microdeletion syndromes (genome-wide SNP array)
Universitetssjukhuset i Linköping
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
UNITED KINGDOM
Avon
BRISTOL
Molecular cytogenetic diagnosis of Williams syndrome (FISH analysis at locus 7q11.2)
Southmead Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
UNITED KINGDOM
Norfolk
NORWICH
Diagnosis of Williams syndrome (FISH analysis at locus 7q11.2)
Norfolk and Norwich University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
UNITED KINGDOM
Cambridgeshire
ST NEOTS
Molecular cytogenetic diagnosis of Williams syndrome (FISH analysis)
The Aplastic Anaemia Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
GERMANY
Baden-Württemberg
MANNHEIM
Diagnosis of Williams syndrome
Zentrum für Humangenetik Mannheim
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Bayern
MÜNCHEN
Diagnosis of microdeletion and microduplication syndromes by array CGH
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Bayern
MÜNCHEN
Diagnosis of Williams-Beuren syndrome
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
NETHERLANDS
Gelderland
NIJMEGEN
Diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Sachsen
DRESDEN
Diagnosis of Williams-Beuren syndrome (ELN gene: sequencing, MLPA)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa 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, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test, Deletion / Duplication analysis ngs sequencing (except wes)
NETHERLANDS
Gelderland
NIJMEGEN
Diagnosis in case of Intellectual Disability and Multipele Congenital Anomalies (SNP-based array or NGS sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test, Deletion / Duplication analysis ngs sequencing (except wes)
NETHERLANDS
Gelderland
NIJMEGEN
Molecular diagnosis of Movement Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
NETHERLANDS
Gelderland
NIJMEGEN
Molecular diagnosis of Intellectual Disability (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
GERMANY
Nordrhein-Westfalen
BOCHUM
Diagnosis of microdeletion and microduplication syndromes by array CGH
Ruhr-Universität Bochum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test
GERMANY
Nordrhein-Westfalen
BONN
Diagnosis of microdeletion and microduplication syndromes by array CGH
Universitätsklinikum Bonn (AöR)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Madrid
ALCALÁ DE HENARES
Diagnosis of Williams syndrome (7q11.23)
Hospital Universitario Príncipe de Asturias
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of Williams syndrome (ELN gene)
CHU de Nice - Hôpital l'Archet 2
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of microdeletion/ microduplication syndromes (by array)
APHP - HUPC - Site Cochin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Baden-Württemberg
TÜBINGEN
Diagnosis of genetic skeletal disorders (NGS Panel screening)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)
GERMANY
Nordrhein-Westfalen
KÖLN
Diagnosis of rare genetic intellectual disability (NGS screening panel: ~2500 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of chromosomal abnormalities (molecular karyotype)
Centre de Génétique Humaine - UCL. Cliniques universitaires Saint-Luc
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test
BELGIUM
LIEGE
LIEGE
Diagnosis of chromosomal abnormalities (cytogenetic analyses; karyotype, FISH, microarrays)
CHU de Liège - UniLab Lg
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of chromosomal abnormalities (molecular karyotype, CGH-array analysis)
Hôpital Universitaire de Bruxelles (H.U.B) - Site Hôpital Erasme
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
CANADA
Ontario
MISSISSAUGA
Molecular Cytogenetic Diagnosis of Microdeletion/Microduplication Syndrome
Trillium Health Partners- Credit Valley Site
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Nordrhein-Westfalen
AACHEN
Cytogenetic lab for conventional and molecular cytogenetic chromosome analysis
Universitätsklinikum Aachen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Berlin
BERLIN
Diagnosis of bone and skeletal diseases (NGS Screening Panel: 408 genes)
Labor Berlin - Charité Vivantes GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), whole exome sequencing (wes)
GERMANY
Bayern
MÜNCHEN
Diagnosis of rare genetic renal disease (NGS screening panel: 211 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis ngs sequencing (except wes)
BELGIUM
ANTWERPEN
ANTWERPEN-EDEGEM
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Centrum Medische Genetica - UZA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
FRANCE
GRAND-EST
STRASBOURG
Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of intellectual disability (Panel)
Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test
CANADA
Ontario
MISSISSAUGA
Molecular Cytogenetic Diagnosis of Williams Syndrome (FISH ELN)
Trillium Health Partners- Credit Valley Site
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
IRELAND
County Dublin
DUBLIN
Molecular cytogenetic diagnosis of Williams-Beuren (by FISH analysis)
Children's Health Ireland @ Crumlin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
AUSTRIA
TIROL
INNSBRUCK
Molecular diagnosis of uniparental disomy (7, 14, 15)
Medizinische Universität Innsbruck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Uniparental disomy study microsatellite analysis
AUSTRIA
TIROL
INNSBRUCK
Molecular cytogenetic diagnosis of Williams-Beuren syndrome
Medizinische Universität Innsbruck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
BRETAGNE
BREST
Diagnosis of intellectual disability (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
FRANCE
CENTRE-VAL DE LOIRE
TOURS
Diagnosis of intellectual disability (Panel)
CHRU de Tours - Hôpital Bretonneau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
SPAIN
Madrid
MAJADAHONDA
Diagnosis of rare genetic intellectual disability
Instituto de Salud Carlos III. Campus de Majadahonda
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
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)
: Chromosomal genetics (including cytogenetics)
UNITED KINGDOM
Greater Manchester
MANCHESTER
Molecular cytogenetic diagnosis of Williams syndrome (by array or FISH analysis)
St Mary's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of chromosomal anomalies (Array CGH by DNA-SNP chips)
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
NETHERLANDS
Gelderland
NIJMEGEN
Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
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 intellectual disability and psychiatric disorders (Panel)
AP-HP.Centre - Université de Paris - Hôpital Cochin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
FRANCE
OCCITANIE
MONTPELLIER
Chromosomal Microarray Analysis (CMA)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
OCCITANIE
MONTPELLIER
Diagnosis of chromosomal anomalies
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SWITZERLAND
Suisse Alémanique
BERN
Diagnosis of Williams syndrome
Universitätsspital Inselspital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
AUVERGNE-RHONE-ALPES
GRENOBLE
Diagnosis of microdeletion microduplication syndromes
CHU Grenoble Alpes
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SWITZERLAND
Suisse Italienne
BREGANZONA
Diagnosis of Williams syndrome
Unilabs Ticino - LAS
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of intellectual disability and/or epilepsy (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
SPAIN
Murcia
EL PALMAR
Diagnosis of Williams syndrome
Centro de Bioquímica y Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
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
Service(s)
: Targeted gene test, Sequence analysis: entire coding region whole exome sequencing (wes)
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of 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
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of rare genetic syndromic intellectual disability (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
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 neurodevelopmental disorders (gene panel)
Hôpital Universitaire de Bruxelles (H.U.B) - Site Hôpital Erasme
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of rare forms of neurodevelopmental disorders (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)
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of intellectual disabilities (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Targeted gene test, Sequence analysis: entire coding region whole exome sequencing (wes)
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of developmental abnormalities and intellectual disability (Whole exome)
Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
FRANCE
BRETAGNE
BREST
Diagnosis of intellectual disability (Whole exome)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
FRANCE
CENTRE-VAL DE LOIRE
TOURS
Diagnosis of intellectual disability (Whole exome)
CHRU de Tours - Hôpital Bretonneau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region 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)
SWITZERLAND
Suisse Alémanique
SCHLIEREN
Preimplantation genetic testing for aneuploidies (PGT-A)
Universität Zürich
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
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
BRETAGNE
RENNES
Diagnosis of neurodevelopmental disorders (Whole exome)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
FRANCE
PAYS DE LA LOIRE
NANTES
Diagnosis of intellectual disability (Whole exome)
CHU de Nantes - Institut de Biologie
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
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of nephropathies (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
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of malformation syndrome with short stature (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
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of genetic malformation syndrome with short stature (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
VANDOEUVRE-LÈS-NANCY
Diagnosis of multiple congenital anomalies with intellectual disability (Clinical exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
FRANCE
GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of intellectual disability (Clinical exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
GERMANY
Bayern
MÜNCHEN
Diagnosis of Intellectual Disability (NGS panel: 375 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
FRANCE
ILE-DE-FRANCE
LE CHESNAY
Diagnosis of intellectual deficiency and congenital malformation (cryptic subtelomeric and intercalated anomalies by array CGH)
CH de Versailles - Hôpital André Mignot
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of intellectual disability (Whole Exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
GERMANY
Bayern
MÜNCHEN
Diagnosis of rare genetic renal disease (NGS panel: 615 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Williams syndrome (ELN gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
HAUTS-DE-FRANCE
AMIENS
Chromosomal Microarray Analysis (CMA)
CHU Amiens-Picardie - Site Sud
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
GRAND-EST
METZ
Diagnosis of rare intellectual disability of genetic origin
CHR de Metz-Thionville
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test, Methylation analysis array based techniques
FRANCE
GRAND-EST
METZ
Diagnosis of rare syndromic intellectual disability of genetic origin
CHR de Metz-Thionville
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test, Methylation analysis array based techniques
SWITZERLAND
Suisse Alémanique
BASEL
Diagnosis of intellectual disability 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)
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)
SWITZERLAND
Suisse Alémanique
BASEL
Diagnosis of Williams syndrome (7q11 del)(FISH)
Universitätsspital Basel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Rheinland-Pfalz
MAINZ
Diagnosis of Williams-Beuren syndrome
Zweigpraxis des MVZ der Universitätsmedizin Mainz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
NORWAY
Vestlandet
BERGEN
Molecular cytogenetics diagnosis of Williams-Beuren syndrome
Haukeland University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
CANADA
Terre-Neuve-et-Labrador
ST. JOHN'S
Molecular Cytogenetic Diagnosis of Williams Syndrome (mFISH ELN probe analysis)
Health Sciences Centre
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
CANADA
Ontario
HAMILTON
Molecular Cytogenetic Diagnosis of Williams Syndrome (FISH Analysis)
McMaster University Medical Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
CANADA
Ontario
HAMILTON
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
McMaster University Medical Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
CANADA
Ontario
TORONTO
Molecular Cytogenetic Diagnosis of Williams Syndrome (FISH ELN)
The Hospital for Sick Children
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
CANADA
Ontario
TORONTO
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
The Hospital for Sick Children
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
CANADA
Ontario
OTTAWA
Molecular Cytogenetic Diagnosis of Williams Syndrome (FISH ELN)
Children's Hospital of Eastern Ontario
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
CANADA
Ontario
OTTAWA
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
Children's Hospital of Eastern Ontario
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
CANADA
Ontario
TORONTO
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (SNP Array)
North York General Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
CANADA
Ontario
TORONTO
Molecular Cytogenetic Diagnosis of Williams Syndrome (FISH ELN)
North York General Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
BOURGOGNE-FRANCHE-COMTE
DIJON
Diagnosis of Williams syndrome
CHU de Dijon - Plateau technique de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
NOUVELLE AQUITAINE
BORDEAUX
Diagnosis of Williams syndrome
CHU de Bordeaux-GH Pellegrin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
BRETAGNE
RENNES
Diagnosis of Williams syndrome
CHU de Rennes - Hôpital Pontchaillou
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
PAYS DE LA LOIRE
NANTES
Diagnosis of Williams syndrome
CHU de Nantes - Institut de Biologie
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LIGURIA
GENOVA
Molecular cytogenetics diagnosis of Williams syndrome
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LAZIO
ROMA
Molecular cytogenetics diagnosis of Williams syndrome
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
MONZA
Molecular cytogenetics diagnosis of Williams syndrome
Fondazione IRCCS San Gerardo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
TOSCANA
PISA
Diagnosis of Williams syndrome
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques
ITALY
LAZIO
ROMA
Cytogenetic and molecular diagnosis of Williams syndrome
Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
CREMONA
Diagnosis of Williams syndrome
ASST Cremona
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LAZIO
ROMA
Molecular cytogenetics diagnosis of Williams syndrome
Istituto CSS-Mendel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
CUSANO MILANINO
Molecular cytogenetics diagnosis of Williams syndrome
Istituto Auxologico Italiano
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LAZIO
ROMA
Molecular cytogenetics diagnosis of Williams syndrome
ASLRM1 - Centro per la tutela della Salute della Donna e del Bambino
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LAZIO
ROMA
Diagnosis of Williams syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Cataluña
SABADELL
Diagnosis of Williams syndrome
Parc Taulí Hospital Universitari. Centre de Medicina Genòmica
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
FRIULI VENEZIA GIULIA
PORDENONE
Diagnosis of Williams syndrome
Azienda Sanitaria Friuli Occidentale - Presidio Santa Maria degli Angeli
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
LEGNANO
Molecular cytogenetics diagnosis of Williams syndrome
Azienda Ospedaliera- Ospedale Civile di Legnano
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
MILANO
Postnatal molecular cytogenetics diagnosis of Williams syndrome (FISH analysis)
Università degli Studi di Milano - Biologia e Genetica per le Scienze Mediche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
TOSCANA
SIENA
Diagnosis of Williams syndrome
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
MARCHE
ANCONA
Molecular cytogenetics diagnosis of Williams syndrome
Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
SARDEGNA
CAGLIARI
Molecular diagnosis of Williams syndrome
Ospedale Regionale per le Microcitemie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
ITALY
LAZIO
ROMA
Molecular cytogenetics diagnosis of Williams syndrome
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
VENETO
SARMEOLA DI RUBANO
Molecular cytogenetics diagnosis of Williams syndrome
Laboratorio Analisi CITOTEST
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
VARESE
Molecular cytogenetic diagnosis of Wiliams syndrome
A.O.U. Ospedale di Circolo e Fondazione Macchi - Università dell'Insubria
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
BERGAMO
Molecular cytogenetics diagnosis of Williams syndrome
ASST Papa Giovanni XXIII
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
PAVIA
Molecular cytogenetics diagnosis of Williams syndrome
Università degli Studi di Pavia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Galicia
SANTIAGO DE COMPOSTELA
Diagnosis of Williams syndrome (region 7q11.23)
Complejo Hospitalario Universitario de Santiago
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Uniparental disomy study microsatellite analysis
ITALY
VENETO
VENEZIA
Molecular cytogenetics diagnosis of Williams syndrome
Ospedale Civile S.S. Giovanni e Paolo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
MILANO
Molecular cytogenetics diagnosis of Williams syndrome
ASST Santi Paolo e Carlo, Ospedale San Paolo - Università degli Studi di Milano
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
EMILIA ROMAGNA
FERRARA
Molecular cytogenetics diagnosis of Williams syndrome
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Andalucía
SEVILLA
Diagnosis of Williams syndrome (7q11.23 region)
Hospital Universitario Virgen del Rocío
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test
AUSTRIA
OBERÖSTERREICH
LINZ
Molecular cytogenetic diagnosis of Williams Beuren syndrome
Kepler Universitätsklinikum - Med Campus IV.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
PIEMONTE
TORINO
Cytogenetics molecular diagnosis of Williams-Beuren syndrome with FISH
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
SAN FERMO DELLA BATTAGLIA
Molecular cytogenetic diagnosis of Williams syndrome
ASST Lariana - Ospedale S.Anna di Como
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
AUSTRIA
WIEN
WIEN
Molecular diagnosis of Williams-Beuren syndrome (SALSA MLPA KIT P029-A1)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Methylation analysis, Deletion / Duplication analysis mlpa based techniques
GERMANY
Baden-Württemberg
STUTTGART
Diagnosis of Williams syndrome (ELN gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Deletion / Duplication analysis mlpa based techniques
SPAIN
Aragón
ZARAGOZA
Diagnosis of Williams syndrome
Hospital Universitario Miguel Servet
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis mlpa based techniques
SPAIN
Madrid
MADRID
Diagnosis of Williams syndrome
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Deletion / Duplication analysis mlpa based techniques
SPAIN
Cataluña
BARCELONA
Diagnosis of chromosomal anomalies (SNP array)
DiNA Science
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics, Other
Service(s)
: Targeted gene test
FRANCE
ILE-DE-FRANCE
LE BLANC MESNIL
Diagnosis of Williams syndrome
Laboratoire d'analyses médicales Clément
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
GRAND-EST
EPINAL
Diagnosis of Williams syndrome
Analysis - Laboratoire Lefaure & Petit
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
BUSTO ARSIZIO
Molecular cytogenetic diagnosis of Williams syndrome
Toma Advanced Biomedical Assays S.p.A.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
TOSCANA
FIRENZE
Molecular cytogenetic diagnosis of Williams syndrome
Azienda Ospedaliera Universitaria Anna Meyer I.R.C.C.S.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LAZIO
ROMA
Molecular genetic diagnosis of cryptic rearrangements by array-CGH
Istituto CSS-Mendel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test
ITALY
LAZIO
ROMA
Molecular genetic diagnosis of criptic rearrangements by array-CGH
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test
ITALY
VENETO
VICENZA
Molecular cytogenetic diagnosis of Williams syndrome
Azienda ULSS8 "Berica"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
PIEMONTE
TORINO
Molecular genetic diagnosis of genomic microdeletions-duplications by CGH-array
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Deletion / Duplication analysis
GERMANY
Hessen
GIEßEN
Diagnosis of Williams syndrome
Institut für Humangenetik des UKGM am Standort Gießen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Hamburg
HAMBURG
Diagnosis of Williams syndome
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Targeted gene test, Uniparental disomy study, Methylation analysis mlpa based techniques, microsatellite analysis
GERMANY
Bayern
NÜRNBERG
Diagnosis of Williams-Beuren syndrome
Medizinisches Versorgungszentrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Andalucía
MÁLAGA
Diagnosis of Williams syndrome type 1 (ELN, LIMK1 genes)
Health in Code. Málaga
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), sanger sequencing, mlpa based techniques
FRANCE
ILE-DE-FRANCE
CLICHY
Diagnosis of microdeletion syndromes
Laboratoire Eylau Unilabs Clichy
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
PAYS DE LA LOIRE
NANTES
Array-CGH analyses of microdeletions and microduplications
CHU de Nantes - Institut de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
BRETAGNE
RENNES
Diagnosis of microdeletions and microduplications (Array-CGH)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SWEDEN
Region Skåne
LUND
Diagnosis of Williams syndrome (FISH at the ELN locus)
Skånes Universitetssjukhus -Klinisk Genetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of Williams syndrome and supravalvular aortic stenosis (ELN, LIMK1 genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques
POLAND
Warszawa
WARSZAWA
Cytogenetic diagnosis of constitutional chromosomal abnormalities (microdeletion/ microduplication syndromes by FISH, MLPA, array CGH: MLPA kits P245, P297, P036)
Instytut Matki i Dziecka
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Sachsen
DRESDEN
Diagnosis of microdeletion and microduplication syndromes by MLPA
Gemeinschaftspraxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis mlpa based techniques
SPAIN
Madrid
MADRID
Diagnosis of Williams syndrome (ELN gene)
Hospital Clínico San Carlos
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Deletion / Duplication analysis mlpa based techniques
SPAIN
Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of Williams syndrome
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Berlin
BERLIN
Diagnosis of microdeletion and microduplication syndromes by array CGH
Labor Medicover Humangenetik Berlin Lichtenberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Comunidad Valenciana
PATERNA
Diagnosis of Williams syndrome (ELN gene)
Igenomix Spain
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted gene test
SPAIN
Castilla - León
SALAMANCA
Diagnosis of chromosomal abnormalities
Centro de Investigación del Cáncer (USAL-CSIC)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test, Deletion / Duplication analysis ngs sequencing (except wes)
SPAIN
La Rioja
LOGROÑO
Diagnosis of Williams syndrome (ELN gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis mlpa based techniques
SPAIN
Cataluña
BARCELONA
Diagnosis of Williams syndrome
Hospital Universitari Vall d'Hebron
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of uniparental disomy of chromosome 14 (methylation of 14q32 region; MEG3 and DLK1 genes)
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Methylation analysis mlpa based techniques
FRANCE
PAYS DE LA LOIRE
NANTES
Diagnosis of Robertsonian and reciprocal translocations
CHU de Nantes - Institut de Biologie
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Comunidad Valenciana
ALICANTE
Diagnosis of chromosomal anomalies (Detection of chromosome alterations large in size, array based techniques)
Centro Médico V76
Purpose(s)
: Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Other
ITALY
SICILIA
AVOLA
Diagnosis of Williams syndrome
Laboratori Campisi s.r.l.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
CANADA
Alberta
EDMONTON
Molecular Diagnosis of Williams-Beuren/7q11.23 Microduplication Syndromes
University of Alberta
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis pcr based techniques
CANADA
Alberta
EDMONTON
Molecular Diagnosis of Maternal or Paternal Uniparental Disomy 14
University of Alberta
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Uniparental disomy study microsatellite analysis
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies
Universitair Ziekenhuis Brussel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics), Biochemical analysis
Service(s)
: Array test, Deletion/duplication test, Gene panel test, Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, pcr based techniques, mlpa based techniques, whole exome sequencing (wes)
ITALY
EMILIA ROMAGNA
MODENA
Molecular cytogenetics diagnosis of Williams syndrome (determined by Prenatal BoBs)
TEST s.r.l.
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
VENETO
LIMENA
Molecular diagnosis of microdeletion/microduplication syndromes (determined by array-CGH)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
POLAND
Gdansk
GDANSK
PGS-NGS 360°?. Preimplantation Genetic Screening
INVICTA Sp. z o.o.
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of neural tube closure defect (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
HUNGARY
Közép-Magyarország
DEBRECEN
Molecular cytogenetic diagnosis of Williams syndrome
University of Debrecen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
País Vasco
SAN SEBASTIÁN
Diagnosis of Williams syndrome
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis mlpa based techniques
SPAIN
Comunidad Valenciana
ELCHE
Diagnosis of Williams syndrome (panel)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
ITALY
LOMBARDIA
PAVIA
Diagnosis of multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Microgenomics S.r.l.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Cataluña
TERRASSA
Diagnosis of Williams syndrome (7q11.23 region)
Consorci Sanitari de Terrassa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test, Deletion / Duplication analysis mlpa based techniques
SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of genetic cardiac anomaly (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of idiopathic intellectual disability, autism, growth delay, and / or multiple congenital anomalies (qChip« Post)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of congenital disorder of glycosylation (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of hyperlaxity (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of intellectual disability (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of vasculopathy (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of Ehlers-Danlos syndrome (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of rare diseases with defects in DNA-repair (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Deletion / Duplication analysis ngs sequencing (except wes)
ITALY
EMILIA ROMAGNA
FERRARA
Diagnosis of chromosomal anomalies
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Baleares
PALMA DE MALLORCA
Diagnosis of Williams syndrome
Hospital Universitari Son Espases
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
FRANCE
BOURGOGNE-FRANCHE-COMTE
DIJON
Diagnosis of developmental abnormalities and intellectual disability - Neurodegenerative and sensory diseases(Whole exome)
CHU de Dijon - Plateau technique de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)
SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of cardiac anomalies (Panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)
SPAIN
Comunidad Valenciana
ALICANTE
Diagnosis of Williams-Beuren syndrome
Hospital General Universitario Dr. Balmis de Alicante
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Extremadura
BADAJOZ
Diagnosis of rare genetic intellectual disability
Hospital Universitario de Badajoz
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test, Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (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)
: Array test, Deletion/duplication test, Sequence analysis: entire coding region ngs sequencing (except wes), 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)
ITALY
VENETO
BELLUNO
Molecular cytogenetics diagnosis of Williams syndrome
IRCCS Ospedale Policlinico San Martino
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
PUGLIA
SAN GIOVANNI ROTONDO
Diagnosis of Williams syndrome
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Deletion / Duplication analysis mlpa based techniques
ITALY
PUGLIA
LECCE
Molecular cytogenetics diagnosis of Williams syndrome
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
EMILIA ROMAGNA
IMOLA
Cytogenetics diagnosis of Williams syndrome
AUSL di Imola
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
EMILIA ROMAGNA
BOLOGNA
Molecular cytogenetics diagnosis of Williams syndrome
IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
CAMPANIA
NAPOLI
Molecular cytogenetics diagnosis of Williams syndrome
Azienda Ospedaliera Universitaria "Federico II"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
SARDEGNA
SASSARI
Molecular cytogenetics diagnosis of Williams syndrome
Università degli Studi di Sassari
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
VENETO
VERONA
Molecular cytogenetics diagnosis of Williams syndrome (ELN gene)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LAZIO
ROMA
Molecular cytogenetics diagnosis of Williams syndrome
Azienda Ospedaliera San Giovanni Addolorata
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Madrid
MÓSTOLES
Diagnosis of Williams syndrome
Hospital Universitario de Móstoles
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
CALABRIA
CATANZARO
Molecular cytogenetic diagnosis of Williams syndrome
Azienda Ospedaliera Pugliese Ciaccio
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
BRESCIA
Molecular cytogenetics diagnosis of Williams syndrome
Università degli Studi di Brescia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
VENETO
PADOVA
Molecular cytogenetics diagnosis of Williams syndrome
Azienda Ospedaliera di Padova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
LOMBARDIA
SESTO SAN GIOVANNI
Molecular cytogenetics diagnosis of Williams syndrome
Presidio Ospedaliero "Città di Sesto San Giovanni"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Canarias
LA CUESTA
Diagnosis of Williams syndrome (7q11.23)
Hospital Universitario de Canarias
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Galicia
A CORUÑA
Diagnosis of Williams syndrome
Hospital Materno-Infantil Teresa Herrera
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
PUGLIA
CARBONARA DI BARI
Molecular genetic diagnosis of cryptic intrachromosomal and subtelomeric rearrangement by array-CGH
Ospedale di Venere - ASL Bari
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test
ITALY
SICILIA
TROINA
Cytogenetics molecular diagnosis of Williams syndrome
IRCCS OASI Maria Santissima
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
CAMPANIA
NAPOLI
Molecular cytogenetics diagnosis of Williams syndrome
P.S.I. "Elena d'Aosta"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
SICILIA
PALERMO
Cytogenetics diagnosis of Williams syndrome
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Hessen
BAD NAUHEIM
Diagnosis of Williams syndrome
Zweigniederlassung der SYNLAB MVZ Kassel GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Bayern
BAD STEBEN
Diagnosis of Williams syndrome
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
FRIULI VENEZIA GIULIA
TRIESTE
Molecular cytogenetic diagnosis of Williams syndrome
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
EMILIA ROMAGNA
REGGIO EMILIA
Molecular cytogenetic diagnosis of Williams syndrome
AUSL IRCCS Arcispedale Santa Maria Nuova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
CALABRIA
REGGIO CALABRIA
Molecular diagnosis of Williams syndrome
Azienda Ospedaliera BMM
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
ITALY
UMBRIA
PERUGIA
Molecular cytogenetic diagnosis of Williams syndrome
Azienda Ospedaliera di Perugia - Centro di Ricerca Emato-Oncologica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Rheinland-Pfalz
KAISERSLAUTERN
Diagnosis of Williams-Beuren syndrome
Med-Biolog-Labor
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
TOSCANA
GROSSETO
Cytogenetic diagnosis of Williams syndrome
Ospedale "La Misericordia"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
Service(s)
: Detection of chromosome alterations large in size karyotyping
ITALY
LOMBARDIA
MILANO
Molecular cytogenetic diagnosis of Williams-Beuren syndrome
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
CAMPANIA
NAPOLI
Molecular cytogenetic diagnosis of Williams syndrome
Azienda Ospedaliera "A. Cardarelli"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Nordrhein-Westfalen
BONN
Diagnosis of Williams syndrome (MLPA)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis mlpa based techniques
ITALY
SICILIA
TROINA
Molecular cytogenetic diagnosis of Williams syndrome
IRCCS OASI Maria Santissima
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
GERMANY
Nordrhein-Westfalen
BONN
Diagnosis of microdeletion and microduplication syndromes by array CGH
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
CANADA
Alberta
CALGARY
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
Alberta Children's Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test
CANADA
Alberta
CALGARY
Molecular Cytogenetic Diagnosis of Williams Syndrome (mFISH ELN probe analysis)
Alberta Children's Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
POLAND
Wroclaw
WROCLAW
Molecular cytogenetic diagnosis of Williams syndrome (FISH)
Przychodnia Fundacji Uniwersytetu Medycznego we Wroclawiu
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
ITALY
PUGLIA
GROTTAGLIE
Antenatal and postnatal molecular cytogenetic diagnosis of Williams syndrome (determined by FISH)
Presidio Ospedaliero Centrale - Ospedale "San Marco"
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
SPAIN
Madrid
MADRID
Diagnosis of Williams-Beuren Syndrome
ISCIII - Instituto de Salud Carlos III
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Chromosomal genetics (including cytogenetics)
PORTUGAL
NORTE
PORTO
Mental retardation, X-linked syndromic, Lubs type (gene MECP2)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis pcr based techniques, mlpa based techniques
PORTUGAL
NORTE
PORTO
Diagnosis of uniparental disomy of chromosome 14
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Methylation analysis mlpa based techniques
PORTUGAL
NORTE
PORTO