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FRANCE

GRAND-EST
STRASBOURG

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular diagnosis of Angelman syndrome (15q11 region, UBE3A gene; NGS)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Molecular diagnosis of Angelman syndrome (15q11 region, UBE3A gene)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Molecular cytogenetics diagnosis of Angelman syndrome
Laboratoire de biologie médicale GEN-BIO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Molecular cytogenetics diagnosis of Angelman syndrome
GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

GRAND-EST
REIMS

Accreditation
Molecular cytogenetics and molecular diagnosis of Angelman syndrome (UBE3A gene ; methylation study of SNRPN locus by PCR)
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Preimplantation and postnatal cytogenetic diagnosis of Angelman syndrome (FISH analysis of UBE3A gene)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

FRANCE

NORMANDIE
ROUEN

Accreditation
Molecular diagnosis of Angelman syndrome
Faculté de médecine et de pharmacie de Rouen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Molecular cytogenetics and molecular diagnosis of Angelman syndrome (SNRPN gene)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Molecular cytogenetics diagnosis of Angelman syndrome
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

ITALY

SICILIA
CATANIA

Accreditation
Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
LABOGEN S.a.S.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Accreditation
Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
CUSANO MILANINO

Accreditation
Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

TOSCANA
FIRENZE

Accreditation
Antenatal and postnatal molecular cytogenetics diagnosis of Prader-Willi/Angelman (uniparental disomy studies, methylation analysis and FISH of SNRP gene)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Berlin
BERLIN

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A and SNRPN genes)
Charité - Universitätsmedizin Berlin (CVK)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
ESSEN

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene: MS-MLPA, microsatellites)
Universitätsklinikum Essen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (SNRPN gene)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A and SNRPN genes)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene: sequencing, methylation analysis, MLPA)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, FISH

SPAIN

Cataluña
BARCELONA

Accreditation
Molecular diagnosis of Angelman syndrome. UBE3A gene
Laboratorio de Análisis Dr. Echevarne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Angelman syndrome (SNRPN, UBE3A genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Whole Exome Sequencing (WES)

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome (SNRPN, UBE3A genes)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis of Angelman syndrome (MS-MLPA)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular and molecular cytogenetics diagnosis of Angelman syndrome (karyotyping; FISH; methylation sensitive MLPA; microarray; entire coding region UBE3A gene/ MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, FISH, Karyotyping

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of Angelman syndrome
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
OULU

Accreditation
Molecular cytogenetics and molecular diagnosis of Angelman syndrome
Oulu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Angelman syndrome (15q11-13)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
Center for Medical Genetics Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular Diagnosis of Angelman syndrome (UBE3A gene)
CHU de LIEGE - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular cytogenetics diagnosis (FISH) of Angelman syndrome
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular Diagnosis of Angelman syndrome (UBE3A gene)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Molecular (methylation-sensitive MLPA) and molecular cytogenetic diagnosis of Angelman syndrome
Heinrich-Heine-Universität Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular diagnosis of Angelman syndrome (including UBE3A analysis)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Lanarkshire
GLASGOW

Accreditation
Molecular diagnosis of Angelman syndrome (by methylation specific PCR, diagnosis by using markers outside the AS region and sequencing of UBE3A)
Southern General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : PCR based techniques

AUSTRIA

STEIERMARK
GRAZ

Accreditation
Molecular diagnosis of Angelman syndrome (SNRPN gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Search for uniparental disomy (chromosomes 6, 7, 11, 14, 15 and/or 20)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (SNRPN and UBE3A genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Angelman syndrome (15q11-13 and NIP2 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of uniparental disomy of chromosomes 2, 5-9, 11, 13-16, 18 and 22
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Angelman syndrome (Methylation-specific MLPA of the SNPRN gene, 15q11-q13, UPD and deletion analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Angelman syndrome (15q11-q13: by methylation and microsatellite analysis)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

GERMANY

Hessen
BAD NAUHEIM

Accreditation
Molecular diagnosis of Angelman syndrome (methylation status / complete sequencing of the UB3A gene)
Zweigniederlassung der SYNLAB MVZ Kassel GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, BS-Pyrosequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A and SNRPN genes: sequencing/MLPA/methylation status)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of uniparental disomy (7, 11, 14, 15, X, Y) by microsatellite analysis
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
Medizinische Versorgungszentrum Dr.Stein + Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome (by conventional karyotype and FISH analysis)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular diagnosis of uniparental disomy (chromosome 7, 14, 15)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of Angelman syndrome (methylation UBE3A gene)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of Angelman syndrome
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of Uniparental Disomy (any chromosome)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

IRELAND

County Dublin
DUBLIN

Accreditation
Molecular Diagnosis of Angelman Syndrome (critical region)
National Centre for Medical Genetics
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Angelman Syndrome (UBE3A gene and SNRPN methylation analysis (PCR based techniques))
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Angelman Syndrome (methylation 15q11-q13 and UBE3A gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Asturias
OVIEDO

Accreditation
Diagnosis of Angelman syndrome
Hospital Universitario Central de Asturias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Murcia
EL PALMAR

Accreditation
Diagnosis of Angelman syndrome
Centro de Bioquímica y Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Angelman syndrome (SNRPN gene)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Angelman Syndrome (UBE3A gene and SNRPN methylation)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of Angelman syndrome (SNRPN gene)
Institut für Klinische Genetik Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular diagnosis of uniparental disomyof chromosomes 14, 15 and 16
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Angelman syndrome (SNRPN gene: Targetted mutation analysis / Gene tracking)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Angelman syndrome (MS-MLPA of region 15q11-13 and UBE3A mutation screening by sequencing)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Uniparental disomy study
Technique(s) : MLPA based techniques

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Molecular cytogenetics diagnosis (FISH) of Angelman syndrome
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular diagnosis of Angelman syndrome
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of uniparental disomy of chromosomes 6, 7, 11, 14, 15
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene: sequencing/MLPA, methylation status/MLPA of region15q11.2-q13)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular diagnosis of Angelman Syndrome (Methylation analysis, UPD15 and UBE3A gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Angelman syndrome
Praxisgemeinschaft für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome (by conventional karyotype and FISH analysis)
The Doctors Laboratory Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of Prader-Willi syndrome/Angelman syndrome (methylation status of SNRPN promoter, MLPA)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of uniparental disomy (6, 7, 14, 15) by microsatellite analysis
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
MLPA analysis of microdeletion syndrome regions
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome (by FISH analysis)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FINLAND

Finland
HELSINKI

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome (FISH at 15q11-q13 locus)
Yhtyneet Medix Laboratoriot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

FINLAND

Finland
TAMPERE

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome by FISH
FIMLab Laboratories
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GERMANY

Sachsen
LEIPZIG

Accreditation
Molecular diagnosis of Angelman syndrome (methylation status SNRPN gene, MECP2: MLPA)
MVZ Labor Dr. Reising-Ackermann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of uniparental disomy of chromosomes 2, 7, 11, 14, 15, 16
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GREECE

ATTIKI
ATHENS

Accreditation
Molecular diagnosis of Angelman syndrome (methylation analysis by RFLP)
BioAnalytica-GenoType SA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of microdeletion and microduplication syndromes by FISH and array CGH
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome (by FISH analysis)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Angelman Syndrome (15q11-q13 and UBE3A gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene: sequencing / MLPA)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES

Accreditation
Molecular diagnosis of Angelman Syndrome
Université Catholique de Louvain - UCL
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Molecular diagnosis of Prader-Willi and Angelman syndromes (methylation defects at SNRPN locus and UBE3A gene mutations)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Prader-Willi syndrome/Angelman syndrome (methylation status)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A and SNRPN genes)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Diagnostic of Angelman and Prader-Willi syndromes (UBE3A and SNRPN genes)
Eurofins Biomnis
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Angelman Syndrome (by MS-MLPA and UPD analysis)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

AUSTRIA

OBERÖSTERREICH
LINZ

Accreditation
Molecular diagnosis of Prader-Willi/Angelman syndromes (15q11 region)
Krankenhaus der Barmherzigen Schwestern Linz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
Synlab Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

CANADA

Manitoba
WINNIPEG

Accreditation
Molecular Diagnosis of Angelman Syndrome (by MLPA and UPD analysis)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Angelman Syndrome (MS-MLPA)
North York General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Molecular diagnosis of Angelman syndrome (by methylation defects at SNRPN locus and QMPSF at 15q11q13 locus)
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of epilepsy (Panel)
CHU de Marseille - Hôpital de la Timone
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Marseille - Hôpital de la Timone
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)

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Angelman syndrome (SNRPN, UBE3A genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Diagnosis of Angelman-Syndrome (15q11.2)
Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Diagnosis of Angelman syndrome (SNRPN gene)
GHU Paris-Sud - Hôpital Antoine Béclère
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Angelman syndrome (gene NIPA2 or SNRPN or UBE3A)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Accreditation
Molecular diagnosis of Angelman syndrome through methylation sensitive MLPA analysis (NIPA1, SNRPN, UBE3A genes)
Nottingham City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
BAD STEBEN

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Angelman syndrome (SNRPN gene: Targetted mutation analysis / gene tracking)
St George's University of London
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Angelman syndrome by targeted copy number analysis (NIPA2 gene)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Skane
LUND

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman / Prader-Willi syndrome (FISH at the D15S10 locus; SNRPN gene: Southern blot)
Skånes Universitetssjukhus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (methylation-specific PCR and sequencing of the UBE3A gene; FISH analysis)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis
Technique(s) : PCR based techniques, FISH

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome (FISH analysis)
St George's University of London
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Angelman syndrome
The Doctors Laboratory Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

CENTRE-VAL DE LOIRE
CHAMBRAY-LES-TOURS

Accreditation
Molecular cytogenetic diagnosis of Angelman syndrome (FISH of UBE3A gene)
SELAS Arnaud-Biolys-Origet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Molecular cytogenetics and molecular diagnosis of Angelman syndrome (MS-MLPA; UBE3A and SNRPN genes)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of Angelman syndrome (UBE3A gene)
CHU Paris Centre - Hôpital Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Molecular cytogenetics diagnosis of Angelman syndrome
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Molecular cytogenetics diagnosis of Angelman syndrome
CHU de Dijon - Plateau technique de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

ILE-DE-FRANCE
PARIS

Molecular cytogenetics diagnosis of Angelman syndrome
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

OCCITANIE
TOULOUSE

Molecular cytogenetics diagnosis of Angelman syndrome
Clinique St Jean Languedoc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

ILE-DE-FRANCE
PARIS

Molecular cytogenetics diagnosis of Angelman syndrome
CHU Paris Centre - Maternité Port Royal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

NOUVELLE AQUITAINE
POITIERS

Molecular diagnosis of Prader-Willi and Angelman syndromes (MLPA: 15q11q13 region, methylation analysis of SNRPN and UBE3A genes)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Molecular cytogenetics diagnosis of Angelman syndrome
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

NORMANDIE
CAEN

Molecular cytogenetics diagnosis of Angelman syndrome
CHU de Caen - Hôpital Clémenceau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

BRETAGNE
RENNES

Molecular cytogenetics diagnosis of Angelman syndrome
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

AUVERGNE-RHONE-ALPES
CHAMBERY

Molecular cytogenetics diagnosis of Angelman syndrome
Hotel-Dieu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

Molecular cytogenetics diagnosis of Angelman syndrome
CHRU de Besançon - Hôpital Jean Minjoz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

GRAND-EST
NANCY

Molecular cytogenetics diagnosis of Angelman syndrome
Laboratoire de Biologie Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Molecular cytogenetics diagnosis of Angelman syndrome
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

ITALY

LIGURIA
GENOVA

Molecular cytogenetics diagnosis of Prader Willi/Angelman syndrome
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetics and molecular diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
BIOS S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

TOSCANA
PISA

Postnatal molecular and molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome (UBE3A gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, FISH

ITALY

PIEMONTE
TORINO

Cytogenetic diagnosis of Prader-Willi/Angelman syndrome
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

LOMBARDIA
CUSANO MILANINO

Molecular diagnosis of Prader-Willi/Angelman syndrome (SNRPN, UBE3A genes)
Istituto Auxologico Italiano
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques

ITALY

LIGURIA
GENOVA

Molecular diagnosis of Prader-Willi/Angelman syndrome (SNRPN gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
CREMONA

Molecular and molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Istituti Ospitalieri di Cremona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
ASLRM1 - Centro per la tutela della Salute della Donna e del Bambino
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome (SNRPN and UBE3A genes)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

Cataluña
SABADELL

Diagnosis of Angelman syndrome (UBE3A gene)
Corporación Sanitaria Parc Taulí
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques, Array based techniques, FISH, Whole Exome Sequencing (WES)

ITALY

FRIULI VENEZIA GIULIA
PORDENONE

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Santa Maria degli Angeli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Molecular cytogenetic diagnosis of Angelman syndrome
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Bayern
ERLANGEN

Molecular diagnosis of Angelman syndrome (methylation status SNRPN gene)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LOMBARDIA
LEGNANO

Molecular and molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera- Ospedale Civile di Legnano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

ITALY

LOMBARDIA
MILANO

Postanatal molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome (FISH analysis)
Università degli Studi di Milano - Biologia e Genetica per le Scienze Mediche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ITALY

TOSCANA
SIENA

Molecular diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Aragón
ZARAGOZA

Molecular cytogenetics diagnosis of Angelman syndrome
Centro de Análisis Genéticos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

MARCHE
ANCONA

Molecular and molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of Prader-Willi/Angelman syndrome
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Aragón
ZARAGOZA

Search for uniparental disomy
Centro de Análisis Genéticos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

VENETO
SARMEOLA DI RUBANO

Molecular cytogenetics diagnosis of Prader-Willi/Angelman
Laboratorio Analisi CITOTEST
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
VARESE

Molecular and molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
A.O.U. Ospedale di Circolo e Fondazione Macchi - Università dell'Insubria
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Prader-Willi/Angelman syndrome
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
BERGAMO

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Ospedali Riuniti di Bergamo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
PAVIA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Università degli Studi di Pavia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

VENETO
VENEZIA

Molecular cytogenetics diagnosis of Prader-Willi/Angelamn syndrome
Ospedale Civile S.S. Giovanni e Paolo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

VENETO
BASSANO DEL GRAPPA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Ospedale "San Bassiano"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

EMILIA ROMAGNA
PIEVESESTINA DI CESENA

Cytogenetic diagnosis of Prader-Willi/Angelman
AUSL Cesena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

LOMBARDIA
MILANO

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera "San Paolo" - Università degli Studi di Milano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

VENETO
VICENZA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
ULSS 6 "Vicenza"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

Andalucía
SEVILLA

Molecular diagnosis of Angelman syndrome (deletions or changes in the methylation pattern of 15q11-q13 region; detection of uniparental disomy)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Molecular and cytogenetic diagnosis of Angelman syndrome (FISH, Caryotype, MS-MLPA: 15q11q13 region BP1 to BP3, microsatellites)
CHU de Limoges - Hôpital de la mère et de l'enfant
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, Array based techniques, FISH, Karyotyping

AUSTRIA

OBERÖSTERREICH
LINZ

Molecular cytogenetic diagnosis of Prader-Willi / Angelman syndrome
Kepler Universitätsklinikum - Med Campus IV.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

PORTUGAL

SUL
LISBOA

Molecular cytogenetics diagnosis of Angelman syndrome
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

PIEMONTE
TORINO

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome with methylation analysis, FISH, UPD
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SWITZERLAND

Suisse Alémanique
BASEL

Molecular diagnosis of Angelman syndrome
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
SAN FERMO DELLA BATTAGLIA

Molecular cytogenetic diagnosis of Padre-Willi/Angelman syndrome
ASST Lariana - Ospedale S.Anna di Como
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

FRANCE

HAUTS-DE-FRANCE
AMIENS

Molecular cytogenetics diagnosis of Angelman syndrome
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Molecular cytogenetic diagnosis of Angelman syndrome
Institut für Humangenetik der Martin-Luther-Universität Halle Wittenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

GRAND-EST
REIMS

Molecular cytogenetics diagnosis of Angelman syndrome
Laboratoire BIOXA Porte de Paris
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Nordrhein-Westfalen
BONN

Molecular cytogenetic diagnosis of Angelman syndrome
Universitätsklinikum Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

PORTUGAL

NORTE
PORTO

Molecular cytogenetics diagnosis of Angelman and Prader-Willi syndromes (15q11-q13): FISH/MLPA
Faculdade de Medicina da Universidade do Porto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : MLPA based techniques, FISH

DENMARK

Sjælland
GLOSTRUP

Molecular and cytogenetic diagnosis of Angelman syndrome (msMLPA, UDp analysis, FISH)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, FISH, Karyotyping

AUSTRIA

SALZBURG
SALZBURG

Molecular diagnosis of Prader-Willi and Angelman syndrome
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ESTONIA

Tartu
TARTU

Molecular diagnosis of Angelman syndrome
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular cytogenetic diagnosis of Angelman syndrome
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Baden-Württemberg
STUTTGART

Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of uniparental disomy
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of Angelman syndrome by methyl-sensitive MLPA and by UBE3A gene mutations
CHU Paris - Hôpital Robert Debré
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Aragón
ZARAGOZA

Diagnosis of Angelman syndrome (UBE3A gene)
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques, FISH

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of Angelman syndrome
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, FISH

SPAIN

Comunidad Valenciana
ALZIRA

Molecular cytogenetics diagnosis of Angelman syndrome
Hospital Universitario de La Ribera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

DENMARK

Jylland
AARHUS

Molecular diagnosis of Angelman syndrome
Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Angelman syndrome (a-CGH, MLPA and FISH)
Leto Maternity Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Array based techniques, FISH

GREECE

ATTIKI
ATHENS

Molecular cytogenetics diagnosis of Angelman syndrome
Diagnostic Genetic Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Angelman syndrome (UBE3A gene: Analysis of the entire coding region and deletion/duplication analysis)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis

PORTUGAL

NORTE
PORTO

Molecular cytogenetics diagnosis of Angelman syndrome
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

ILE-DE-FRANCE
LE BLANC MESNIL

Molecular cytogenetics diagnosis of Angelman syndrome
Laboratoire d'analyses médicales Clément
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
BUSTO ARSIZIO

Molecular and molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
Toma Advanced Biomedical Assays S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

SPAIN

Baleares
PALMA DE MALLORCA

Molecular diagnosis of Angelman syndrome (PCR bisulfite modified DNA+ microsatellites)
Hospital Universitario Son Espases
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

ITALY

VENETO
COSTOZZA DI LONGARE

Molecular diagnosis of Angelman syndrome (UBE3A gene)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

NORWAY

Østlandet
OSLO

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORWAY

Vestlandet
BERGEN

Molecular cytogenetics diagnosis of Angelman syndrome
Haukeland University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

TURKEY

TURKEY
ISTANBUL

Molecular and molecular cytogenetics diagnosis of Angelman syndrome
Acibadem healthcare group
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

ITALY

VENETO
PADOVA

Molecular diagnosis of Prader-Willi/Angelman syndrome (UB3A gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of Angelman syndrome (UBE3A gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
TOULON

Molecular cytogenetics diagnosis of Angelman syndrome
CHI Toulon La Seyne-sur-Mer - Hôpital Sainte Musse
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

TOSCANA
FIRENZE

Cytogenetic and molecular diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular and molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome (SNRPN gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Cytogenetic diagnosis of Angelman syndrome (by conventional karyotype and FISH analysis)
Cambridge University Hospitals NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Molecular diagnosis of Angelman syndrome (SNRPN gene)
Faculté de médecine de Clermont-Ferrand
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

PAYS DE LA LOIRE
ANGERS

Molecular cytogenetics diagnosis of Angelman syndrome
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of Angelman syndrome (methylation status)
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

Molecular diagnosis of Prader-Willi and Angelman syndromes (SNRPN gene)
CHRU de Besançon - Hôpital Jean Minjoz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of Prader-Willi / Angelman syndrome (microdeletion and methylation defects at locus 15q11-q13 detected by MLPA)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of chromosomes 7, 14, 15 and 16 uniparental disomies
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

UNITED KINGDOM

Greater London
LONDON

Cytogenetic diagnosis of Angelman syndrome (by FISH at 15q11.2)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

HUNGARY

Dél-Dunántúl
PECS

Molecular diagnosis of Angelman syndrome
Clinical Center - University of Pécs
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A, SNRPN genes: sequencing, methylation analysis, MLPA)
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Molecular and molecular cytogenetic diagnosis of Angelman syndrome (FISH and MLPA)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Hamburg
HAMBURG

Molecular cytogenetic diagnosis of Prader-Willi syndrome/Angelman syndrome (UBE3A gene)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Sanger sequencing, MLPA based techniques, FISH

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of Angelman syndrome (UBE3A gene / MLPA))
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

GERMANY

Bayern
NÜRNBERG

Molecular cytogenetic diagnosis of Angelman syndrome
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GREECE

ATTIKI
ATHENS

Molecular cytogenetic diagnosis of Angelman syndrome by FISH
Bioiatriki S.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

POLAND

Warszawa
WARSAW

Molecular diagnostics of Angelman syndrome (deletion, paternal disomy, imprinting defects at 15q11-13)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

POLAND

Wroclaw
WROCLAW

Molecular diagnosis of Angelman syndrome
Przychodnia Fundacji Uniwersytetu Medycznego we Wroclawiu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnosis of Angelman syndrome (UBE3A gene: mutations in exons 7 to 16 ; methylation test and search for deletion in 15q11-q13)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Angelman syndrome (UBE3A gene / complete sequencing)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

POLAND

Poznan
POZNAN

Molecular diagnosis of Angelman syndrome (SNRPN gene; DNA methylation test)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

BRETAGNE
BREST

Molecular cytogenetic diagnosis of Angelman syndrome (FISH analysis)
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

TURKEY

TURKEY
ANKARA

Molecular cytogenetic diagnosis of Prader-Willi / Angelman syndrome (by FISH)
Intergen Genetics Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Angelman syndrome (entire coding sequence of UBE3A gene)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques, FISH, Karyotyping

ITALY

EMILIA ROMAGNA
FERRARA

Molecular diagnosis of Prader-Willi/Angelman syndromes
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Angelman syndrome (UBE3A gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Molecular cytogenetic diagnosis of Angelman syndrome (UBEA3 gene)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular cytogenetics of Angelman syndrome (by FISH analysis at locus 15q11-q13)
Hospital Universitario Donostia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SPAIN

País Vasco
DERIO

Molecular diagnosis of Angelman syndrome (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Diagnosis of Prader-Willi and Angelman syndromes (genes TUBGCP5, NIPA1, MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, APBA2; 15q11-q13 region)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

FRIULI VENEZIA GIULIA
UDINE

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndromes
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of microdeletion syndromes (by MLPA kit P297 & P245)
Faculdade de Medicina da Universidade de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hessen
WIESBADEN

Molecular cytogenetic diagnosis of Prader-Willi syndrome/Angelman syndrome
Institut für Humangenetik Wiesbaden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Saarland
HOMBURG

Molecular diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
Biomedizinisches Zentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

POLAND

Warszawa
WARSAW

Molecular diagnosis of Angelman syndrome (methylation test and search for deletion in 15q11-q13, UBE3A gene: mutations in exons 7 to 16 ; )
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of chromosomal anomalies
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SPAIN

Cataluña
BARCELONA

Molecular cytogenetics and molecular diagnosis of Angelman syndrome (array CGH, FISH, MLPA methylation)
Hospital Universitari General Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques, Array based techniques, FISH

PORTUGAL

CENTRO
OEIRAS

Prenatal and postnatal molecular cytogenetic and genetic diagnosis of Angelman syndrome (UBE3A gene, 15q11.2-q13 locus: MLPA, FISH and DNA methylation analysis)
Laboratório de Análises Clínicas Dr. Joaquim Chaves
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques, FISH

SPAIN

La Rioja
LOGROÑO

Diagnosis of Angelman syndrome (UBE3A gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

CANADA

Québec
MONTRÉAL

Molecular diagnosis of Prader-Willi / Angelman syndrome (methylation profile by MC-PCR + MS-MLPA)
Montreal Children's hospital - Hôpital de Montréal pour enfants
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : PCR based techniques, MLPA based techniques

ITALY

SICILIA
AVOLA

Molecular cytogenetics diagnosis of Prader Willi/Angelman syndrome
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Angelman syndrome (by differential PCR)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

ITALY

LAZIO
ROMA

Molecular diagnosis of Prader-Willi/Angelman syndrome (MS-MLPA-microduplications/microdeletions and methylation at 15q11/uniparental disomy of Chr15)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

ITALY

EMILIA ROMAGNA
MODENA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome (determined by Prenatal BoBs)
TEST s.r.l.
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

Comunidad Valenciana
ELCHE

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Bremen
BREMEN

Molecular diagnosis of Prader-Willi syndrome/Angelman syndrome
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Wroclaw
WROCLAW

Molecular cytogenetic diagnosis of Angelman syndrome (FISH)
Przychodnia Fundacji Uniwersytetu Medycznego we Wroclawiu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GERMANY

Berlin
BERLIN

Molecular diagnosis of Prader-Willi syndrome/Angelman syndrome (methylation status)
Praxis für medizinische Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of epilepsy (Panel)
CHU de Lyon HCL - GH Est
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

NOUVELLE AQUITAINE
POITIERS

Diagnosis of intellectual disability (Panel ID275)
CHU de Poitiers
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

ILE-DE-FRANCE
PARIS

Diagnosis of epileptic encephalopathy (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

HUNGARY

Észak-Magyarország
DEBRECEN

Molecular cytogenetic and molecular diagnosis of Angelman syndrome
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques, FISH

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Angelman syndrome (SNRPN gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

AUSTRIA

WIEN
WIEN

Molecular and molecular cytogenetic diagnosis of Angelman syndrome (SNRPN gene)
medgen.at GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

SPAIN

Madrid
MADRID

Diagnosis of epilepsy (panel)
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

BRETAGNE
BREST

Diagnosis of intellectual disability (Panel)
CHRU de Brest - Hôpital Morvan
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

CENTRE-VAL DE LOIRE
ORLEANS

Molecular cytogenetics diagnosis of Angelman syndrome
CHR d'Orléans - Site La Source
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

ABRUZZO
CHIETI

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Policlinico Universitario di Chieti
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

PUGLIA
CARBONARA DI BARI

Cytogenetic diagnosis of Prader-Will/Angelman syndrome
Ospedale di Venere - ASL Bari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

VENETO
BELLUNO

Molecular cytogenetics diagnosis of Prader Willi/Angelman syndrome
Ospedale San Martino
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular and molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

ITALY

PUGLIA
LECCE

Molecular cytogenetics diagnosis fo Prader-Willi/Angelman syndrome
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

EMILIA ROMAGNA
RAVENNA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Ospedale Santa Maria delle Croci
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

CAMPANIA
NAPOLI

Molecular cytogenetics diagnosis of Prader-Willi/Angelman
Azienda Ospedaliera Universitaria "Federico II"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

SARDEGNA
SASSARI

Molecular cytogenetics diagnosis of Prader-Willi/Angleman
Università degli Studi di Sassari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

VENETO
VERONA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome (SNRPN gene)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera San Giovanni Addolorata
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

CALABRIA
REGGIO CALABRIA

Molecular diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera BMM
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Canarias
LAS PALMAS DE GRAN CANARIA

Molecular cytogenetic and molecular diagnosis of Angelman syndrome. Methylation analysis. FISH.
Complejo Hospitalario Universitario Insular-Materno Infantil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SPAIN

Madrid
MÓSTOLES

Diagnosis of Angelman syndrome
Hospital Universitario de Móstoles
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

ITALY

CALABRIA
CATANZARO

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Pugliese Ciaccio
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
BRESCIA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Università degli Studi di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

VENETO
PADOVA

Molecular cytogenetics diagnosis of Parder-Willi/Angelman syndrome
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
SESTO SAN GIOVANNI

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Presidio Ospedaliero "Città di Sesto San Giovanni"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

TRENTINO ALTO ADIGE
TRENTO

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Ospedale Santa Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

UMBRIA
PERUGIA

Cytogenetic diagnosis of Prader-Willi/Angelman syndrome by high resolution
Poliambulatorio
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

Canarias
SANTA CRUZ DE TENERIFE

Diagnosis of Angelman syndrome (15q11-13)
Hospital Universitario de Canarias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SPAIN

Galicia
A CORUÑA

Molecular cytogenetics and molecular diagnosis of Angelman syndrome (FISH, methylation analysis)
Complejo Hospitalario Universitario A Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis
Technique(s) : FISH

ITALY

SICILIA
TROINA

Cytogenetics molecular diagnosis of Prader-Willi/Angelman syndrome
IRCCS OASI Maria Santissima
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

CAMPANIA
NAPOLI

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
P.S.I. "Elena d'Aosta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

ABRUZZO
L'AQUILA

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
Università degli Studi dell'Aquila - Coppito
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

PORTUGAL

NORTE
VILA REAL

Molecular cytogenetics diagnosis of Angelman syndrome
Centro Hospitalar de Vila Real-Peso da Régua, SA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

SICILIA
PALERMO

Molecular diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Prader-Willi/Angelmann
Centro Medico Artemisia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
IMOLA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
AUSL di Imola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of Prader-Willi/Angelman syndrome
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
BASEL

Molecular cytogenetics diagnosis (FISH) of Angelman syndrome
University Children's Hospital - UKBB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GREECE

IOANNINA
IOANNINA

Molecular diagnosis of Angelman syndrome
Medical school - University of Ioannina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Angelman syndrome
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

MARCHE
FANO

Molecular diagnosis of Prader-Willi/Angelman syndrome
Associazione Cante di Montevecchio
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
BOSISIO PARINI

Molecular diagnosis of Prader-Willi/Angelman syndrome
IRCCS "E. Medea"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

FRIULI VENEZIA GIULIA
UDINE

Molecular citogenetics diagnosis of Prader Willi/Angelman syndrome
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

SICILIA
TROINA

Molecular diagnosis of Prader-Willi/Angelman syndrome
IRCCS OASI Maria Santissima
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
REGGIO EMILIA

Molecular diagnosis of Prader Willi/Angelman syndrome
IRCCS Arcispedale Santa Maria Nuova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of Angelman syndrome : search for duplication and uniparental disomy (UPD) study
Motol university hospital - 2nd Medical School Charles University Prague
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis

SWEDEN

Landstinget i Uppsala län
UPPSALA

Molecular genetics diagnosis of Angelman syndrome
Uppsala Universitet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

ABRUZZO
CHIETI

Molecular diagnosis of Prader-Willi/Angelman syndrome
Policlinico Universitario di Chieti
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

UMBRIA
PERUGIA

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Universitaria di Perugia Santa Maria della Misericordia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

BULGARIA

 South Central region
PLOVDIV

Molecular cytogenetic diagnosis (FISH analysis) of Angelman syndrome
University Hospital Plovdiv - UMHAT Sv. Georgi - EAD
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

LEBANON

Beyrouth
BEIRUT

Molecular diagnosis of Prader-Willi and Angelman syndromes (uniparental disomy or chromosome 15 deletion)
Université Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene) by FISH analysis
Karolinska University Hospital - Clinical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of uniparental disomy
Karolinska University Hospital - Clinical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SLOVENIA

SLOVENIA
LJUBLJANA

Cytogenetic diagnosis of Angelman syndrome (by FISH analysis)
University Medical Center Ljubljana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GERMANY

Rheinland-Pfalz
KAISERSLAUTERN

Molecular cytogenetic diagnosis of Angelman syndrome
Med-Biolog-Labor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of Angelman and Prader-Willi syndrome by searching imprinting center defect of uniparental disomy
Istanbul Universitesi, Tip Fakültesi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of Angelman and Prader-Willi syndrome by searching imprinting center defect of uniparental disomy
Istanbul Universitesi, Tip Fakültesi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ISRAEL

ISRAEL
JERUSALEM

'Molecular diagnosis of Angelman Syndrome (15q11-13; deletion; UPD; methylation)'
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis

ISRAEL

ISRAEL
JERUSALEM

Cytogenetic diagnosis of Angelman syndrome (FISH analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ISRAEL

ISRAEL
HAIFA

Cytogenetic diagnosis of Angelman syndrome (FISH analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ISRAEL

ISRAEL
BEER YAAKOV

Cytogenetic diagnosis of Angelman syndrome (FISH analysis)
Assaf Harofeh Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

POLAND

Lodz
LODZ

Cytogenetic diagnosis of Angelman syndrome (detection of microdeletions by FISH)
Centralny Szpital Kliniczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CZECH REPUBLIC

Capital City Prague
PRAHA

Prenatal and postnatal molecular cytogenetic diagnosis of Angelman and Prader-Willi syndrome (MLPA at 15q11)
Motol university hospital - 2nd Medical School Charles University Prague
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : MLPA based techniques

GREECE

ATTIKI
ATHENS

Molecular cytogenetic diagnosis of Prader-Willi and Angelman syndromes (FISH at 15q11-13)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Prader-Willi and Angelman syndromes (microsatellite analysis)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Hradec Kralove
HRADEC KRALOVE

Molecular cytogenetic diagnosis of Prader-Willi and Angelman syndromes (by FISH)
Medical Genetics Laboratory
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Angelman syndrome by MLPA
Mitera General, Maternity and Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

POLAND

Warszawa
WARSAW

Molecular cytogenetic diagnosis of Angelman syndrome by FISH
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Angelman syndrome by MLPA
Bioiatriki S.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CZECH REPUBLIC

Olomouc
OLOMOUC

Molecular diagnosis of Angelman syndrome (UBE3A gene)
University hospital Olomouc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular and molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

ITALY

CAMPANIA
NAPOLI

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera "A. Cardarelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

NORMANDIE
LE HAVRE

Diagnosis by FISH of Angelman syndrome
GH du Havre - Hôpital Jacques Monod
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Angelman syndrome (UBE3A gene / MLPA of 15q11-q13 region by STRs)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

País Vasco
VITORIA-GASTEIZ

Diagnosis of Angelman syndrome (region 15q11.2-q13)
HUA - Hospital Universitario Araba. Sede Txagorritxu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of Angelman syndrome (SNRPN gene: MS-MLPA, MS-PCR/RFLP, allele specific REAL Time PCR, STR analysis of deletions ; UBE3A gene: sequencing)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

TUNISIA

TUNISIA
SOUSSE

Molecular diagnosis of Angelman syndrome (UBE3A gene: MS-MLPA)
CHU Farhat Hached
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

MOROCCO

Rabat
RABAT

Molecular diagnosis of Prader Willi and Angelman syndromes (Methylation status of region 15q11.2)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

SPAIN

Madrid
TRES CANTOS

Molecular diagnosis of Angelman syndrome (15q11 region, MS-MLPA and sequencing for UBE3A gene)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

ITALY

PUGLIA
GROTTAGLIE

Antenatal and postnatal molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome (determined by FISH)
Presidio Ospedaliero Centrale - Ospedale "San Marco"
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Prader-Willi and Angelman syndromes determined by quantitative methylation analysis (by Pyrosequencing and MassARRAY) of PWS/AS-ICR locus for the
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : Array based techniques, BS-Pyrosequencing

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of Multilocus Methylation Defects (MMD) by MassArray
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : Array based techniques