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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular diagnosis of Prader-Willi syndrome (SNRPN and MAGEL2 genes)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

GRAND-EST
STRASBOURG

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

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Molecular diagnosis of Prader Willi syndrome (SNRPN 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
SAINT-PRIEST-EN-JAREZ

Accreditation
Diagnosis of Prader-Willi syndrome by methylation studies of 15q11-q13 region by specific M-PCR (SNRPN gene)
CHU de Saint-Etienne - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, FISH

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

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

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Molecular cytogenetic and molecular diagnosis of Prader-Willi syndrome (SNRPN, MAGEL2 genes: QMPSF techniques)
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
REIMS

Accreditation
Molecular and molecular cytogenetic diagnosis of Prader-Willi syndrome (gene SNRPN)
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 Prader-Willi syndrome (FISH analysis of SNRPN 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 Prader-Willi syndrome
Faculté de médecine et de pharmacie de Rouen
Purpose(s) : Antenatal diagnosis, 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 Prader-Willi syndrome
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 Prader-Willi 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

BELGIUM

VLAAMS BRABANT
LEUVEN

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

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

Nordrhein-Westfalen
ESSEN

Accreditation
Molecular diagnosis of Prader-Willi syndrome (SNRPN 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 Prader-Willi 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

Baden-Württemberg
HEIDELBERG

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

GERMANY

Thüringen
JENA

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi 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 Prader-Willi 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 Prader-Willi 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 cytogenetic diagnosis of Prader-Willi 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

FRANCE

OCCITANIE
NÎMES

Accreditation
Molecular cytogenetics diagnosis of Prader-Willi syndrome (SNRPN gene)
CHU de Nîmes - Hôpital Caremeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of Prader-Willi syndrome
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi 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 Prader-Willi syndrome (SNRPN gene: methylation analysis, MLPA)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular and molecular cytogenetic diagnosis of Prader-Willi syndrome
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, FISH

SPAIN

Cataluña
BARCELONA

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Prader-Willi syndrome
Medizinisch Genetisches Zentrum München
Purpose(s) : 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, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), MLPA based techniques, FISH, Whole Exome Sequencing (WES)

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi syndrome
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 Prader-Willi syndrome (MS - MLPA)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

SWITZERLAND

Suisse Alémanique
ZÜRICH

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular and molecular cytogenetics diagnosis of Prader-Willi syndrome (karyotyping; FISH; methylation sensitive MLPA; microarray; microsatellites for UPD15)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Uniparental disomy study, Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, Array based techniques, FISH, Karyotyping

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular and molecular cytogenetic diagnosis of Prader-Willi syndrome
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FINLAND

Finland
TURKU

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

FINLAND

Finland
OULU

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

BELGIUM

OOST-VLAANDEREN
GENT

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

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular diagnosis of Prader-Willi syndrome (PWCR)
CHU de LIEGE - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

VLAAMS BRABANT
LEUVEN

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

SWITZERLAND

Suisse Romande
LAUSANNE

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

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Search of genomic DNA duplications and/or deletions by array-CGH
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of Prader Willi syndrome
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 Prader-Willi 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 Prader Willi syndrome (15q11-q13 by methylation sensitive PCR)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Lanarkshire
GLASGOW

Accreditation
Molecular diagnosis of Prader-Willi syndrome (by methylation specific PCR and Molecular diagnosis of Angelman syndrome (by methylation specific PCR and diagnosis by using markers outside the PWS region)
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 Prader-Willi 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

UNITED KINGDOM

West Midlands
BIRMINGHAM

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

GERMANY

Sachsen
DRESDEN

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

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Prader Willi 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

GERMANY

Hessen
BAD NAUHEIM

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

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular and molecular cytogenetic diagnosis of Prader-Willi syndrome (PWCR region)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Methylation analysis
Technique(s) : PCR based techniques, MLPA based techniques

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation
Molecular diagnosis of Prader-Willi syndrome (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

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi 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 Prader-Willi syndrome (methylation SNRPN 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 Prader - Willi 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 Prader-Willi 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 Prader Willi Syndrome (methylation SNRPN gene (PCR based techniques))
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Other

SPAIN

Asturias
OVIEDO

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

NETHERLANDS

Noord-Holland
AMSTERDAM

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

NETHERLANDS

Gelderland
NIJMEGEN

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

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular and molecular cytogenetic diagnosis of Prader-Willi syndrome
Institut für Klinische Genetik Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular and molecular cytogenetic diagnosis of Prader-Willi syndrome
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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 Prader-Willi syndrome (SNRPN gene: targeted 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 Prader-Willi syndrome (MS-MLPA of region 15q11-13)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular diagnosis of Prader-Willi 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 Prader-Willi syndrome (methylation status/MLPA of region 15q11.2, msMLPA of region 15q11-13)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

NETHERLANDS

Limburg
MAASTRICHT

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

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

UNITED KINGDOM

Merseyside
LIVERPOOL

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

GERMANY

Sachsen
LEIPZIG

Accreditation
Molecular diagnosis of Prader-Willi syndrome (SNRPN gene)
MVZ Labor Dr. Reising-Ackermann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GREECE

ATTIKI
ATHENS

Accreditation
Molecular diagnosis of Prader-Willi 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 Prader-Willi 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 Prader-Willi Syndrome (15q11-q13)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Prader-Willi syndrome (MS-MLPA of region 15q11-13)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : 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

UNITED KINGDOM

Norfolk
NORWICH

Accreditation
Diagnosis of Prader-Willi syndrome (FISH analysis at locus 15q11-q13)
Norfolk and Norwich University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Prader-Willi syndrome (methylation-MLPA, UBE3A gene: sequencing)
Diagenom 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

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

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of Prader-Willi syndrome (methylation status)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular diagnosis of Prader-Willi syndrome (methylation status of SNRPN promoter)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

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 Prader-Willi syndrome (by methylation and copy number 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

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular cytogentic diagnosis (FISH) of Prader-Willi syndrome
Aurigen - Centre Romand de génétique et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of Prader-Willi syndrome (SNRPN gene)
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

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

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Prader-Willi Syndrome (UPD15 studies: SNRPN gene: targetted mutation analysis)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Diagnosis of Prader-Willi syndrome
Synlab Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

CANADA

Manitoba
WINNIPEG

Accreditation
Molecular Diagnosis of Prader-Willi syndrome (MLPA)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CANADA

Ontario
OTTAWA

Accreditation
Molecular Diagnosis of Prader Willi Syndrome (MS-MLPA)
Children's Hospital of Eastern Ontario
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Prader Willi 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

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Prader-Willi syndrome
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Prader-Willi syndrome
Reference Laboratory Genetics
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of premature aging (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

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Prader-Willi syndrome
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Prader-Willi syndrome (NDN, SNRPN genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Diagnosis of Prader Willi 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

UNITED KINGDOM

Merseyside
LIVERPOOL

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

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Accreditation
Molecular diagnosis of Prader Willi syndrome through methylation sensitive MLPA analysis (NDN, SNRPN 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 Prader-Willi syndrome
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Prader Willi 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 Prader-Willi syndrome by targetted copy number analysis (NDN 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 cytogenetic diagnosis of Prader-Willi syndrome (FISH analysis)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi 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 Prader-Willi syndrome (SNRPN gene: by MLPA and methylation studies)
The Doctors Laboratory Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

FRANCE

CENTRE-VAL DE LOIRE
CHAMBRAY-LES-TOURS

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi syndrome (FISH of SNRPN gene)
SELAS Arnaud-Biolys-Origet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Molecular cytogenetics and molecular diagnosis of Prader-Willi syndrome (MS-MLPA; SNRPN gene)
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 Prader-Willi syndrome (SNRPN 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 Prader-Willi syndrome
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Molecular cytogenetics diagnosis of Prader-Willi syndrome
CHU de Dijon - Plateau technique de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

OCCITANIE
TOULOUSE

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

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

NORMANDIE
CAEN

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

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of Prader Willi syndrome by RT-PCR and methyl-sensitive MLPA (SNRPN gene)
CHU Paris - Hôpital Robert Debré
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

AUVERGNE-RHONE-ALPES
CHAMBERY

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

FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

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

FRANCE

GRAND-EST
NANCY

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

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Molecular cytogenetic diagnosis of Prader-Willi 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

LOMBARDIA
MONZA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera San Gerardo
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

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 Prader-Willi 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 Prader-Willi syndrome (methylation status of SNRPN promoter)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

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

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

SPAIN

Aragón
ZARAGOZA

Molecular cytogenetics diagnosis of Prader-Willi syndrome
Centro de Análisis Genéticos
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 Prader-Willi 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 cytogenetics diagnosis of Prader-Willi 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 microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques, FISH

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 Prader-Willi 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 Prader-Willi 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 Prader-Willi syndrome
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

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

GERMANY

Nordrhein-Westfalen
BONN

Molecular cytogenetic diagnosis of Prader-Willi 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

PORTUGAL

NORTE
PORTO

Molecular cytogenetics diagnosis of Prader-Willi syndrome
Faculdade de Medicina da Universidade do Porto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

DENMARK

Sjælland
GLOSTRUP

Molecular and cytogenetic diagnosis of Prader Willi syndrome (methylation, microdeletion and FISH)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : FISH

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

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Prader-Willi syndrome (SNRPN 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 Prader-Willi syndrome
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Baden-Württemberg
STUTTGART

Molecular and molecular cytogenetic diagnosis of Prader-Willi syndrome (SNRPN gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of Prader-Willi syndrome
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Hovedstaden
COPENHAGEN

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

SPAIN

Aragón
ZARAGOZA

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Prader-Willi syndrome (MAGEL2 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 Prader-Willi syndrome
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

DENMARK

Jylland
AARHUS

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

ESTONIA

Tartu
TARTU

Molecular diagnosis of Prader-Willi syndrome screening for methylation of SNRPN gene
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

FRANCE

ILE-DE-FRANCE
LE BLANC MESNIL

Molecular cytogenetics diagnosis of Prader-Willi 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

NORWAY

Østlandet
OSLO

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

NORWAY

Vestlandet
BERGEN

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

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of Prader-Willi syndrome (SNRPN 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 Prader-Willi 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 Prader-Willi syndrome
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
TOULON

Molecular cytogenetics diagnosis of Prader-Willi 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 Prader-Willi 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 Prader-Willi 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

GERMANY

Nordrhein-Westfalen
MÜNSTER

Molecular diagnosis of Prader-Willi syndrome (SNRPN gene)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

PAYS DE LA LOIRE
ANGERS

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

GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of Prader-Willi 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

Tayside
DUNDEE

Cytogenetic diagnosis of Prader-Willi syndrome (by FISH analysis)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

UNITED KINGDOM

Greater London
LONDON

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

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of Prader-Willi syndrome (SNRPN gene: sequencing, MLPA)
bio.logis Zentrum für Humangenetik
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

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

Diagnosis of Prader-Willi syndrome (SNRPN gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GREECE

ATTIKI
ATHENS

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

POLAND

Warszawa
WARSAW

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

PORTUGAL

NORTE
PORTO

Molecular and molecular cytogenetic diagnosis of Prader-Willi syndrome by methylation analysis and FISH analysis
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis
Technique(s) : FISH

POLAND

Poznan
POZNAN

Molecular diagnosis of Prader-Willi 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 Prader-Willi 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

POLAND

Warszawa
WARSAW

Molecular diagnosis of Prader-Willi syndrome (methylation analysis and search for deletion in 15q11-q13)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

UNITED KINGDOM

Lothian
EDINBURGH

Molecular cytogenetic diagnosis of Prader-Willi syndrome (FISH analysis)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Molecular cytogenetic diagnosis of Prader-Willi syndrome (FISH analysis at locus 15q11-q13)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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

GERMANY

Baden-Württemberg
FREIBURG

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

SPAIN

País Vasco
SAN SEBASTIÁN

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

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Prader-Willi syndrome (microsatellite analysis)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
DERIO

Molecular diagnosis of Prader-Willi 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

FRANCE

BRETAGNE
BREST

Molecular diagnosis of dysmorphological syndromes by CGH array
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array 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 and molecular cytogenetics diagnosis of Prader-Willi syndrome by MLPA and FISH
Faculdade de Medicina da Universidade de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technique(s) : MLPA based techniques, FISH

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Prader-Willi syndrome (SNRPN gene)
Medizinische Universität Wien
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

SPAIN

La Rioja
LOGROÑO

Diagnosis of Prader-Willi syndrome (SNRPN gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : 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 Prader-Willi 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 genetic and cytogenetics diagnosis of Prader-Willi syndrome (deletion/duplication analysis by 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, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, FISH

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

Alberta
CALGARY

Molecular Diagnosis Prader-Willi syndrome
Alberta Children's Hospital
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

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Prader-Willi Syndrome (D-PCR of SNRPN)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis Prader-Willi syndrome (MLPA/UPD-15 PWSCR)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : MLPA 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

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 Prader-Willi 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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Prader-Willi syndrome (NDN gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

HUNGARY

Észak-Magyarország
DEBRECEN

Molecular cytogenetic and molecular diagnosis of Prader-Willi syndrome
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, FISH

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 Prader-Willi 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 Prader-Willi syndrome. Methylation analysis. FISH.
Complejo Hospitalario Universitario Insular-Materno Infantil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis
Technique(s) : FISH

SPAIN

Madrid
MÓSTOLES

Diagnosis of Prader-Willi 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 Prader-Willi 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 Prader-Willi 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 Prader-Willi 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 Prader Willi syndrome
University Children's Hospital - UKBB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GREECE

IOANNINA
IOANNINA

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

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Prader-Willi 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 Prader-Willi 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 Prader-Willi 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 Prader-Willi 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 diagnosis of Prader Willi syndrome (PWCR gene)
Karolinska University Hospital - Clinical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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 Prader-Willi 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 Prader-Willi 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 Prader Willi 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 Prader Willi (FISH and Molecular 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 Prader Willi (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 Prader Willi (FISH analysis)
Assaf Harofeh Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

POLAND

Lodz
LODZ

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

SPAIN

Galicia
VIGO

Molecular cytogenetics diagnosis of Prader-Willi syndrome by FISH (SNRPN) analysis at 15q11-13
Hospital Álvaro Cunqueiro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

CZECH REPUBLIC

Olomouc
OLOMOUC

Molecular diagnosis of Prader-Willi (SNRPN 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 Prader-Willi syndrome
GH du Havre - Hôpital Jacques Monod
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of Prader-Willi syndrome (SNRPN gene: MS-MLPA, MS-PCR/RFLP, allele specific REAL Time PCR, STR analysis of deletions)
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

POLAND

Lodz
LODZ

Molecular diagnosis of Prader-Willi Syndrome (methylation 15q11-q13)
Centralny Szpital Kliniczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

TUNISIA

TUNISIA
SOUSSE

Molecular diagnosis of Prader-Willi syndrome (SNRPN 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

MOROCCO

Rabat
RABAT

Molecular diagnosis of male infertility due to Y chromosome deletions (AZF)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

SPAIN

Madrid
TRES CANTOS

Molecular diagnosis of Prader-Willi syndrome (15q11-13, MS-MLPA)
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

SPAIN

Madrid
MADRID

Diagnosis of Prader-Willi syndrome
ISCIII - Instituto de Salud Carlos III
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH