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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN and MAGEL2 genes)
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, Microsatellite analysis

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
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

GRAND-EST
STRASBOURG

Accreditation
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

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of Prader-Willi syndrome
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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
Diagnosis of Prader-Willi syndrome
Laboratoire de biologie médicale GEN-BIO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
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
QUINT FONSEGRIVES

Accreditation
Diagnosis of Prader-Willi syndrome
Laboratoire Labosud Garonne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Prader-Willi syndrome
APHP - HUPC - Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene: QMPSF techniques)
CHU de Toulouse - Hôpital Purpan
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) : Sanger sequencing, PCR based techniques, MLPA based techniques, Microsatellite analysis

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
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

GRAND-EST
REIMS

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene)
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
Diagnosis of Prader-Willi syndrome (FISH analysis of SNRPN gene)
Hôpital Necker-Enfants Malades
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Prader-Willi syndrome
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
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

Accreditation
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, Microsatellite analysis

FRANCE

AUVERGNE-RHONE-ALPES
CHAMBERY

Accreditation
Diagnosis of Prader-Willi syndrome
CHMS Site Chambéry
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Search for uniparental disomy (microsatellite analyses)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

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

FRANCE

GRAND-EST
NANCY

Accreditation
Diagnosis of Prader-Willi syndrome
Laboratoires ATOUTBIO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of Prader-Willi syndrome (region 15q11.2)
CHU 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, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

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

FRANCE

AUVERGNE-RHONE-ALPES
SAINT-PRIEST-EN-JAREZ

Accreditation
Diagnosis of uniparental disomies of chromosomes 7, 14 and 15 (SNRPN and MEG3 genes)
CHU de Saint-Etienne - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

CENTRE-VAL DE LOIRE
ORLEANS

Accreditation
Diagnosis of Prader-Willi syndrome
CHR d'Orléans - Site La Source
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of Prader-Willi syndrome (15q11-q13 region; SNRPN gene)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

TOSCANA
FIRENZE

Accreditation
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) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), FISH

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of uniparental disomy of chromosomes 6, 7, 11, 14, 15, 16 and 20
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques, Microsatellite analysis

GERMANY

Nordrhein-Westfalen
ESSEN

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene: MS-MLPA, microsatellites)
Universitätsklinikum Essen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, Karyotyping

GERMANY

Hamburg
HAMBURG

Accreditation
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
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
Diagnosis of uniparental disomy (6, 7, 11, 13, 14, 15, 16, 18, 21; others on request)
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

Thüringen
JENA

Accreditation
Diagnosis of Prader-Willi syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, FISH

GERMANY

Schleswig-Holstein
KIEL

Accreditation
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
Diagnosis of Prader-Willi syndrome
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Prader-Willi syndrome
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

OCCITANIE
NÎMES

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

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of Prader-Willi syndrome
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
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, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

GERMANY

Baden-Württemberg
ULM

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene)
Universitätsklinikum Ulm
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

ILE-DE-FRANCE
LE CHESNAY

Accreditation
Diagnosis of uniparental disomy of chromosomes 7, 14 and 15 (SNRPN and UBE3A genes)
CH de Versailles - Hôpital André Mignot
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

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

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Accreditation
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, Microsatellite analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
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

GERMANY

Niedersachsen
HANNOVER

Accreditation
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
Diagnosis of Prader-Willi syndrome
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Cytogenetics diagnosis of Prader-Willi syndrome
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
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
Diagnosis of Prader-Willi syndrome
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Array based techniques

FRANCE

HAUTS-DE-FRANCE
AMIENS

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

FINLAND

Finland
TURKU

Accreditation
Diagnosis of Prader-Willi syndrome
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Search for cryptic subtelomeric anomalies by array CGH
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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

FRANCE

GRAND-EST
REIMS

Accreditation
Diagnosis of Prader-Willi syndrome
Laboratoire BIOXA CHATILLONS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of Prader-Willi syndrome (15q11-q13 region; SNRPN gene)
Center for Medical Genetics Gent
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Prader-Willi syndrome by methylation studies of 15q11-q13 region (SNRPN gene)
CHU de Liège - UniLab Lg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi syndrome
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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

GERMANY

Nordrhein-Westfalen
BONN

Accreditation
Diagnosis of Prader-Willi syndrome
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of Prader-Willi syndrome (15q11-q13 region; UBE3A gene)
Centrum Medische Genetica - UZA
Purpose(s) : Antenatal diagnosis, 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 and/or cytogenetic diagnosis of Prader Willi syndrome (15q11-q13 by methylation sensitive PCR, FISH analysis)
St Mary's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, MLPA based techniques, Array based techniques, FISH

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Search of duplications and/or deletions by array-CGH
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH

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

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)
Queen Elizabeth University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : PCR based techniques

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Search for uniparental disomy
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

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

GERMANY

Sachsen
DRESDEN

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

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Accreditation
Molecular diagnosis of Prader Willi syndrome through methylation sensitive MLPA analysis (NDN, SNRPN genes)
Nottingham University Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
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

Baden-Württemberg
MANNHEIM

Accreditation
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

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of Prader-Willi syndrome by methylation studies of 15q11-q13 region (SNRPN gene)
Institut de Pathologie et de Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Cambridgeshire
ST NEOTS

Accreditation
Molecular diagnosis of Prader Willi syndrome (SNRPN gene: Targetted mutation analysis / gene tracking)
The Aplastic Anaemia Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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)
Children's Health Ireland @ Crumlin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of Prader-Willi syndrome screening for methylation of SNRPN gene
Centre of Clinical Genetics - Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : 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 (MAGEL2, NDN, OCA2, SNORD116, SNRPN genes)
Hospital Universitario Central de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of Uniparental Disomy
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Prader-Willi Syndrome (SNRPN gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, Microsatellite analysis

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Uniparental Disomy
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Diagnosis of Prader-Willi syndrome
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, MLPA based techniques, FISH

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)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Diagnosis of uniparental disomy of chromosomes 7, 14 , 15 and X
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene)
Centre de Biologie
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, Microsatellite analysis

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of Prader-Willi syndrome (15q11-q13 region, SNRPN gene)
Erasme Hospital - ULB
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
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) : Targeted mutation analysis
Technique(s) : PCR based techniques, MLPA based techniques

GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation
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

GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation
Diagnosis of uniparental disomy (all chromosomes)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of Robertsonian and reciprocal translocations, other chromosomal anomalies and X-linked diseases
Hôpitaux Universitaires de Strasbourg - HUS
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Diagnosis of Prader-Willi syndrome
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SWEDEN

Region Stockholm
STOCKHOLM

Accreditation
Diagnosis of uniparental disomy
Karolinska Universitetssjukhuset - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

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

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular diagnosis of Uniparental Disomy (UPD7, UPD14, UPD15 and UPD16)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Uniparental Disomy
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

Accreditation
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

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
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
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
Technique(s) : Microsatellite analysis

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
FIMLab Laboratories
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Sachsen
LEIPZIG

Accreditation
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

GERMANY

Hessen
FRANKFURT AM MAIN

Accreditation
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

Hessen
FRANKFURT AM MAIN

Accreditation
Diagnosis of uniparental disomy of chromosomes
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

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
BRUSSELS

Accreditation
Diagnosis of Prader-Willi syndrome (UBE3A gene)
Cliniques universitaires Saint-Luc - UCLouvain
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

Accreditation
Diagnosis pangenomic of constitutional anomalies by molecular cytogenetic (FISH) and CGHarrays
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation
FISH analyses of microdeletions / microduplications
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SWEDEN

Region Västra Götaland
GÖTEBORG

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi syndrome (FISH analysis)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SWEDEN

Region Västra Götaland
GÖTEBORG

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

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of Prader-Willi syndrome (FISH analysis)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of cryptic subtelomere rearrangements (FISH analysis)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
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, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of uniparental disomies
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

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

UNITED KINGDOM

Cambridgeshire
ST NEOTS

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi syndrome (FISH analysis)
The Aplastic Anaemia Trust
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

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular cytogenetic diagnosis of Prader-Willi syndrome (FISH analysis at locus 15q11-q13)
Belfast City Hospital
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: 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular and cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of dysmorphological syndromes by CGH array
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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
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
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
Technique(s) : BS-Pyrosequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
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
Technique(s) : BS-Pyrosequencing

GERMANY

Niedersachsen
HANNOVER

Accreditation
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

SPAIN

Madrid
MADRID

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

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Diagnosis 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, Microsatellite analysis

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
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
Diagnosis of Prader-Willi/Angelman syndromes (15q11 region)
Ordensklinikum Linz GmbH Barmherzige Schwestern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
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

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

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

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of obesity (NGS screening panel, 49 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Cytogenetic lab for conventional and molecular cytogenetic chromosome analysis
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Cytogenetic lab for prenatal and postnatal chromosome analysis
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

CENTRE-VAL DE LOIRE
CHAMBRAY-LES-TOURS

Accreditation
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of microdeletion / microduplication syndromes
Hôpital Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
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

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of intellectual disability (Panel)
Hôpital Necker-Enfants Malades
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

Bayern
MÜNCHEN

Accreditation
Diagnosis of Prader-Willi syndrome (NDN, SNRPN genes)
Pränatal-Medizin München MVZ GmbH
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

BRETAGNE
BREST

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Diagnosis of Prader Willi and Angelman syndromes (MAGEL2 and UBE3A genes)
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of mental retardation and dysmorphology (NGS screening panel, 353 genes)
Medizinisch Genetisches Zentrum München
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)

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular cytogenetic diagnosis of learning disability, developmental delay, congenital anomalies and dysmorphism syndromes, autism or mild intellectual disability (by conventional karyotype, array or FISH analysis)
St Mary's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH, Karyotyping

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of chromosomal anomalies (Array CGH by DNA-SNP chips)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH, Karyotyping

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Chromosomal Microarray Analysis (CMA)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of chromosomal anomalies
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

SWITZERLAND

Suisse Italienne
BREGANZONA

Accreditation
Diagnosis of Prader-Willi syndrome
Unilabs Ticino - LAS
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of Prader-Willi syndrome (FISH, Caryotype, MS-MLPA: region 15q11q13 from BP1 to BP3, microsatellite markers)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of autosomal uniparental disomy (any chromosome)
Centrum Medische Genetica - UZA
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Array based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of autosomal uniparental disomy (any chromosome)
Institut de Pathologie et de Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of developmental abnormalities and intellectual disability (Whole exome)
CHU de Rouen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnostic of genetic obesity (gene panel)
CHU de Liège - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of uniparental disomy of chromosome 15
Erasme Hospital - ULB
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Diagnosis of Prader-Willi syndrome
CHU de Grenoble site Nord - Hôpital Couple-Enfant
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

ITALY

SICILIA
CATANIA

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

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

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

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

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Diagnosis of Prader-Willi syndrome
Zweigpraxis des MVZ der Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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

NORWAY

Vestlandet
BERGEN

Accreditation
Molecular cytogenetics diagnosis of Prader-Willi syndrome
Haukeland University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques

UNITED KINGDOM

Greater London
LONDON

Accreditation
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

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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of UPD 15 (microsatellite analysis)
North York General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

FRANCE

NORMANDIE
CAEN

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

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

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

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
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
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
ASST Monza - Ospedale San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of uniparental disomy
ASST Monza - Ospedale San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

TOSCANA
PISA

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) : Targeted mutation analysis, Sequence analysis: entire coding region, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, 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

LAZIO
ROMA

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

ITALY

LOMBARDIA
CREMONA

Diagnosis of Prader-Willi/Angelman syndrome (determined by MS-MLPA)
ASST Cremona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

LOMBARDIA
CUSANO MILANINO

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : 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 - SEDE SAN PAOLO
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), Array based techniques

SPAIN

Cataluña
SABADELL

Diagnosis of Prader-Willi syndrome (NDN, SNRPN, genes)
Corporación Sanitaria Parc Taulí
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, Microsatellite analysis

ITALY

FRIULI VENEZIA GIULIA
PORDENONE

Diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Santa Maria degli Angeli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

ITALY

LAZIO
ROMA

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

ITALY

LAZIO
ROMA

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

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

Diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Uniparental disomy study, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Array based techniques, Microsatellite analysis

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

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

VENETO
SARMEOLA DI RUBANO

Molecular diagnosis of Uniparental disomy
Laboratorio Analisi CITOTEST
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
MILANO

Molecular diagnosis of uniparental disomy
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LOMBARDIA
BERGAMO

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
ASST Papa Giovanni XXIII
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
PAVIA

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

ITALY

VENETO
VENEZIA

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

ITALY

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
ASST Santi Paolo e Carlo, Ospedale 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
Azienda ULSS8 "Berica"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of uniparental disomy (7, 14, 15 chr.)
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

SPAIN

Andalucía
SEVILLA

Diagnosis of Prader-Willi syndrome (15q11-q13 region)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

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

ITALY

PIEMONTE
TORINO

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome with methylation analysis, FISH, UPD
A.O.U. 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

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
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy (2, 6, 14, 15, 16 and 20 chromosome)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Niedersachsen
OSNABRÜCK

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

GERMANY

Baden-Württemberg
STUTTGART

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, Microsatellite analysis

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

SPAIN

Madrid
MADRID

Diagnosis of Prader-Willi syndrome (MAGEL2, NDN, OCA2, SNRPN genes)
Hospital Universitario 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

GERMANY

Bayern
BAD STEBEN

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

GERMANY

Bayern
BAD STEBEN

Diagnosis of uniparental disomy (all chromosomes)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

DENMARK

Jylland
AARHUS

Molecular diagnosis of Prader Willi syndrome
Klinisk Genetisk Afdeling - 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

SPAIN

Cataluña
BARCELONA

Diagnosis of chromosomal anomalies (SNP array)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

ILE-DE-FRANCE
LE BLANC MESNIL

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

GREECE

ATTIKI
MAROUSI

Clinical laboratory for cytogenetic testing
Private clinic for subfertility studies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SWEDEN

Region Uppsala
UPPSALA

Diagnosis of Prader-Willi syndrome
Akademiska Sjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

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, Microsatellite analysis

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

Diagnosis of Prader-Willi/Angelman syndrome (UB3A gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : PCR based techniques, Microsatellite analysis

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

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
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques

ITALY

LAZIO
ROMA

Molecular genetic diagnosis of cryptic rearrangements by array-CGH
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

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

ITALY

LAZIO
ROMA

Molecular genetic diagnosis of criptic rearrangements by array-CGH
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

ITALY

LOMBARDIA
LEGNANO

Molecular diagnosis of uniparental disomy
Azienda Ospedaliera- Ospedale Civile di Legnano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

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

ITALY

PIEMONTE
TORINO

Molecular genetic diagnosis of genomic microdeletions-duplications by CGH-array
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques

GERMANY

Hamburg
HAMBURG

Diagnosis of Prader-Willi syndrome/Angelman syndrome (UBE3A gene)
Gemeinschaftspraxis für Humangenetik GbR
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)
IMEGEN - Delegación Málaga
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

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

ITALY

LOMBARDIA
BUSTO ARSIZIO

Molecular diagnosis of uniparental disomy
Toma Advanced Biomedical Assays S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

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

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

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

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Prader-Willi syndrome (locus 15q11-q13)
Hospital Universitario Donostia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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, Microsatellite analysis

ITALY

LAZIO
ROMA

Antenatal molecular diagnosis of chromosome 6, 7, 14, 15 uniparental disomy
ASLRM1 - Centro per la tutela della Salute della Donna e del Bambino
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy (7, 14, 21 chromosomes)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Prader-Willi syndrome (SALSA MS-MLPA probemix ME028-B2)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Hessen
WIESBADEN

Diagnosis of Prader-Willi syndrome/Angelman syndrome
IMD 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

DENMARK

Sjælland
GLOSTRUP

Molecular cytogenetic diagnosis of submicroscopic chromosome aberrations (FISH)
Kennedy Center
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics
Technique(s) : FISH

DENMARK

Sjælland
GLOSTRUP

Molecular and cytogenetic diagnosis of subtelomeric chromosome imbalances (MLPA and FISH)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technique(s) : MLPA based techniques, FISH

SPAIN

Cataluña
BARCELONA

Diagnosis of Prader-Willi syndrome (MAGEL2, NDN, OCA2, SNRPN genes)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Diagnosis of Robertsonian and reciprocal translocations
CHU de Nantes - Institut de Biologie
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

ITALY

SICILIA
AVOLA

Diagnosis of Prader Willi/Angelman syndrome
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

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, Microsatellite analysis

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 - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

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

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

ITALY

VENETO
LIMENA

Molecular diagnosis of uniparental disomies (chromosomal STR markers)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Bremen
BREMEN

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

Diagnosis of Prader-Willi syndrome/Angelman syndrome (methylation status)
Labor Medicover Humangenetik Berlin Lichtenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

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

POLAND

Gdansk
GDANSK

PGS-NGS 360°?. Preimplantation Genetic Screening
INVICTA Sp. z o.o.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES)

HUNGARY

Közép-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

SPAIN

Cataluña
TERRASSA

Diagnosis of Prader-Willi syndrome
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Prader-Willi syndrome (MAGEL2 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of Prader-Willisyndrome (SNRPN gene)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of idiopathic intellectual disability, autism, growth delay, and / or multiple congenital anomalies (qChip« Post)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of chromosomal anomalies
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications, Chromosomal instability
Technique(s) : NGS sequencing (except WES), M-FISH/SKY, MLPA based techniques, Array based techniques, FISH, Karyotyping, Chromosome breakage analysis

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of Prader-Willi and Angelman syndromes (ATP10A, MAGEL2, NDN, SNRPN, UBE3A genes)
Hospital Clínico Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Sachsen
LEIPZIG

Diagnosis of Prader-Willi syndrome/Angelman syndrome (methylation status)
Institut für Humangenetik am Universitätsklinikum Leipzig
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of Prader-Willi syndrome (MAGEL2, NDN, OCA2, SNORD116, SNRPN genes)
Hospital Universitario Son Espases
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

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
IRCCS Ospedale Policlinico San Martino
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of Prader-Willi/Angelman syndrome
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, FISH

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

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

ITALY

CALABRIA
REGGIO CALABRIA

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

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
BASSANO DEL GRAPPA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome
Ospedale "San Bassiano"
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
LA CUESTA

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

Diagnosis of Prader-Willi syndrome
Hospital Universitario da Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, 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

PUGLIA
CARBONARA DI BARI

Molecular genetic diagnosis of cryptic intrachromosomal and subtelomeric rearrangement by array-CGH
Ospedale di Venere - ASL Bari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

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

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

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

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

ITALY

LAZIO
ROMA

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

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

GERMANY

Hessen
BAD NAUHEIM

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

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

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

Diagnosis of Prader-Willi/Angelman syndrome
IRCCS "E. Medea"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : BS-Pyrosequencing

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
AUSL IRCCS Arcispedale Santa Maria Nuova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORWAY

Østlandet
OSLO

Molecular diagnosis of Prader-Willi syndrome
Oslo University Hospital, Ullevaal
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

SLOVENIA

SLOVENIA
MARIBOR

Cytogenetic analyses of chromosomal anomalies
Maribor general hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

ABRUZZO
CHIETI

Molecular diagnosis of Prader-Willi/Angelman syndrome
Università degli Studi "G. D'Annunzio" - CESI-Met
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

UMBRIA
PERUGIA

Molecular cytogenetic diagnosis of Prader-Willi/Angelman syndrome
Azienda Ospedaliera di Perugia - Centro di Ricerca Emato-Oncologica
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

SLOVENIA

SLOVENIA
LJUBLJANA

Cytogenetic diagnosis of Prader-Willi syndrome (by FISH analysis)
Univerzitetni klinicni center Ljubljana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SLOVENIA

SLOVENIA
POSTOJNA

Diagnosis of chromosome aneuploidy
Zavod za prenatalno in posnatalno diagnostiko
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of Prader-Willi syndrome (methylation status)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : BS-Pyrosequencing

GERMANY

Rheinland-Pfalz
KAISERSLAUTERN

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
Koc University, Faculty of Medicine
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
Koc University, Faculty of Medicine
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
HAIFA

Cytogenetic diagnosis of Aneuploidy (specific subtelomeres probes, 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
JERUSALEM

Cytogenetic diagnosis of Aneuploidy (specific subtelomeres probes, FISH analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
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

ISRAEL

ISRAEL
BEER YAAKOV

Cytogenetic diagnosis of Aneuploidy (specific chromosomes probes, 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

HUNGARY

Dél-Dunántúl
PECS

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

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

SERBIA

Serbia
BELGRADE

Prenatal and postnatal molecular cytogenetic diagnosis of chromosomal anomalies (by FISH)
Mother and Child Health Institute of Serbia "Dr Vukan Cupic"
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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

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

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

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

CANADA

Québec
QUÉBEC

Search of uniparental disomies by molecular analysis
CHUQ - Hôpital Saint-Francois d'Assise
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

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

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

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

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

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, Microsatellite 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

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

Diagnosis of Prader-Willi and Angelman syndromes determined by quantitative methylation analysis of 15q11-q13 locus
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : BS-Pyrosequencing

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