x

Search for a diagnostic test

* (*) mandatory field

124 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

FRANCE

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

Accreditation
Diagnosis of uniparental disomy 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

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
Search for maternal uniparental disomy of chromosome 7 and 11 (Silver-Russell syndrome) (D7S2201, D7S1824, D7S505, D7S513, D7S1870, D7S640, D7S820, D7S636, D7S1818, D11S1301, D11S1318, D11S1338, D11S4046, and TH01)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular 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

FRANCE

ILE-DE-FRANCE
LE CHESNAY

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Silver-Russell syndrome (H19, IGF2, GRB10, MEST genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Array based techniques, BS-Pyrosequencing, Microsatellite analysis

FINLAND

Finland
OULU

Accreditation
Molecular diagnosis of uniparental disomy of chromosomes 7, 14, 16 and 20
Oulu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

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

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

SWITZERLAND

Suisse Romande
GENÈVE

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Silver-Russell syndrome (UPD 7, UPD 14, UPD11 methylation sensitive MPLA and microsatellite analysis)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Silver-Russell syndrome (11p15 methylation analysis ICRI, MSMLPA analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

OCCITANIE
NÎMES

Accreditation
Molecular diagnosis of Silver-Russell syndrome (microduplication)
CHU de Nîmes - Hôpital Carémeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular diagnosis of uniparental disomy (UPD 7, 14 and 15)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Baden-Württemberg
MANNHEIM

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES

Accreditation
Molecular diagnosis of Silver-Russell Syndrome
Université Catholique de Louvain - UCL
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Silver-Russell Syndrome (H19 methylation and UPD7)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular diagnosis of Silver-Russell dwarfism (mUPD7)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Methylation analysis
Technique(s) : PCR based techniques, MLPA based techniques

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Molecular 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

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation
Molecular diagnosis of Silver-Russell syndrome (mUPD7)
MVZ Dr. Stein + Kollegen Mönchengladbach
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of uniparental disomy of chromosomes 6, 7, 11, 14, 15
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques, MLPA based techniques

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of Silver Russel syndrome (mUPD7; H19, IGF2 genes: methylation status)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, FISH

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Silver Russel syndrome (mUPD7 and methylation status 11p15.5)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Rheinland-Pfalz
MAINZ

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

GERMANY

Bayern
MÜNCHEN

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

UNITED KINGDOM

Cambridgeshire
ST NEOTS

Accreditation
Molecular diagnosis of Silver-Russell syndrome (H19 gene: Targetted mutation analysis by MSMLPA; UPD7 gene: Gene tracking)
The Aplastic Anaemia Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Silver Russel syndrome (11p15.5: LIT1 & H19 genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of Silver-Russell syndrome (methylation status, 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

Nordrhein-Westfalen
ESSEN

Accreditation
Molecular diagnosis of Silver Russel syndrome (IGF2, H19, PEG1 genes: MS-MLPA, MS-PCR)
Universitätsklinikum Essen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

ITALY

TOSCANA
FIRENZE

Accreditation
Antenatal and postnatal molecular diagnosis of Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis (MS-MLPA) of Beckwith-Wiedemann and Silver-Russel syndromes
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis (MS-MLPA) of Silver - Russell syndrome (maternal UPD7)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

SPAIN

Asturias
OVIEDO

Accreditation
Diagnosis of Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Hospital Universitario Central de Asturias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of Silver-Russell syndrome (methylation status, MLPA)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

BRETAGNE
BREST

Accreditation
Molecular 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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Silver-Russell syndrome (by H19 methylation MLPA and Copy Number Analysis and UPD 7 STR 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

AUSTRIA

OBERÖSTERREICH
LINZ

Accreditation
Molecular diagnosis of Beckwith-Wiedemann/Silver-Russell syndromes (11p15 region)
Krankenhaus der Barmherzigen Schwestern Linz
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 Silver-Russell Syndrome (UPD7 and methylation analysis (PCR based techniques))
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Silver-Russell Syndrome (H19 gene: Targetted mutation analysis (Methylation analysis of H19)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of Silver-Russell syndrome (methylation status, MLPA)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Molecular diagnosis of Silver-Russell syndrome (H19 and KCNQ1OT1 genes: methylation status/MLPA)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Molecular diagnosis of Silver-Russell syndrome (H19 gene: 11p15.5 region)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Silver-Russell syndrome (CDKN1C, H19 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

NORMANDIE
CAEN

Accreditation
Microsatellite instability detection
Centre François Baclesse
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Uniparental disomy study
Technique(s) : NGS sequencing (except WES), PCR based techniques, Microsatellite analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

IRELAND

County Dublin
DUBLIN

Accreditation
Molecular Diagnosis of Russell Silver Syndrome
Our Lady's Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Bayern
WÜRZBURG

Accreditation
Molecular diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of uniparental disomy (7, 14, 15)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular 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

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of Imprinting syndromes and related disorders (NGS screening panel, 24 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of Silver-Russell syndrome (CDKN1C, H19, IGF2 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Array based techniques

UNITED KINGDOM

Greater London
HARROW

Accreditation
Diagnosis of Russell-Silver syndrome (UPD7 studies, STR markers)
North West London Hospitals NHS - Northwick Park & St Marks Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Silver-Russell syndrome (MS-MLPA of H19, UPD7 analysis by linked markers)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Silver-Russell Syndrome (SRS) by gene tracking (Genes: CDKN1C, H19, UPD7)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Accreditation
Molecular diagnosis of Silver-Russell Syndrome (Uniparental Disomy 7) (UPD7 gene tracking)
LAM Action Nottingham, Voluntary Action Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

AUSTRALIA

Victoria
MELBOURNE

Accreditation
Molecular diagnosis of Silver-Russell syndrome due to imprinting defect of 11p15 (H19 gene: MS-MLPA)
Monash Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

GERMANY

Bayern
ERLANGEN

Molecular diagnosis of uniparental disomy of chromosomes 7, 14 and 16
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

SPAIN

Aragón
ZARAGOZA

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

SPAIN

Cataluña
BARCELONA

Diagnosis of Silver-Russell syndrome
Hospital Clínic de Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

LIGURIA
GENOVA

Molecular diagnosis of Silver-Russell dwarfism
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
CUSANO MILANINO

Molecular diagnosis of Silver-Russell dwarfism (H19, UPD7 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

FRANCE

NORMANDIE
CAEN

Diagnosis of uniparental disomy of chromosomes 7, 14 and 15 by studying microsatellites (study of Copy Number Variation)
CHU de Caen - Hôpital Clémenceau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

DENMARK

Hovedstaden
COPENHAGEN

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

ITALY

PIEMONTE
TORINO

Molecular diagnosis of uniparental disomy (chromosomes 7, 11, 14, 15 and 16)
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Molecular cytogenetic diagnosis of Silver-Russell 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

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of Silver-Russell syndrome (11p15 deletion, duplication and methylation defects detected by MLPA; uniparental disomy of chromosome 7)
Sygehus Lillebaelt Vejle 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

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

DENMARK

Sjælland
GLOSTRUP

Molecular diagnosis of Silver-Russell syndrome (methylation and UPD analyses)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

HUNGARY

Dél-Dunántúl
PECS

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

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of Silver-Russell syndrome (H19, IGF2 genes: methylations status, MLPA, mUPD7)
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Andalucía
MÁLAGA

Diagnosis of Silver-Russell syndrome due to an imprinting defect of 11p15 (H19 gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

POLAND

Warszawa
WARSAW

Molecular diagnosis of Silver-Russell and Beckwith-Wiedemann syndrome (MS-MLPA: imprinting defects at 11p15; maternal UPD7)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Silver-Russell syndrome: methylation analysis of H19 gene
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

PORTUGAL

SUL
LISBOA

Molecular diagnosis of Silver-Russell syndrome (MS-MLPA for 11p15)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : MLPA based techniques

ITALY

TOSCANA
PISA

Diagnosis of Silver-Russel syndrome (microsatellite analysis and MLPA)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

GERMANY

Bayern
ERLANGEN

Molecular diagnosis of Silver Russel syndrome (mUPD7 and methylation status 11p15.5)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

SPAIN

Madrid
MADRID

Diagnosis of Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, Array based techniques

SPAIN

Madrid
MADRID

Diagnosis of Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, Array based techniques

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 Silver-Russel syndrome (MS-MLPA-microduplications/microdeletions and methylation at 11p15/uniparental disomy for Chr7)
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

Comunidad Valenciana
PATERNA

Molecular diagnosis of Silver-Russell syndrome (H19 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Diagnosis of Silver-Russell syndrome
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
TERRASSA

Diagnosis of Silver-Russell and Beckwith-Wiedemann syndromes
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

PORTUGAL

CENTRO
OEIRAS

Molecular genetic diagnosis of Beckwith-Wiedmann and Silver-Russel syndromes: deletion/duplication analysis by MLPA, MS-MLPA and prenatal testing)
Laboratório de Análises Clínicas Dr. Joaquim Chaves
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Silver-Russell syndrome due to imprinting defect of 11p15 (H19, IGF2 genes / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

LAZIO
ROMA

Molecular diagnosis of Silver-Russell
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Alberta
CALGARY

Molecular Diagnosis of Russel Silver Syndrome (UPD7 and H19 MLPA)
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

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Russell-Silver Syndrome (UPD 7)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Silver-Russell syndrome (IGF2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Silver-Russell syndrome (H19 and IGF2 genes, UPD7)
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

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Silver-Russell syndrome (H19, IGF2, CDKN1C genes)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

AUSTRIA

SALZBURG
SALZBURG

Molecular diagnosis of Silver-Russell syndrome
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Hamburg
HAMBURG

Molecular and molecular cytogenetic diagnosis of Silver-Russell syndrome
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Silver-Russell syndrome (CDKN1C and IGF2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Silver-Russell syndrome (CDKN1C gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of hereditary cancer (panel)
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of inherited cancer risk (panel)
ICO Hospitalet - Hospital Duran i Reynals
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Pharmacogenetics, Somatic genetics, Risk assessment
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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Silver-Russell syndrome (CDKN1C, IGF2, H19 genes)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

LOMBARDIA
PAVIA

Diagnosis of disproportionate/syndromic short stature and skeletal dysplasia [panel of genes]
Microgenomics S.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of inherited cancer-predisposing syndrome (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

ITALY

LAZIO
ROMA

Molecular diagnosis of Silver-Russell dwarfism (H19 gene)
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of Silver-Russell dwarfism (search for methylation abnormalities of 11p15 region and for chromosome 7 disomy ; CDKN1C and IGF2 genes)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : 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, MLPA based techniques, Microsatellite analysis

GERMANY

Bayern
BAD STEBEN

Molecular diagnosis of Silver-Russell syndrome (mUPD7)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

CALABRIA
REGGIO CALABRIA

Molecular diagnosis of Silver Russel syndrome
Azienda Ospedaliera BMM
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
REGGIO EMILIA

Molecular diagnosis of uniparental disomy (chromosomes 7, 11, 14, 15)
IRCCS Arcispedale Santa Maria Nuova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of uniparental disomy
Karolinska Universitetsjukhuset - Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ISRAEL

ISRAEL
JERUSALEM

'Molecular diagnosis of Russell Silver Syndrome (Chromosome 7; 11; 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

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Silver-Russell syndrome (microsatellite analysis)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Olomouc
OLOMOUC

Molecular diagnosis of Silver-Russell syndrome (RSS gene)
University hospital Olomouc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of Silver-Russell syndrome (MLPA)
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

País Vasco
VITORIA-GASTEIZ

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

GERMANY

Berlin
BERLIN

Molecular diagnosis of cancer (NGS screening panel, 402 genes)
ATG GenMed GmbH
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Array-CGH in case of unexplained developmental delay
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

TUNISIA

TUNISIA
SOUSSE

Molecular diagnosis of Silver-Russell syndrome (11p15.1, UPD7: MS-MLPA)
CHU Farhat Hached
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Silver-Russell syndrome
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

ITALY

LOMBARDIA
MILANO

Diagnosis of Beckwith-Wiedemann and Silver-Russell syndromes (CDKN1C gene)
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

La Rioja
LOGROÑO

Diagnosis of hereditary cancer (panel)
Hospital San Pedro
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)