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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular cytogenetic diagnosis of Beckwith-Wiedemann syndrome (FISH analysis of IGF2 gene)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, KCNQ1OT1, H19 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, BS-Pyrosequencing, Microsatellite analysis

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

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

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

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Beckwith Wiedemann syndrome (detection of loss of maternal methylation of the KvDMR1 locus and hypermethylation of the H19DMR locus and deletions and duplications of the 11p15.5 region by MS-MLPA)
Birmingham Women's NHS Foundation Trust
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

Sachsen
DRESDEN

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C and NSD1 genes; entire coding region, methylation analysis)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (11p15 microsatellite analysis for UPD, 11p15 methylation analysis ICR1 and ICR2, 11p15 MLPA 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

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

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Beckwith-Wiedemann Syndrome (CDKN1C, H19 and KCNQ1OT1 gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, 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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Array based techniques, Microsatellite analysis

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

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (MS-MLPA 11p15, UPD11)
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, Array based techniques

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (H19 and KCNQ1OT1 genes: 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

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

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene: sequencing of exon 1,2; KCNQ1OT1 gene: MLPA)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

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

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

Cambridgeshire
ST NEOTS

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members; H19, IGF2, KCNQ1OT1 genes: Targetted mutation analysis)
The Aplastic Anaemia Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

West Midlands
BIRMINGHAM

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

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (11p15.5 UPD analysis)
Center for Medical Genetics Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Beckwith-Wiedemann 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

Nordrhein-Westfalen
ESSEN

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (MS-MLPA, microsatellite analysis,)
Universitätsklinikum Essen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SWITZERLAND

Suisse Romande
LAUSANNE

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

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (D11S1301, D11S1318, D11S1338, D11S4046, 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

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

SPAIN

Asturias
OVIEDO

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

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome due to NSD1 mutation (NSD1 gene by MLPA and seq)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome
Université Catholique de Louvain - UCL
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene: MS-MLPA/microduplication 11p15)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
'Molecular diagnosis of Beckwith-Wiedemann syndrome (methylation analysis and MLPA region 11p15; CDKN1C, NSD1 genes: sequencing/MLPA)'
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Beckwith-Wiedemann Syndrome (by methylation, UPD analysis, DNA sequencing of CDKN1C)
The Hospital for Sick Children and University of Toronto
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, 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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, H19, KCNQ1OT1, NSD1 genes: sequencing, MLPA)
Pränatalmedizin München
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

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (panel)
Reference Laboratory Genetics
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
DORTMUND

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C-gene: sequencing, methylation analysis and MLPA region 11p15)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Molecular diagnosis of Beckwith-Wiedemann 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
Diagnostic of Beckwith-Wiedemann syndrome (H19 gene)
CHU Paris-Sud - Hôpital de Bicêtre
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 overgrowth syndrome (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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)

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (11p15.5)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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)

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of overgrowth syndrome (NGS screening panel, 9 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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)

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 Beckwith-Wiedemann syndrome (CDKN1C, H19, IGF2, NSD1 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

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of syndromal heart defects (NGS screening panel: 30 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (NSD1 gene)
CeGaT GmbH
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

AUSTRALIA

Victoria
MELBOURNE

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (KCNQ1OT1 and H19 genes: MS-MLPA)
Monash Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

AUSTRALIA

Victoria
MELBOURNE

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome due to CDKN1C mutation (CDKN1C gene: full mutation screen by sequencing)
Monash Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
CUSANO MILANINO

Molecular diagnosis of Beckwith-Wiedemann syndrome (H19, LIT1, UPD11, CDKN1C genes)
Istituto Auxologico Italiano
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, FISH

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Beckwith-Wiedemann syndrome
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
CUSANO MILANINO

Molecular cytogenetics diagnosis of Beckwith-Wiedemann syndrome
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Beckwith-Wiedeman syndrome (CDKN1C gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Postnatal molecular cytogenetics diagnosis of Beckwith-Wiedemann 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

SPAIN

Aragón
ZARAGOZA

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

ITALY

LOMBARDIA
VARESE

Molecular cytogenetic diagnosis of Beckwith-Wiedemann syndrome
A.O.U. Ospedale di Circolo e Fondazione Macchi - Università dell'Insubria
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

DENMARK

Sjælland
GLOSTRUP

Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene: methylation and UPD analyses)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation 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

LOMBARDIA
BUSTO ARSIZIO

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Cytogenetic diagnosis of Beckwith-Wiedemann 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

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

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene: MLPA/sequencing/methylation status)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, NSD1 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of Beckwith-Wiedemann syndrome (11p15 deletion, duplication and methylation defects detected by MLPA)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, KCNQ1OT1, H19 genes: 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

HUNGARY

Dél-Dunántúl
PECS

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

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of Beckwith-Wiedemann syndrome (KCNQ1OT1, H19, CDKN1C genes: MLPA)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
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 Beckwith-Wiedemann Syndrome: methylation analysis of H19 and KCNQ1OT1 genes
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

FRANCE

OCCITANIE
MONTPELLIER

Cytogenetics pre-natal and post-natal diagnosis of Beckwith-Wiedemann syndrome (by FISH)
CHRU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

PORTUGAL

SUL
LISBOA

Molecular diagnosis of Beckwith-Wiedemann 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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Beckwith-Wiedemann syndrome due to CDKN1C mutation (CDKN1C gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
BONDY

Cytogenetic diagnosis of Beckwith-Wiedemann syndrome (FISH analysis)
CHU Paris Seine-Saint-Denis - Hôpital Jean Verdier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SPAIN

Aragón
ZARAGOZA

Diagnosis of Beckwith-Wiedemann syndrome
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of Beckwith-Wiedemann syndrome
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques

SPAIN

País Vasco
DERIO

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

ITALY

LOMBARDIA
CREMONA

Molecular diagnosis of Beckwith-Wiedemann syndrome
Azienda Ospedaliera Istituti Ospitalieri di Cremona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of Beckwith-Wiedemann syndrome
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Beckwith-Wiedemann syndrome (MS-MLPA-microduplications/microdeletions and methylation at 11p15)
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

Cataluña
BARCELONA

Diagnosis of Beckwith-Wiedemann 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

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques, Microsatellite analysis

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 Beckwith-Wiedemann syndrome due to CDKN1C mutation (CDKN1C gene / entire coding sequence; MS-MLPA 11p15.5 region)'
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study
Technique(s) : MLPA based techniques

PORTUGAL

ILHAS
FUNCHAL

Cytogenetics molecular diagnosis of Beckwith-Wiedemann syndrome (11p15 duplication analysis by FISH)
Universidade da Madeira
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Beckwith-Wiedemann syndrome (NSD1 gene: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Alberta
CALGARY

Molecular Diagnsosis of Beckwith-Wiedemann Syndrome
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
ELCHE

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

FRANCE

NOUVELLE AQUITAINE
POITIERS

Diagnosis of intellectual disability (Panel ID275)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Beckwith-Wiedemann syndrome (H19, IGF2, and 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

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy (chromosome 2, 7, 11, 14, 15, 16)
Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene)
B.I.R.D. Foundation
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

CANADA

Alberta
CALGARY

Pediatric Cancer NGS Panel (12 genes)
Alberta Children's Hospital
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), PCR based techniques, MLPA based techniques, Array based techniques

CANADA

Alberta
CALGARY

Molecular Diagnosis of Overgrowth Syndrome - NGS Panel (6 genes)
Alberta Children's Hospital
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), PCR based techniques, MLPA based techniques, Array based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Beckwith-Wiedemann syndrome (H19 and KCNQ1OT1 genes)
medgen.at GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation 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 Beckwith-Wiedemann 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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, IGF2, and NSD1 gene)
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 Beckwith-Wiedemann 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)
Hospital Universitario 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 Beckwith-Wiedemann syndrome (NSD1, H19, IGF2, KCNQ1OT1, CDKN1C 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

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

TOSCANA
PISA

Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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), MLPA based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of overgrowth 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)

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)

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of Beckwith-Wiedemann syndrome (11p15 region ; CDKN1C, H19 and IGF2 genes)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomiy (11, 14, 15 chromosomes)
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Bayern
BAD STEBEN

Molecular and molecular cytogenetic diagnosis of Beckwith-Wiedemann syndrome
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Molecular diagnosis of Beckwith-Wiedemann syndrome
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CALABRIA
REGGIO CALABRIA

Molecular diagnosis of Beckwith-Wiedemann 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 Beckwith-Wiedemann syndrome (CDKN1C, H19, KCNQ1OT1 genes)
Karolinska Universitetsjukhuset - Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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 Beckwith Wiedemann Syndrome (11p; 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

GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene: 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

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Beckwith-Wiedemann syndrome (KCNQ1OT1, CDKN1C genes)
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, Uniparental disomy study, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques, Microsatellite analysis

SPAIN

País Vasco
VITORIA-GASTEIZ

Diagnosis of Beckwith-Wiedemann syndrome (region 11p15.5 (H19DMR, KvDMR))
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, Array 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

ITALY

PUGLIA
LECCE

Molecular cytogenetics diagnosis of Beckwith-Wiedemann syndrome
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

TUNISIA

TUNISIA
SOUSSE

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

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)