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BELGIUM

VLAAMS BRABANT
LEUVEN

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

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
Technical procedure(s) : Array based techniques

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Molecular cytogenetic diagnosis of Sotos syndrome
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular and molecular cytogenetics diagnosis of Sotos syndrome (entire coding region NSD1 gene/ MLPA; microarray; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques

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
Technical procedure(s) : Array based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1, SETD2 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques, FISH, Karyotyping

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Sotos Syndrome (NSD1 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular cytogenetic diagnosis of Sotos syndrome
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular cytogenetic diagnosis of Sotos syndrome
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene: sequence analysis and deletion screen by MLPA)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Medizinisches Versorgungszentrum Humane Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FINLAND

Finland
TAMPERE

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

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene: sequencing/ MLPA)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular cytogenetic diagnosis of Sotos syndrome
Institut für Klinische Genetik Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Molecular diagnosis of microdeletion syndromes (array-CGH)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

GERMANY

Bayern
WÜRZBURG

Accreditation
Microdeletion screening by MLPA
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene: sequencing / MLPA)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular and molecular cytogenetic diagnosis of Sotos syndrome (NSD1 gene: FISH and MLPA at 5q35)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technical procedure(s) : MLPA based techniques, FISH

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of microdeletion and microduplication syndromes by array CGH
Medizinisches Versorgungszentrum Humane Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene by MLPA and seq)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(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 chromosome alterations large in size
Technical procedure(s) : FISH, Karyotyping

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of Sotos syndrome (NFIX, NSD1 genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene: sequencing / MLPA)
GenteQ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Praxisgemeinschaft für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
AARGAU

Accreditation
Molecular diagnosis of SOTOS syndrome (NSD1 gene sequencing and deletion analysis)
Kantonsspital Aargau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

FRANCE

RHONE-ALPES
LYON

Accreditation
Molecular cytogenetic diagnosis of Sotos syndrome
Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

STEIERMARK
GRAZ

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Preimplantation molecular cytogenetic diagnosis of chromosomal anomalies, X-linked diseases and aneuploidy screening (by FISH or array CGH)
Institute for Women's Health
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Diagnosis of microdeletion and microduplication syndromes by array CGH
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Diagnosis of microdeletion and microduplication syndromes by array CGH
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene: sequencing of the entire coding region and deletion/duplication analysis by MLPA)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Center for Medical Genetics Ghent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technical procedure(s) : Array based techniques, FISH, Karyotyping

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular cytogenetics diagnosis of Sotos syndrome
Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Sotos syndrome (NFIX, NSD1 genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Caryotype moléculaire
Centre de Génétique Humaine - UCL. Cliniques universitaires Saint-Luc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
CHU de LIEGE - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technical procedure(s) : Array based techniques, FISH, Karyotyping

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of Sotos syndrome (NFIX, NSD1 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CANADA

Ontario
MISSISSAUGA

Accreditation
Molecular Confirmation of Microdeletion/Microduplication Syndrome (qPCR)
Trillium Health Partners- Credit Valley Site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : PCR based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of macrocephaly (AKT3, ASPA, DHCR24, EZH2, GCDH, GFAP, GPC3, HEPACAM, MED12, MLC1, NFIX, NSD1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN genes: Brain Development Disorders Panel)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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
Technical procedure(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
Technical procedure(s) : FISH

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Sotos Syndrome (NFIX and NSD1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technical procedure(s) : Array based techniques, FISH, Karyotyping

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Sotos syndrome (NSD1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of overgrowth syndrome (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

CANADA

Ontario
TORONTO

Accreditation
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (SNP Array)
North York General Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular Cytogenetic diagnosis of Sotos syndrome (by duplex FISH of NSD1)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
St George's University of London
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene: analysis of exons 5, 11-22 at first; MLPA and analysis of exons 3-4, 6-10 and part of exon 2 and 23)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Molecular cytogenetic diagnosis of microdeletion syndromes (by FISH)
GHU Paris-Sud - Hôpital Antoine Béclère
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

SWEDEN

Landstinget i Östergötland
LINKÖPING

Accreditation
Molecular diagnosis of microdeletion syndromes (genome-wide SNP array)
Universitetssjukhuset i Linköping
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene: by MLPA, 3 probes for the 5q35.3 region)
The Doctors Laboratory Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

CANADA

Québec
MONT-ROYAL, MONTRÉAL

Accreditation
Diagnosis of microdeletion and microduplication syndromes by array analysis
PROCREA Cliniques
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

GERMANY

Berlin
BERLIN

Accreditation
Molecular diagnosis of Sotos syndrome (NSD1 gene)
IFLb Laboratoriumsmedizin Berlin GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Cytogenetic Diagnosis of Partial Chromosome Deletion/Duplication (subtelomeric FISH)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

CANADA

Ontario
HAMILTON

Accreditation
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

CANADA

Ontario
OTTAWA

Accreditation
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
Children's Hospital of Eastern Ontario
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

FRANCE

LIMOUSIN
LIMOGES

Molecular cytogenetics diagnosis of microdeletion microduplication syndromes (caryotype, FISH)
CHU de Limoges - Hôpital de la mère et de l'enfant
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technical procedure(s) : FISH, Karyotyping

ITALY

LIGURIA
GENOVA

Molecular diagnosis of Sotos syndrome (NSD1 gene)
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of Sotos syndrome
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

ILE-DE-FRANCE
PARIS

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
Technical procedure(s) : Array based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Preimplantation and postnatal cytogenetic diagnosis of Sotos syndrome (FISH analysis of 5q35 microdeletions)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

FINLAND

Finland
TURKU

Molecular diagnosis of Sotos syndrome (NSD1 gene: sequencing, deletion analysis)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Sotos syndrome (NSD1 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Molecular cytogenetic diagnosis of Sotos syndrome (search for 5q35 microdeletion)
CHU Paris Centre - Maternité Port Royal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Sotos syndrome (NSD1 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Preimplantation genetic diagnosis of chromosomal anomalies
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics

GREECE

ATTIKI
MAROUSI

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

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
Technical procedure(s) : Array based techniques

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Cytogenetic diagnosis of Sotos 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
Technical procedure(s) : FISH, Karyotyping

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Search for deletions in NSD1 gene in Sotos syndrome (molecular cytogenetics)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

BRETAGNE
RENNES

Postnatal diagnosis of microdeletions and microduplications (by array-CGH)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

FRANCE

ALSACE
STRASBOURG

Preimplantation molecular cytogenetic 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

FRANCE

RHONE-ALPES
BRON

Diagnosis of microdeletion syndromes and chromosomal imbalances (by FISH and array-CGH)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques, FISH

GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of Sotos syndrome (NSD1 gene)
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

AUVERGNE
CLERMONT-FERRAND

FISH analysis of microdeletions / microduplications
CHU de Clermont-Ferrand - Hôpital d'Estaing
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

UNITED KINGDOM

Greater London
LONDON

Molecular cytogenetic diagnosis of Sotos syndrome (by FISH at 5q35)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

ITALY

PIEMONTE
TORINO

Molecular genetic diagnosis of genomic microdeletions-duplications by CGH-array
A.O. 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
Technical procedure(s) : Array based techniques

FRANCE

LANGUEDOC-ROUSSILLON
NÎMES

Molecular diagnosis of chromosomal cryptic microrearrangements by array-CGH
CHU de Nîmes - Hôpital Caremeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of Sotos syndrome (NSD1 gene: sequencing, MLPA)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

GREECE

ATTIKI
ATHENS

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

SPAIN

Andalucía
SEVILLA

Molecular diagnosis of Sotos syndrome (NSD1 gene / detecting the 5q35.3 deletion)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Sotos syndrome (NSD1 and NFIX genes: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

FRANCE

HAUTE-NORMANDIE
EVREUX

FISH analysis of microdeletion syndromes
LAM Saint-Pierre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

FRANCE

RHONE-ALPES
VALENCE

FISH analyses of microdeletions / microduplications
Centre hospitalier de Valence
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

FRANCE

PAYS DE LA LOIRE
LE MANS

FISH analyses of microdeletions / microduplications
Centre Hospitalier du Mans
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

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

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Diagnosis of microdeletions/microduplications by array-CGH
CHRU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Array-CGH analyses of microdeletions and microduplications
CHU de Nantes - Institut de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

FRANCE

CENTRE
TOURS

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

FRANCE

BRETAGNE
BREST

Molecular cytogenetic diagnosis of cryptic subtelomere rearrangements (FISH analysis)
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FRANCE

ILE-DE-FRANCE
POISSY

Molecular cytogenetic diagnosis of microdeletion syndromes (by FISH)
Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

UNITED KINGDOM

Lothian
EDINBURGH

Molecular cytogenetic diagnosis of Sotos syndrome (FISH analysis)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

PORTUGAL

NORTE
PORTO

Molecular cytogenetic diagnosis of Sotos syndrome (5q35): FISH/MLPA.
Faculdade de Medicina da Universidade do Porto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technical procedure(s) : MLPA based techniques, 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
Technical procedure(s) : MLPA based techniques, Array based techniques, FISH, Karyotyping

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Sotos syndrome (NSD1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Molecular cytogenetic diagnosis of Sotos syndrome (NSD1 gene)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

Aragón
ZARAGOZA

Cytogenetics and molecular diagnosis of Sotos syndrome (MLPA/FISH)
Hospital Universitario Miguel Servet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technical procedure(s) : MLPA based techniques, FISH

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Sotos syndrome (NSD1, NFIX genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
PISA

Postnatal molecular diagnosis of Sotos syndrome (NSD1 gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Madrid
MADRID

Molecular diagnosis of Sotos syndrome (NSD1 gene / MLPA KIT SALSA ME-026)
Fundación Jiménez Díaz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

SPAIN

País Vasco
DERIO

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

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Sotos syndrome (a-CGH, MLPA)
Leto Maternity Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques, Array based techniques

FRANCE

BRETAGNE
BREST

Molecular diagnosis of dysmorphological syndromes by CGH array
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

ITALY

FRIULI VENEZIA GIULIA
UDINE

Molecular cytogenetic diagnosis of Sotos syndrome
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

PORTUGAL

CENTRO
COIMBRA

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

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of mental retardation and autism by array-CGH
Faculdade de Medicina da Universidade de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Molecular diagnosis of microdeletion syndromes by MLPA (kit P245)
Hospital Universitario Son Espases
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Diagnosis of chromosomal anomalies
Centro de Diagnóstico Biomédico - CDB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques, FISH

SPAIN

Madrid
MADRID

Molecular diagnosis of Sotos syndrome: diagnostic and prenatal testing (NSD1 gene / MLPA)
Hospital Clínico San Carlos
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

GERMANY

Berlin
BERLIN

Diagnosis of microdeletion and microduplication syndromes by array CGH
Praxis für medizinische Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of microdeletion and microduplication syndromes by array CGH
Universitätsklinikum Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of microdeletion and microduplication syndromes by array CGH
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

SPAIN

Castilla - León
SALAMANCA

Diagnosis of chromosomal abnormalities
CIC - Centro de Investigación del Cáncer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Array based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Preimplantation molecular cytogenetic diagnosis of aneuploidies (chromosomes 5, 7, 9 / FISH)
Policlínica Gipuzkoa
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of microdeletions syndromes (MLPA kit P245)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of mental retardation syndromes (MLPA kit P064)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of Sotos syndrome (NSD1 gene / array-CGH)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

SPAIN

La Rioja
LOGROÑO

Molecular diagnosis of Sotos syndrome (NSD1 gene)
CIBIR - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Sjælland
GLOSTRUP

Molecular diagnosis of intellectual deficit due to microdeletions microduplications (SALSA MLPA kit P064)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Sjælland
GLOSTRUP

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

SPAIN

Madrid
MADRID

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

FRANCE

ALSACE
STRASBOURG

Molecular diagnosis of microdeletions / microduplications by CGH arrays
CHU de Strasbourg - Hôpital de Hautepierre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

SPAIN

Comunidad Valenciana
PATERNA

Preimplantation molecular cytogenetic diagnosis of chromosomal anomalies (FISH)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

SPAIN

Cataluña
BARCELONA

Molecular cytogenetics and molecular diagnosis of Sotos syndrome (array CGH, FISH, MLPA)
Hospital Universitari General Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques, Array based techniques, FISH

SPAIN

Cataluña
TERRASSA

Molecular diagnosis of Sotos syndrome (NSD1 gene: MLPA)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Sotos syndrome (NSD1 gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Sotos syndrome (NSD1 gene / entire coding sequence, MLPA)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of microdeletion/ microduplication syndromes (by array)
CHU Paris Centre - Maternité Port Royal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

FRANCE

BASSE-NORMANDIE
CAEN

Prenatal diagnosis of microdeletions and microduplications (array-CGH)
CHU de Caen - Hôpital Clémenceau
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

SPAIN

Comunidad Valenciana
ALICANTE

Preimplantation and postnatal molecular diagnosis of chromosomal anomalies (array-CGH)
Hospital Clínica Vistahermosa
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

FRANCE

OUTRE-MER
SAINT-DENIS

FISH analysis of microdeletions / microduplications
CHU de la Réunion - Hôpital Félix Guyon
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Sotos syndrome (NSD1 gene: sequencing / MLPA / QF-PCR / QMPSF)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
SABADELL

Molecular diagnosis of Sotos syndrome (NSD1 gene / arrayCGH)
Corporación Sanitaria Parc Taulí
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular and Cytogenetic diagnosis of Chromosomal Anomalies
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

CANADA

Alberta
CALGARY

Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

CANADA

Alberta
CALGARY

Molecular Cytogenetic Diagnosis of Sotos Syndrome/Cerebral Gigantism (mFISH NSD1 probe analysis)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

SPAIN

Cataluña
BARCELONA

Preimplantation molecular cytogenetic diagnosis of chromosomal anomalies, X-linked diseases and aneuploidy screening (by FISH or array CGH)
Consultorio Dexeus S.A.P.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques, FISH

ITALY

VENETO
LIMENA

Molecular diagnosis of microdeletion/microduplication syndromes (determined by array-CGH)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of Sotos syndrome (sequence analysis of the entire coding region of NSD1 gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Sotos syndrome (NSD1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Sotos syndrome (Panel)
CHU Paris Centre - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of predisposition to hemopathies (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

HUNGARY

Észak-Magyarország
DEBRECEN

Molecular cytogenetic diagnosis of SOTOS syndrome
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : MLPA based techniques, FISH

FRANCE

ILE-DE-FRANCE
BONDY

Cytogenetic and molecular diagnosis of mocrodeletional syndromes chromosomal desequilibrium (FISH and CGH arrays analysis)
CHU Paris Seine-Saint-Denis - Hôpital Jean Verdier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques, FISH

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
Technical procedure(s) : Array based techniques

ITALY

LAZIO
ROMA

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

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
Technical procedure(s) : Karyotyping

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Molecular cytogenetics diagnosis of Sotos syndrome : search for microdeletions in NSD1 gene
GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

ITALY

LAZIO
ROMA

Molecular genetic diagnosis of criptic rearrangements by array-CGH
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

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
Technical procedure(s) : Karyotyping

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Sotos (NSD1, Mutation analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technical procedure(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
Technical procedure(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
Technical procedure(s) : FISH

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of Sotos syndrome (NSD1 gene)
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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
Technical procedure(s) : FISH

GREECE

ATTIKI
ATHENS

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

GREECE

ATTIKI
ATHENS

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

FRANCE

ILE-DE-FRANCE
NEUILLY-SUR-SEINE

Molecular cytogenetic diagnosis of microdeletion syndromes
Laboratoire d'Eylau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

ITALY

CAMPANIA
NAPOLI

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

FRANCE

BRETAGNE
RENNES

Diagnosis of microdeletions and microduplications (Array-CGH)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

ROMANIA

BUCURESTI
BUCURESTI

Prenatal and postnatal molecular diagnosis of subtelomere rearrangments (subtelomeric screening for deletions/duplications by MLPA)
National institute of legal medicine
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

FRANCE

HAUTE-NORMANDIE
LE HAVRE

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

FRANCE

HAUTE-NORMANDIE
LE HAVRE

Diagnosis by FISH of sub-telomeric rearrangments
GH du Havre - Hôpital Jacques Monod
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of Sotos syndrome (entire coding sequence of NSD1 gene / deletions by MLPA analysis)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
BONDY

Cytogenetic diagnosis of Sotos syndrome (FISH analysis)
CHU Paris Seine-Saint-Denis - Hôpital Jean Verdier
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

ITALY

UMBRIA
PERUGIA

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

POLAND

Warszawa
WARSAW

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

POLAND

Warszawa
WARSAW

Molecular diagnosis of intellectual deficit syndromes (MLPA kits P064 & P096)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

POLAND

Warszawa
WARSAW

Molecular diagnosis of microdeletions syndromes (MLPA kit P245 & P297)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Sotos syndrome (NSD1 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
LECCE

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

FRANCE

PAYS DE LA LOIRE
NANTES

Preimplantation molecular cytogenetic 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

GERMANY

Berlin
BERLIN

Molecular diagnosis of Sotos syndrome (NSD1 gene. sequencing/ MLPA)
ATG GenMed GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Sotos Syndrome (NDS1 and FGFR4)
Children's University Hospital Zagreb
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

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