x

Search for a diagnostic test

* (*) mandatory field

117 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of intellectual deficiency and congenital malformation (cryptic subtelomeric and intercalated anomalies by array CGH)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Accreditation
Diagnosis of microdeletion microduplication syndromes
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
Technique(s) : FISH, Karyotyping

FRANCE

ILE-DE-FRANCE
PARIS

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

SWITZERLAND

Suisse Romande
LAUSANNE

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

SWITZERLAND

Suisse Romande
GENÈVE

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of chromosomal anomalies
Institut de Pathologie et de Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH, Karyotyping

FRANCE

BRETAGNE
RENNES

Accreditation
Diagnosis of microdeletions and microduplications (by array-CGH)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
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
Technique(s) : FISH

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
MLPA analysis of microdeletion syndrome regions
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

OCCITANIE
NÎMES

Accreditation
Diagnosis of chromosomal cryptic microrearrangements by array-CGH
CHU de Nîmes - Hôpital Carémeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
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
Technique(s) : Array based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis pangenomic of constitutional anomalies by molecular cytogenetic (FISH) and CGHarrays
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : 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

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
Technique(s) : MLPA based techniques

FRANCE

CENTRE-VAL DE LOIRE
TOURS

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

FRANCE

BRETAGNE
BREST

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

FRANCE

ILE-DE-FRANCE
POISSY

Accreditation
Diagnosis of microdeletion syndromes
Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
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
Technique(s) : FISH

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of microdeletion and microduplication syndromes by array CGH
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

NETHERLANDS

Gelderland
NIJMEGEN

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

FRANCE

BRETAGNE
BREST

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

NETHERLANDS

Gelderland
NIJMEGEN

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

NETHERLANDS

Gelderland
NIJMEGEN

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

GERMANY

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
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

GERMANY

Nordrhein-Westfalen
BONN

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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Koolen-De Vries Syndrome (KANSL1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Center for Medical Genetics Gent
Purpose(s) : 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, Karyotyping

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of microdeletion/ microduplication syndromes (by array)
APHP - HUPC - Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular and cytogenetic diagnosis of chromosomal anomalies
CHU de LIEGE - UniLab Lg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(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
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

CANADA

Ontario
MISSISSAUGA

Accreditation
Molecular Cytogenetic Diagnosis of Microdeletion/Microduplication Syndrome
Trillium Health Partners- Credit Valley Site
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

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

GERMANY

Schleswig-Holstein
KIEL

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

SPAIN

Cataluña
VILADECAVALLS

Accreditation
Diagnosis of 17q21.31 microdeletion syndrome
Catlab
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

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

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Centrum Medische Genetica - UZA
Purpose(s) : 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, Karyotyping

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of malformation syndrome with cleft palate (Panel)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
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)

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
Technique(s) : Array based techniques

SPAIN

Murcia
EL PALMAR

Accreditation
Diagnostic pangenomic of constitutional anomalies
Centro de Bioquímica y Genética Clínica
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular cytogenetic diagnosis of 17q21.31 microdeletion syndrome
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of mental retardation and dysmorphology (NGS screening panel, 353 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

Greater Manchester
MANCHESTER

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

FRANCE

ILE-DE-FRANCE
PARIS

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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Cytogenetic diagnosis of Monosomy 17q21.31 (by FISH analysis)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(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
Technique(s) : Array 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
Technique(s) : Array based techniques

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
Technique(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
Technique(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
Technique(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
Technique(s) : Array based techniques

FRANCE

ILE-DE-FRANCE
BONDY

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
Technique(s) : Array based techniques, FISH

SPAIN

Cataluña
BARCELONA

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

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
Technique(s) : Array based techniques

FRANCE

GRAND-EST
STRASBOURG

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

AUVERGNE-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
Technique(s) : Array based techniques, FISH

ITALY

PIEMONTE
TORINO

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

FRANCE

ILE-DE-FRANCE
NEUILLY-SUR-SEINE

Diagnosis of microdeletion syndromes
Laboratoire d'Eylau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

NORMANDIE
EVREUX

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

FRANCE

OCCITANIE
MONTPELLIER

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

FRANCE

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

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
Technique(s) : Array based techniques

POLAND

Warszawa
WARSZAWA

Cytogenetic diagnosis of constitutional chromosomal abnormalities (microdeletion/ microduplication syndromes by FISH, MLPA, array CGH: MLPA kits P245, P297, P036)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques, FISH, Karyotyping

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of 17q21.31 microdeletion syndrome
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SPAIN

Madrid
MADRID

Diagnosis of 17q21.31 microdeletion 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

GREECE

ATTIKI
ATHENS

Molecular diagnosis of 17q21.31 microdeletion syndrome (MLPA, a-CGH)
Leto Maternity Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
DERIO

Molecular diagnosis of 17q21.31 microdeletion syndrome (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technique(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
Hospital Clínic de Barcelona
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
Technique(s) : Array based techniques, FISH

SPAIN

Madrid
MADRID

Diagnosis of 17q21.31 microdeletion syndrome (locus 17q21.31)
Hospital Clínico San Carlos
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques

GERMANY

Berlin
BERLIN

Diagnosis of microdeletion and microduplication syndromes by array CGH
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

SPAIN

Castilla - León
SALAMANCA

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

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of microdeletions syndromes (MLPA kit P245)
Policlínica Gipuzkoa
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
Technique(s) : FISH

DENMARK

Sjælland
GLOSTRUP

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

FRANCE

GRAND-EST
STRASBOURG

Diagnosis of microdeletions / microduplications by CGH arrays
CHU de Strasbourg - Nouvel Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(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
Technique(s) : FISH

SPAIN

Cataluña
BARCELONA

Diagnosis of 17q21.31 microdeletion syndrome
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

FRANCE

PAYS DE LA LOIRE
NANTES

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

FRANCE

NORMANDIE
CAEN

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
Technique(s) : Array based techniques

ITALY

LAZIO
ROMA

Diagnosis of partial deletion of chromosome 17
Istituto CSS-Mendel
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

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
Technique(s) : FISH

SPAIN

Cataluña
SABADELL

Diagnosis of Koolen-De Vries syndrome (KANSL1 gene)
Corporación Sanitaria Parc Taulí
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular and Cytogenetic diagnosis of Chromosomal Anomalies
Universitair Ziekenhuis Brussel - UZ Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications, Chromosomal instability, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques, FISH, Karyotyping, Whole Exome Sequencing (WES), Chromosome breakage analysis

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of 17q21.31 microdeletion syndrome (KANSL1 gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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
Technique(s) : Array based techniques

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
Technique(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

POLAND

Gdansk
GDANSK

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

HUNGARY

Közép-Magyarország
DEBRECEN

Molecular cytogenetic diagnosis of deletion 17q21
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of 17q21.31 microdeletion syndrome (KANSL1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

ITALY

VENETO
PADOVA

Molecular diagnosis of rare epilepsy [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

ITALY

LOMBARDIA
PAVIA

Diagnosis of multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Microgenomics S.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

SPAIN

Cataluña
GIRONA

Diagnosis of autosomal anomaly
Hospital Universitari de Girona Dr. Josep Trueta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

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

FRANCE

OCCITANIE
MONTPELLIER

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

FRANCE

OCCITANIE
MONTPELLIER

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

ITALY

PUGLIA
CARBONARA DI BARI

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

SLOVENIA

SLOVENIA
MARIBOR

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

ITALY

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
Technique(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
Technique(s) : Karyotyping

ISRAEL

ISRAEL
HAIFA

Cytogenetic diagnosis of Aneuploidy (specific subtelomeres probes, FISH analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ISRAEL

ISRAEL
JERUSALEM

Cytogenetic diagnosis of Aneuploidy (specific subtelomeres probes, FISH analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ISRAEL

ISRAEL
BEER YAAKOV

Cytogenetic diagnosis of Aneuploidy (specific chromosomes probes, FISH analysis)
Assaf Harofeh Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SERBIA

Serbia
BELGRADE

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

GREECE

ATTIKI
ATHENS

Molecular diagnosis of monosomy 17q21.31 by MLPA
Mitera General, Maternity and Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA 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
Technique(s) : MLPA based techniques

ITALY

UMBRIA
PERUGIA

Molecular cytogenetic diagnosis of 17q21.31 microdeletion syndrome
Azienda Ospedaliera di Perugia - Centro di Ricerca Emato-Oncologica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

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

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
Technique(s) : Array based techniques

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of 17q21 microdeletion syndrome
Children's University Hospital Zagreb
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Koolen-De Vries syndrome (KANSL1 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing