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NOUVELLE AQUITAINE
LIMOGES
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)
: Array based techniques, FISH, Karyotyping

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
Technique(s)
: Array based techniques

HAINAUT
GOSSELIES
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

BRETAGNE
RENNES
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

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

AUVERGNE-RHONE-ALPES
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
Technique(s)
: FISH

Rheinland-Pfalz
MAINZ
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

OCCITANIE
NÎMES
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

Bayern
MÜNCHEN
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

PROVENCE-ALPES-COTE D'AZUR
NICE
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

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

Bayern
WÜRZBURG
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

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

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

CENTRE-VAL DE LOIRE
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
Technique(s)
: FISH

BRETAGNE
BREST
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

ILE-DE-FRANCE
POISSY
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

ILE-DE-FRANCE
CLAMART
Diagnosis of microdeletion syndromes (by FISH)
Hôpital Antoine Béclère
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: FISH

Region Östergötland
LINKÖPING
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

Bayern
MÜNCHEN
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

Gelderland
NIJMEGEN
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

Suisse Romande
LAUSANNE
Diagnostic moléculaire de maladies liées au gène HNF1
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Nordrhein-Westfalen
BOCHUM
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

Nordrhein-Westfalen
BONN
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

Schleswig-Holstein
KIEL
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

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

OOST-VLAANDEREN
GENT
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

ILE-DE-FRANCE
PARIS
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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
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

LIEGE
LIEGE
Molecular and cytogenetic diagnosis of chromosomal anomalies
CHU de Liège - 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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
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

Ontario
MISSISSAUGA
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

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of MODY (CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4 genes)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Nordrhein-Westfalen
AACHEN
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

Schleswig-Holstein
KIEL
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of microdeletion / microduplication syndromes
Hôpital Saint-Joseph
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications

ANTWERPEN
ANTWERPEN-EDEGEM
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

ILE-DE-FRANCE
PARIS
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

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

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

AUVERGNE-RHONE-ALPES
GRENOBLE
Diagnosis of microdeletion microduplication syndromes
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: MLPA based techniques

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

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

Québec
MONT-ROYAL, MONTRÉAL
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

Terre-Neuve-et-Labrador
ST. JOHN'S
Molecular Cytogenetic Diagnosis of Partial Chromosome Deletion/Duplication (subtelomeric FISH)
Health Sciences Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Technique(s)
: FISH

Ontario
HAMILTON
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

Ontario
TORONTO
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

Ontario
OTTAWA
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

Ontario
TORONTO
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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies
Universitair Ziekenhuis 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

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

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)

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

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

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

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
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

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
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
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
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
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

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

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

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

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

Nordrhein-Westfalen
BONN
Diagnosis of microdeletion and microduplication syndromes by array CGH
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

Alberta
CALGARY