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FRANCE

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

Accreditation Diagnosis of Smith-Magenis syndrome
CHU de Saint-Etienne - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation Diagnosis of Smith-Magenis syndrome
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of Smith-Magenis syndrome
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of Smith-Magenis syndrome
GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

ILE-DE-FRANCE
LE CHESNAY

Accreditation Diagnosis of Smith-Magenis syndrome
CH de Versailles - Hôpital André Mignot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of Smith-Magenis syndrome
APHP - HUPC - Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

OCCITANIE
TOULOUSE

Accreditation Diagnosis of Smith-Magenis syndrome
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

GRAND-EST
REIMS

Accreditation Diagnosis of Smith-Magenis syndrome
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of Smith-Magenis syndrome (FISH analysis of RAI1 gene)
Hôpital Necker-Enfants Malades
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of Smith-Magenis syndrome
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of Smith-Magenis syndrome
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of Smith-Magenis syndrome
CHRU de Lille - Hôpital Jeanne de Flandre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

AUVERGNE-RHONE-ALPES
CHAMBERY

Accreditation Diagnosis of Smith-Magenis syndrome
CHMS Site Chambéry
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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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

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation Diagnosis of Smith-Magenis syndrome
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

CENTRE-VAL DE LOIRE
ORLEANS

Accreditation Diagnosis of Smith-Magenis syndrome
CHR d'Orléans - Site La Source
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation Diagnosis of Smith-Magenis syndrome
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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ITALY

TOSCANA
FIRENZE

Accreditation Postnatal molecular cytogenetics diagnosis of Smith-Magenis syndrome (determined by FISH)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Nordrhein-Westfalen
BONN

Accreditation Diagnosis of Smith-Magenis syndrome
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation Diagnosis of Smith-Magenis syndrome
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Thüringen
JENA

Accreditation Diagnosis of Smith-Magenis syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Bayern
MARTINSRIED

Accreditation Diagnosis of Smith-Magenis syndrome
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

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FRANCE

OCCITANIE
NÎMES

Accreditation Diagnosis of Smith-Magenis syndrome
CHU de Nîmes - Hôpital Carémeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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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

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Smith-Magenis syndrome
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques, FISH

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GERMANY

Niedersachsen
HANNOVER

Accreditation Diagnosis of Smith-Magenis syndrome
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation Molecular and molecular cytogenetics diagnosis of Smith-Magenis syndrome (17p11 deletion) (FISH; MLPA; microarray; entire coding region RAI1 gene)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Array based techniques, FISH

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Diagnosis of Smith-Magenis syndrome
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of Smith-Magenis syndrome
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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FINLAND

Finland
OULU

Accreditation Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Oulu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation Diagnosis of Smith-Magenis syndrome
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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GERMANY

Schleswig-Holstein
KIEL

Accreditation Diagnosis of Smith-Magenis syndrome
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation Molecular cytogenetics diagnosis (FISH) of Smith-Magenis syndrome (del 17p)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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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

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of Smith-Magenis syndrome
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation Molecular diagnosis of Smith-Magenis syndrome (RAI1 gene: full mutation screen and MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of Smith-Magenis syndrome
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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NETHERLANDS

Groningen
GRONINGEN

Accreditation Molecular diagnosis of Smit-Magenis Syndrome (RAI1 gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Rheinland-Pfalz
MAINZ

Accreditation Diagnosis of Smith-Magenis syndrome
Institut für Klinische Genetik Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Schleswig-Holstein
LÜBECK

Accreditation Diagnosis of Smith-Magenis syndrome
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by conventional karyotype and FISH analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

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GERMANY

Niedersachsen
GÖTTINGEN

Accreditation Diagnosis of Smith-Magenis syndrome
Institut für Humangenetik der Universität Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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GERMANY

Bayern
NEU-ULM

Accreditation Diagnosis of Smith-Magenis syndrome
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Smith-Magenis syndrome
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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IRELAND

County Dublin
DUBLIN

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by conventional karyotype and FISH analysis)
Our Lady's Children'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) : FISH, Karyotyping

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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

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UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by FISH analysis)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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FINLAND

Finland
HELSINKI

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (FISH at 17p11.2 locus)
Yhtyneet Medix Laboratoriot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Diagnosis of Smith-Magenis syndrome (RAI1 gene, MLPA region 17p11.2)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques

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FINLAND

Finland
TAMPERE

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome
FIMLab Laboratories
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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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

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UNITED KINGDOM

West Midlands
BIRMINGHAM

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

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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

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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) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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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

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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

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FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation Analysis of microdeletions/microduplications (by FISH)
CHU de Grenoble site Nord - Hôpital Couple-Enfant
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

BRETAGNE
BREST

Accreditation Diagnosis of Smith-Magenis syndrome (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

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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

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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

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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

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UNITED KINGDOM

Avon
BRISTOL

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by FISH at locus 17p11.2)
Southmead Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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UNITED KINGDOM

Norfolk
NORWICH

Accreditation Diagnosis of Smith-Magenis syndrome (by FISH analysis)
Norfolk and Norwich University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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UNITED KINGDOM

Cambridgeshire
ST NEOTS

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (FISH analysis)
The Aplastic Anaemia Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

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UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by FISH analysis at locus 17p11.2 & 17p13)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

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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

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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

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GERMANY

Baden-Württemberg
ULM

Accreditation Diagnosis of Smith-Magenis syndrome (MLPA)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Smith-Magenis syndrome (by MLPA, 5 probes in the 17p11.2 region)
The Doctors Laboratory Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

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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

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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

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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

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Intellectual Disability (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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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

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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

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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

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FRANCE

GRAND-EST
METZ

Accreditation Diagnosis of Smitn Magenis syndrome
CHR de Metz-Thionville
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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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

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of Smith-Magenis syndrome (RAI1 gene)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of Smith-Magenis syndrome (RAI1 gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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

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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

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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

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of Smith-Magenis syndrome (MLPA of region 17p11.2)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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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

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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

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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

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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

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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

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular and cytogenetic diagnosis of Smith-Magenis syndrome (RAI1 gene)
Reference Laboratory Genetics
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Sanger sequencing, MLPA based techniques, FISH

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Smith-Magenis Syndrome (RAI1 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

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of intellectual disability (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

GRAND-EST
STRASBOURG

Accreditation Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
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)

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FRANCE

NORMANDIE
ROUEN

Accreditation Diagnosis of intellectual disability (Panel)
CHU de Rouen
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of epilepsy (Panel)
Hôpital Necker-Enfants Malades
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)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

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

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Smith-Magenis syndrome (RAI1 gene)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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

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CANADA

Ontario
TORONTO

Accreditation Molecular Cytogenetic Diagnosis of Smith-Magenis Syndrome
North York General Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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CANADA

Ontario
MISSISSAUGA

Accreditation Molecular Cytogenetic Diagnosis of Smith-Magenis 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) : FISH

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Smith-Magenis syndrome (RAI1 gene)
Labor Lademannbogen
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

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FRANCE

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

Accreditation Diagnosis of intellectual disability (Panel ID44)
CHU de Saint-Etienne - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of intellectual disabilities (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of intellectual disability (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
Technique(s) : NGS sequencing (except WES)

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

BRETAGNE
BREST

Accreditation Diagnosis of intellectual disability (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Bayern
MARTINSRIED

Accreditation Diagnosis of autism spectrum disorders (NGS panel, 49 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of intellectual disability (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of autism spectrum disorders (100 genes panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation Diagnosis of intellectual disability (Panel ID286)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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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)

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SPAIN

Madrid
MAJADAHONDA

Accreditation Diagnosis of rare genetic intellectual disability
Instituto de Salud Carlos III. Campus de Majadahonda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation Diagnosis of intellectual disability (Panel ID44)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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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

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UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by array or FISH analysis)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

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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

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of intellectual disability and autism spectrum disorder (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation 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

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of intellectual disability and cerebellar malformation
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of rare developmental defect during embryogenesis
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation Diagnosis of intellectual disability (Clinical exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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NORWAY

Vestlandet
BERGEN

Accreditation Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Haukeland University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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UNITED KINGDOM

Greater London
LONDON

Accreditation Cytogenetic diagnosis of Smith-Magenis syndrome (by FISH at 17p11.2)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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SWEDEN

Skane
LUND

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (FISH at the RAI1 locus)
Skånes Universitetssjukhus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (FISH analysis)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of Smith-Magenis syndrome (RAI1 gene)
CeGaT GmbH
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

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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

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UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by FISH of RAI1)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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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

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CANADA

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

Accreditation Molecular Cytogenetic Diagnosis of Smith-Magenis Syndrome (mFISH SMS probe analysis)
Health Sciences Centre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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CANADA

Ontario
HAMILTON

Accreditation Molecular Cytogenetic Diagnosis of Smith-Magenis Syndrome (FISH Analysis)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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CANADA

Ontario
TORONTO

Accreditation Molecular Cytogenetic Diagnosis of Smith Magenis/Potocki-Lupski Syndrome (FISH RAI1)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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CANADA

Ontario
OTTAWA

Accreditation Molecular Cytogenetic Diagnosis of Smith-Magenis Syndrome (FISH)
Children's Hospital of Eastern Ontario
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of Smith-Magenis syndrome
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Diagnosis of Smith-Magenis syndrome
CHU de Dijon - Plateau technique de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

PAYS DE LA LOIRE
NANTES

Diagnosis of Smith-Magenis syndrome
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

NOUVELLE AQUITAINE
POITIERS

Diagnosis of Smith-Magenis syndrome
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

PAYS DE LA LOIRE
ANGERS

Diagnosis of Smith-Magenis syndrome
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

NORMANDIE
CAEN

Diagnosis of Smith-Magenis syndrome
CHU de Caen - Hôpital Clémenceau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Diagnosis of Smith-Magenis syndrome
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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FRANCE

BRETAGNE
RENNES

Diagnosis of Smith-Magenis syndrome
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

ILE-DE-FRANCE
BONDY

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

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FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

Diagnosis of Smith-Magenis syndrome
CHRU de Besançon - Hôpital Jean Minjoz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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FRANCE

OCCITANIE
QUINT FONSEGRIVES

Diagnosis of Smith-Magenis syndrome
Laboratoire Labosud Garonne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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ITALY

LIGURIA
GENOVA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LOMBARDIA
MONZA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LOMBARDIA
CREMONA

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera Istituti Ospitalieri di Cremona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LAZIO
ROMA

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

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ITALY

LOMBARDIA
CUSANO MILANINO

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

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ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
ASLRM1 - Centro per la tutela della Salute della Donna e del Bambino
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome (SMS gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Array based techniques

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ITALY

FRIULI VENEZIA GIULIA
PORDENONE

Diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera Santa Maria degli Angeli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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ITALY

LOMBARDIA
MILANO

Postnatal molecular cytogenetics diagnosis of Smith-Magenis syndrome (FISH analysis)
Università degli Studi di Milano - Biologia e Genetica per le Scienze Mediche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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ITALY

MARCHE
ANCONA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

VENETO
SARMEOLA DI RUBANO

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Laboratorio Analisi CITOTEST
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LOMBARDIA
VARESE

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

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ITALY

LOMBARDIA
BERGAMO

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
ASST Papa Giovanni XXIII
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LOMBARDIA
PAVIA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Università degli Studi di Pavia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

EMILIA ROMAGNA
PIEVESESTINA DI CESENA

Cytogenetic diagnosis of Smith-Magenis syndrome
AUSL Cesena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

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ITALY

EMILIA ROMAGNA
FERRARA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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SPAIN

Andalucía
SEVILLA

Diagnosis of Smith-Magenis syndrome (detecting the 3.7 Mb interstitial deletion in the 17p11.2 region)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

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AUSTRIA

OBERÖSTERREICH
LINZ

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
Kepler Universitätsklinikum - Med Campus IV.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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PORTUGAL

NORTE
PORTO

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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PORTUGAL

SUL
LISBOA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LOMBARDIA
SAN FERMO DELLA BATTAGLIA

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
ASST Lariana - Ospedale S.Anna di Como
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Diagnosis of Smith-Magenis syndrome
Institut für Humangenetik der Martin-Luther-Universität Halle Wittenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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PORTUGAL

NORTE
PORTO

Molecular cytogenetics diagnosis of Smith-Magenis syndrome (17p11.2): FISH/MLPA
Faculdade de Medicina da Universidade do Porto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : MLPA based techniques, FISH

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Smith-Magenis syndrome (RAI1 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

HAUTS-DE-FRANCE
AMIENS

Diagnosis of Smith-Magenis syndrome
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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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

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FRANCE

ILE-DE-FRANCE
LE BLANC MESNIL

Diagnosis of Smith-Magenis syndrome
Laboratoire d'analyses médicales Clément
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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ITALY

LOMBARDIA
BUSTO ARSIZIO

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
Toma Advanced Biomedical Assays S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of Smith-Magenis syndrome (17p11.2, RAI1 gene / exon 3)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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GREECE

ATTIKI
MAROUSI

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

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ITALY

TOSCANA
FIRENZE

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
TOULON

Diagnosis of Smith-Magenis syndrome
CHI Toulon La Seyne-sur-Mer - Hôpital Sainte Musse
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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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

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Cytogenetic diagnosis of Smith-Magenis syndrome (by conventional karyotype and FISH analysis)
Cambridge University Hospitals NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

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ITALY

VENETO
VICENZA

Molecular diagnosis of Smith-Magenis syndrome
ULSS 6 "Vicenza"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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

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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

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DENMARK

Syddanmark
VEJLE

Molecular diagnosis of Smith-Magenis syndrome (17p11.2 microdeletion detected by MLPA)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Tayside
DUNDEE

Cytogenetic diagnosis of Smith-Magenis syndrome (by FISH analysis)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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DENMARK

Sjælland
GLOSTRUP

Molecular cytogenetic diagnosis of Smith-Magenis syndrome (FISH analysis)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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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

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GERMANY

Hessen
GIEßEN

Diagnosis of Smith-Magenis syndrome
Institut für Humangenetik des UKGM am Standort Gießen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GERMANY

Hamburg
HAMBURG

Diagnosis of Smith-Magenis syndrome (MLPA)
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Bayern
NÜRNBERG

Diagnosis of Smith-Magenis syndrome
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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GREECE

ATTIKI
ATHENS

Molecular cytogenetic diagnosis of Smith-Magenis syndrome by FISH
Bioiatriki S.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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PORTUGAL

NORTE
PORTO

Molecular and cytogenetics diagnosis of Smith-Magenis syndrome (RAI1 gene: Sequencing of the entire coding region, FISH and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, FISH

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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

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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

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FRANCE

PAYS DE LA LOIRE
LE MANS

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

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FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of Smith-Magenis syndrome (by FISH)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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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

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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

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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

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TURKEY

TURKEY
ANKARA

Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by FISH)
Intergen Genetics Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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FRANCE

GRAND-EST
MULHOUSE

FISH analysis of microdeletions / microduplications
GHR Mulhouse Sud Alsace - Hôpital Emile Muller
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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UNITED KINGDOM

Lothian
EDINBURGH

Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by FISH analysis)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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POLAND

Bydgoszcz
BYDGOSZCZ

Cytogenetic diagnosis of chromosomal microdeletion syndromes (FISH on blood, bone marrow, gonadal tissue and skin samples)
Szpital Uniwersytecki im. dr. Antoniego Jurasza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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SPAIN

Aragón
ZARAGOZA

Diagnosis of Smith-Magenis syndrome
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, FISH

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Smith-Magenis syndrome (RAI1 gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Madrid
MADRID

Diagnosis of Smith-Magenis 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

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SPAIN

País Vasco
DERIO

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

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GREECE

ATTIKI
ATHENS

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

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GERMANY

Sachsen
DRESDEN

Diagnosis of Smith-Magenis syndrome (RAI1 gene: sequencing / MLPA)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Sachsen
DRESDEN

Diagnosis of microdeletion and microduplication syndromes by MLPA
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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ITALY

FRIULI VENEZIA GIULIA
UDINE

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

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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

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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

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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

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SPAIN

Madrid
MADRID

Diagnosis of Smith-Magenis syndrome (locus 17p11.2)
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, FISH

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SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular cytogenetics and molecular diagnosis of Smith-Magenis syndrome: diagnostic and prenatal testing (FISH 17p11.2), MLPA
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technique(s) : MLPA based techniques, FISH

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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

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Smith-Magenis syndrome (RAI1 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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

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SPAIN

País Vasco
SAN SEBASTIÁN

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

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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
Technique(s) : MLPA based techniques

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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

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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

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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

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SPAIN

Madrid
MADRID

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

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FRANCE

GRAND-EST
STRASBOURG

Diagnosis of Smith-Magenis and Potocki-Lupski syndromes (FISH)
CHU de Strasbourg - Nouvel Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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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

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PORTUGAL

CENTRO
OEIRAS

Prenatal and postnatal molecular genetic and cytogenetics diagnosis of Smith-Magenis syndrome (deletion/duplication analysis by MLPA, FISH)
Laboratório de Análises Clínicas Dr. Joaquim Chaves
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques, FISH

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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

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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

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SPAIN

Comunidad Valenciana
ALICANTE

Diagnosis of chromosomal anomalies (Detection of chromosome alterations large in size, array based techniques)
Hospital Clínica Vistahermosa
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Other

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ITALY

SICILIA
AVOLA

Diagnosis of Smith-Magenis syndrome
Laboratori Campisi s.r.l.
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

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GERMANY

Sachsen
DRESDEN

Diagnosis of Smith-Magenis syndrome (RAI1 gene)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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

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FRANCE

OUTRE-MER
SAINT-DENIS

Diagnosis of Smith-Magenis syndrome (FISH analysis)
CHU de la Réunion - Hôpital Félix Guyon
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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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

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SPAIN

Cataluña
SABADELL

Diagnosis of Smith-Magenis syndrome (RAI1 gene)
Corporación Sanitaria Parc Taulí
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

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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

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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

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CANADA

Alberta
CALGARY

Molecular Cytogenetic Diagnosis of Smith-Magenis Syndrome (mFISH SMS probe analysis)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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ITALY

EMILIA ROMAGNA
MODENA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome (determined by Prenatal BoBs)
TEST s.r.l.
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics

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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

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POLAND

Wroclaw
WROCLAW

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
Przychodnia Fundacji Uniwersytetu Medycznego we Wroclawiu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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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)

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FRANCE

NOUVELLE AQUITAINE
POITIERS

Diagnosis of intellectual disability (Panel ID44)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

NOUVELLE AQUITAINE
POITIERS

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

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Smith-Magenis syndrome (RAI1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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HUNGARY

Közép-Magyarország
DEBRECEN

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

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SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Smith-Magenis syndrome
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Madrid
MADRID

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

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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

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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

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of neurotransmitter defects and related diseases (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)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Rett syndrome and epilepsy (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)

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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

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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

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SPAIN

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)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of autosomal dominant 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)

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ITALY

VENETO
PADOVA

Diagnosis of intellectual disability/autism spectrum disorders [panel of genes]
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of epilepsy (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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of chromosomal anomalies
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of autism (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)

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of Smith-Magenis syndrome
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

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ITALY

PUGLIA
LECCE

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

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ITALY

EMILIA ROMAGNA
IMOLA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
AUSL di Imola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular cytogenetics diagnosis of Smith Magenis syndrome
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

CAMPANIA
NAPOLI

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera Universitaria "Federico II"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LAZIO
ROMA

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

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ITALY

VENETO
VERONA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome (SMS gene)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera San Giovanni Addolorata
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

CALABRIA
CATANZARO

Molecular cytogeneic diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera Pugliese Ciaccio
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

VENETO
BASSANO DEL GRAPPA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Ospedale "San Bassiano"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

VENETO
PADOVA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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SPAIN

Galicia
A CORUÑA

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Hospital Universitario da Coruña
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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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

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ITALY

SICILIA
TROINA

Cytogenetics molecular diagnosis of Smith-Magenis syndrome
IRCCS OASI Maria Santissima
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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PORTUGAL

NORTE
VILA REAL

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Centro Hospitalar de Vila Real-Peso da Régua, SA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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GERMANY

Bayern
BAD STEBEN

Diagnosis of Smith-Magenis syndrome
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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SWITZERLAND

Suisse Alémanique
BASEL

Molecular cytogenetics diagnosis (FISH) of Smith - Magenis Syndrome (17p11 del)
University Children's Hospital - UKBB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

LOMBARDIA
BOSISIO PARINI

Diagnosis of Smith-Magenis syndrome
IRCCS "E. Medea"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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ITALY

EMILIA ROMAGNA
REGGIO EMILIA

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
IRCCS Arcispedale Santa Maria Nuova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of Smith-Magenis syndrome
Praxis Dr. med. Ulrike Beudt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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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

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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

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ITALY

UMBRIA
PERUGIA

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
Azienda Ospedaliera di Perugia - Centro di Ricerca Emato-Oncologica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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GERMANY

Bayern
MÜNCHEN

Diagnosis of Smith-Magenis syndrome
Institut für Humangenetik der LMU-München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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SLOVENIA

SLOVENIA
LJUBLJANA

Cytogenetics diagnosis of Smith-Magenis syndrome (by FISH analysis)
University Medical Center Ljubljana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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TURKEY

TURKEY
ESKISEHIR

Molecular diagnosis of Microdeletion syndromes by MLPA and FISH analysis
Eskisehir Osmangazi University Medical Faculty
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, FISH

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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

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GERMANY

Rheinland-Pfalz
KAISERSLAUTERN

Diagnosis of Smith-Magenis syndrome
Med-Biolog-Labor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

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ISRAEL

ISRAEL
JERUSALEM

Cytogenetic diagnosis of Smith Magenis syndrome (FISH analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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ISRAEL

ISRAEL
HAIFA

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

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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

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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

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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

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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

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GREECE

ATTIKI
ATHENS

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

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POLAND

Warszawa
WARSAW

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

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GREECE

ATTIKI
ATHENS

Molecular diagnosis of Smith-Magenis syndrome by MLPA
Bioiatriki S.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

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ITALY

LOMBARDIA
MILANO

Molecular cytogenetic diagnosis of Smith-Magenis syndrome
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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ITALY

CAMPANIA
NAPOLI

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

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GREECE

ATTIKI
ATHENS

Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by FISH)
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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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

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ITALY

SICILIA
TROINA

Molecular diagnosis of Smith-Magenis syndrome (RAI1 gene)
IRCCS OASI Maria Santissima
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

SARDEGNA
SASSARI

Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Università degli Studi di Sassari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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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
Technique(s) : MLPA based techniques

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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

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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

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POLAND

Lodz
LODZ

Molecular cytogenetic diagnosis of Smith-Magenis syndrome by FISH
Centralny Szpital Kliniczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Smith-Magenis syndrome (RAI1 gene / deletion analysis in 17p11.2 region)
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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