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329 Result(s)
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AUVERGNE-RHONE-ALPES
BRON
Diagnosis of Smith-Magenis syndrome
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

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

GRAND-EST
VANDOEUVRE-LÈS-NANCY
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

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

HAUTS-DE-FRANCE
LILLE
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

ILE-DE-FRANCE
LE CHESNAY
Diagnosis of Smith-Magenis syndrome
CH de Versailles - Hôpital André Mignot
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

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

OCCITANIE
TOULOUSE
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

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

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

GRAND-EST
REIMS
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

ILE-DE-FRANCE
PARIS
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

ILE-DE-FRANCE
PARIS
Diagnosis of Smith-Magenis syndrome
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of Smith-Magenis syndrome
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH

HAUTS-DE-FRANCE
LILLE
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

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

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

ILE-DE-FRANCE
PARIS
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

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

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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
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

TOSCANA
FIRENZE
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

Nordrhein-Westfalen
BONN
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

Baden-Württemberg
HEIDELBERG
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

Thüringen
JENA
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

Bayern
MARTINSRIED
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

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

NOUVELLE AQUITAINE
LIMOGES
Diagnosis of microdeletion microduplication syndromes
CHU de Limoges - Hôpital de la mère et de l'enfant
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s)
: Array based techniques, FISH, Karyotyping

Bayern
MÜNCHEN
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

Niedersachsen
HANNOVER
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

Suisse Alémanique
SCHLIEREN
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

Suisse Romande
GENÈVE
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

Rheinland-Pfalz
INGELHEIM AM RHEIN
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

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

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

Nordrhein-Westfalen
BOCHUM
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

Suisse Romande
LAUSANNE
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

Schleswig-Holstein
KIEL
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

Suisse Romande
LAUSANNE
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

Suisse Romande
GENÈVE
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

Sachsen
DRESDEN
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

Suisse Alémanique
SCHLIEREN
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

Wiltshire
SALISBURY
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

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

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

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

Schleswig-Holstein
LÜBECK
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

South Glamorgan
CARDIFF
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

Niedersachsen
GÖTTINGEN
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

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

Bayern
NEU-ULM
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

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

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
FISH analysis of microdeletions / microduplications
CHU de Clermont-Ferrand - Hôpital d'Estaing
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: FISH

Bayern
MÜNCHEN
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

County Dublin
DUBLIN
Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by conventional karyotype and FISH analysis)
Children's Health Ireland @ Crumlin
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

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

Merseyside
LIVERPOOL
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

Finland
HELSINKI
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

Baden-Württemberg
MANNHEIM
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

Finland
TAMPERE
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

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

Bayern
MÜNCHEN
Diagnosis of microdeletion and microduplication syndromes by FISH and array CGH
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques, FISH

West Midlands
BIRMINGHAM
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

PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of microdeletion syndromes (array-CGH)
CHU de Nice - Hôpital l'Archet 2
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

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

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

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

OCCITANIE
MONTPELLIER
Diagnosis of Smith-Magenis syndrome (by FISH)
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)
: FISH

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

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

Region Skåne
LUND
Diagnosis of Smith-Magenis syndrome (FISH at the RAI1 locus)
Lunds Universitetssjukhus -Klinisk Genetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: FISH

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

AUVERGNE-RHONE-ALPES
GRENOBLE
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

BRETAGNE
BREST
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

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

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

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

Baden-Württemberg
TÜBINGEN
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

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

Avon
BRISTOL
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

Norfolk
NORWICH
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

Cambridgeshire
ST NEOTS
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

Antrim and Newtownabbey
BELFAST
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)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH

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

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

Baden-Württemberg
ULM
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

Greater London
LONDON
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

BRETAGNE
BREST
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

Gelderland
NIJMEGEN
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

Gelderland
NIJMEGEN
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

Gelderland
NIJMEGEN
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)

Nordrhein-Westfalen
BOCHUM
Diagnosis of microdeletion and microduplication syndromes by array CGH
Ruhr-Universität Bochum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

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

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

GRAND-EST
METZ
Diagnosis of Smitn Magenis syndrome
CHR de Metz-Thionville
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH

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

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

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

PROVENCE-ALPES-COTE D'AZUR
NICE
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

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

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

Baden-Württemberg
FREIBURG
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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Caryotype moléculaire
Centre de Génétique Humaine - UCL. Cliniques universitaires Saint-Luc
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies
Erasme Hospital - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

Nordrhein-Westfalen
DORTMUND
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

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

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

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

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

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

Cataluña
L'HOSPITALET DE LLOBREGAT
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

Gelderland
NIJMEGEN
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

NOUVELLE AQUITAINE
BORDEAUX
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

GRAND-EST
STRASBOURG
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)

NORMANDIE
ROUEN
Diagnosis of intellectual disability (Panel)
CHU de Rouen
Purpose(s)
: Antenatal diagnosis, 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

ILE-DE-FRANCE
PARIS
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)

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
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)

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)

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)

Bayern
MÜNCHEN
Diagnosis of Smith-Magenis syndrome (RAI1 gene)
Pränatal-Medizin München MVZ GmbH
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

Ontario
MISSISSAUGA
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

Hamburg
HAMBURG
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

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

ILE-DE-FRANCE
PARIS
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)

TIROL
INNSBRUCK
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

BRETAGNE
BREST
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)

Bayern
MARTINSRIED
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

Cataluña
L'HOSPITALET DE LLOBREGAT
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
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)

GRAND-EST
REIMS
Diagnosis of autism spectrum or intellectual disabilities with hirsutism (Panel)
CHU de Reims - Hôpital Maison Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

CENTRE-VAL DE LOIRE
TOURS
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)

Bayern
MÜNCHEN
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)

Madrid
MAJADAHONDA
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)

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnosis of intellectual disability (Panel ID46)
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, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Greater Manchester
MANCHESTER
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

Greater Manchester
MANCHESTER
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

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

ILE-DE-FRANCE
PARIS
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)

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

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

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

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of intellectual disability and/or epilepsy (Panel)
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)

Nordrhein-Westfalen
DORTMUND
Diagnosis of autism spectrum disorders (NGS screening panel, 57 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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)

Murcia
EL PALMAR
Diagnosis of Smith-Magenis syndrome
Centro de Bioquímica y Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: MLPA based techniques, Array based techniques, FISH

ILE-DE-FRANCE
PARIS
Diagnosis of intellectual disability (Whole exome)
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Whole Exome Sequencing (WES)

HAINAUT
GOSSELIES
Diagnosis of autism and autism spectrum disorders (gene panel)
Institut de Pathologie et de Génétique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

GRAND-EST
STRASBOURG
Diagnosis of rare oral diseases (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

BRETAGNE
BREST
Diagnosis of intellectual disability (Clinical exome)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

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

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

TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of intellectual disability and autism [panel of genes]
MAGI'S LAB srl
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

HAUTS-DE-FRANCE
AMIENS
Diagnosis of intellectual disability (Panel)
CHU Amiens-Picardie - Site Sud
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Rheinland-Pfalz
MAINZ
Diagnosis of Smith-Magenis syndrome
Zweigpraxis des MVZ der Universitätsmedizin Mainz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: FISH

Vestlandet
BERGEN
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

Greater London
LONDON
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

Wiltshire
SALISBURY
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

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

Terre-Neuve-et-Labrador
ST. JOHN'S
Molecular Cytogenetic Diagnosis of 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

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

Ontario
HAMILTON
Molecular Cytogenetic Diagnosis of 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

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

Ontario
TORONTO
Molecular Cytogenetic Diagnosis of 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

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

Ontario
OTTAWA
Molecular Cytogenetic Diagnosis of 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

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

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

Ontario
TORONTO
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

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

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

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

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

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

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

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

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

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

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

LOMBARDIA
MONZA
Molecular cytogenetics diagnosis of Smith-Magenis syndrome
ASST Monza - Ospedale San Gerardo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

LOMBARDIA
CREMONA
Diagnosis of Smith-Magenis syndrome
ASST Cremona
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH, Karyotyping

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

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

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

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

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

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

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

LAZIO
ROMA
Molecular cytogenetics diagnosis of Smith-Magenis syndrome
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

VENETO
VICENZA
Molecular diagnosis of Smith-Magenis syndrome
Azienda ULSS8 "Berica"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

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

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

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

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

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

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

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

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

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

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

PAYS DE LA LOIRE
NANTES
Array-CGH analyses of microdeletions and microduplications
CHU de Nantes - Institut de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

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

TURKEY
ANKARA
Molecular cytogenetic diagnosis of Smith-Magenis syndrome (by FISH)
Intergen Genetic and Rare Diseases
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH

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

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

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

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

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

Comunidad Valenciana
PATERNA
Diagnosis of Smith-Magenis syndrome (RAI1 gene)
IMEGEN - Delegación Valencia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing, MLPA based techniques

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

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

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

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

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

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

Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of Smith-Magenis syndrome
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques, FISH

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

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

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

Sjælland
GLOSTRUP
Molecular cytogenetic diagnosis of submicroscopic chromosome aberrations (FISH)
Kennedy Center
Purpose(s)
: Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Cytogenetics
Technique(s)
: FISH

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

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

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

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

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

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

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

OUTRE-MER
SAINT-DENIS
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

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

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

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

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

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

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

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)

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)

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

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

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

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)

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

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

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)

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)

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)

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)

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)

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)

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

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)

Baleares
PALMA DE MALLORCA
Diagnosis of Smith-Magenis syndrome
Hospital Universitario Son Espases
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: MLPA based techniques

HAUTS-DE-FRANCE
AMIENS
Diagnosis of intellectual disability (Clinical exome)
CHU Amiens-Picardie - Site Sud
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

BOURGOGNE-FRANCHE-COMTE
DIJON
Diagnosis of developmental abnormalities and intellectual disability - Neurodegenerative and sensory diseases(Whole exome)
CHU de Dijon - Plateau technique de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

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

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

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

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

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

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

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

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

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

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

Galicia
A CORUÑA
Diagnosis of Smith-Magenis syndrome
Hospital Universitario da Coruña
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques, FISH

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Alberta
CALGARY