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FRANCE

MIDI-PYRENEES
TOULOUSE

Accreditation
Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

RHONE-ALPES
LYON

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

ITALY

TOSCANA
FIRENZE

Accreditation
Postnatal molecular cytogenetics diagnosis of Miller-Dieker syndrome (determined by FISH)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques, FISH

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (PAFAH1B1 gene)
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Thüringen
JENA

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of Miller-Dieker syndrome (MLPA)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technical procedure(s) : MLPA based techniques, Array based techniques, FISH

GERMANY

Niedersachsen
HANNOVER

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

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis (MLPA) of Miller - Dieker syndrome (LIS1gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technical procedure(s) : MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular and molecular cytogenetics diagnosis of Miller-Dieker syndrome (lissencephaly type 1): 17p13 deletion (FISH; MLPA; microarray; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, FISH

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

FINLAND

Finland
OULU

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

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (microdeletion 17p13.3)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

BELGIUM

VLAAMS BRABANT
LEUVEN

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

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular cytogenetic diagnosis (FISH) of Miller-Dieker syndrome (del 17p)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (microdeletion 17p13.3)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Heinrich-Heine-Universität Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Lissencephaly (LIS1 and TUBA1A genes: Molecular diagnosis through sequencing and dosage analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

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

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular cytogenetic diagnosis of Lissencephaly type 1 (Miller-Dieker syndrome, by conventional karyotype and FISH analysis)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technical procedure(s) : FISH, Karyotyping

BELGIUM

HAINAUT
GOSSELIES

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

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Lissencephaly (PAFAH1B1, RELN and TUBA1A gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
BARCELONA

Accreditation
Molecular Diagnosis of Lissencephaly tipe 1, due to LIS 1 anomalies. PAFAH1B1 / LIS1 gene
Laboratorio de Análisis Dr. Echevarne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Rheinland-Pfalz
MAINZ

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

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of lissencephaly syndrome type 1 (PAFAH1B1 gene)
Institut für Klinische Genetik Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Schleswig-Holstein
LÜBECK

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

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular cytogenetic diagnosis of Lissencephaly type 1 (Miller-Dieker 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
Technical procedure(s) : FISH, Karyotyping

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of lissencephaly type 1 (DCX, PAFAH1B1 genes: sequencing, NGS panel neuronal migration disorders, MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of lissencephaly (ARX, DCX, PAFAH1B1, TUBA1A genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of lissencephaly type 1 (DCX and LIS1 genes)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

IRELAND

County Dublin
DUBLIN

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker 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
Technical procedure(s) : FISH, Karyotyping

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
Technical procedure(s) : MLPA based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (by FISH analysis)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FINLAND

Finland
HELSINKI

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH at 17p13.3 locus)
Yhtyneet Medix Laboratoriot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FINLAND

Finland
TAMPERE

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

GERMANY

Hamburg
HAMBURG

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

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
Technical procedure(s) : Array based techniques, FISH

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH analysis)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

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

GERMANY

Bayern
WÜRZBURG

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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of lissencephaly type 1 (DCX, PAFAH1B1 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH analysis at locus 17p13.3)
Southmead Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

UNITED KINGDOM

Norfolk
NORWICH

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH analysis at locus 17p13.3)
Norfolk and Norwich University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Miller-Dieker syndrome
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : MLPA based techniques

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Molecular cytogenetic diagnosis (FISH) of Miller-Dieker syndrome (LIS1 gene)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of lissencephaly syndrome type 1 (PAFAH1B1 gene: sequencing, MLPA)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of lissencephaly (ARX, DCX, PAFAH1B1 genes: sequencing, MLPA)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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
Technical procedure(s) : Array based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular and cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technical procedure(s) : FISH, Karyotyping

UNITED KINGDOM

Greater London
LONDON

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

GERMANY

Nordrhein-Westfalen
BOCHUM

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

GERMANY

Schleswig-Holstein
KIEL

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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of lissencephaly type 1 (DCX, PAFAH1B1 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

OOST-VLAANDEREN
GENT

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Cytogenetic diagnosis of Miller-Dieker syndrome (FISH of LIS1 gene)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

BELGIUM

LIEGE
LIEGE

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of Miller-Dieker syndrome (MLPA of region 17p13.3)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

CANADA

Ontario
MISSISSAUGA

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of lissencephaly (DCX, PAFAH1B1, TUBA1A genes: sequencing, MLPA)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

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

GERMANY

Schleswig-Holstein
KIEL

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of lissencephaly (ARX, DCX, PAFAH1B1, RELN, TUBA1A, YWHAE, NDE1 genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

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

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
Technical procedure(s) : NGS sequencing (except WES)

CANADA

Ontario
TORONTO

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

CANADA

Ontario
TORONTO

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

CANADA

Ontario
MISSISSAUGA

Accreditation
Molecular Cytogenetic Diagnosis of Miller-Dieker Syndrome
Trillium Health Partners- Credit Valley Site
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

SPAIN

Murcia
EL PALMAR

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

GERMANY

Bayern
BAD STEBEN

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular Cytogenetic diagnosis of Miller-Dieker syndrome (by FISH at 17p13.3)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

CZECH REPUBLIC

South Moravia
BRNO

Accreditation
Diagnosis by FISH of Miller-Dieker syndrome
Cytogenetic laboratory Brno,s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

SWEDEN

Skane
LUND

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH at the LIS1 locus)
Skånes Universitetssjukhus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH analysis)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FRANCE

ILE-DE-FRANCE
CLAMART

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

SWEDEN

Landstinget i Östergötland
LINKÖPING

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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH analysis)
St George's University of London
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Miller-Dieker syndrome (by MLPA, 7 probes in the 17p13.3 Miller-Dieker-ASPA region)
The Doctors Laboratory Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

CANADA

Québec
MONT-ROYAL, MONTRÉAL

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

CANADA

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

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

CANADA

Ontario
HAMILTON

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

CANADA

Ontario
TORONTO

Accreditation
Molecular Cytogenetic Diagnosis of Miller-Dieker Syndrome (LIS1 FISH)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

CANADA

Ontario
TORONTO

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

CANADA

Ontario
OTTAWA

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

CANADA

Ontario
OTTAWA

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

FRANCE

RHONE-ALPES
BRON

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

RHONE-ALPES
SAINT-PRIEST-EN-JAREZ

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Saint-Etienne - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

BOURGOGNE
DIJON

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Dijon - Plateau technique de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

FRANCE

LORRAINE
VANDOEUVRE-LÈS-NANCY

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Nancy - Hôpital de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

PAYS DE LA LOIRE
NANTES

Prenatal and postnatal molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

ILE-DE-FRANCE
LE CHESNAY

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CH de Versailles - Hôpital André Mignot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

ILE-DE-FRANCE
PARIS

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU Paris Centre - Maternité Port Royal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

POITOU-CHARENTES
POITIERS

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

PAYS DE LA LOIRE
ANGERS

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

CHAMPAGNE-ARDENNE
REIMS

Molecular cytogenetics of Miller-Dieker syndrome
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technical procedure(s) : FISH

FRANCE

ILE-DE-FRANCE
PARIS

Preimplantation and postnatal cytogenetic diagnosis of Miller-Dieker syndrome (FISH analysis of LIS1 gene)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FRANCE

BASSE-NORMANDIE
CAEN

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Caen - Hôpital Clémenceau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technical procedure(s) : FISH

FRANCE

AQUITAINE
BORDEAUX

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHRU de Lille - Hôpital Jeanne de Flandre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

FRANCHE-COMTE
BESANÇON

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHRU de Besançon - Hôpital Saint-Jacques
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LIGURIA
GENOVA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

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

ITALY

LOMBARDIA
MONZA

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

ITALY

TOSCANA
PISA

Postnatal molecular cytogenetics diagnosis of Miller-Dieker syndrome
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

ITALY

LOMBARDIA
CREMONA

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

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of lissencephaly syndrome type 1
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

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

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome (LIS1 gene)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

FRIULI VENEZIA GIULIA
PORDENONE

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Azienda Ospedaliera Santa Maria degli Angeli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Nordrhein-Westfalen
BONN

Molecular cytogenetic diagnosis of Miller-Dieker syndrome (microdeletion 17p13.3)
Universitätsklinikum Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

ITALY

LOMBARDIA
MILANO

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

GERMANY

Baden-Württemberg
FREIBURG

Molecular diagnosis of lissencephaly type 1 (DCX, PAFAH1B1 genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Aragón
ZARAGOZA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Centro de Análisis Genéticos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of Miller-Dieker syndrome (microsatellite analysis)
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
SARMEOLA DI RUBANO

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

ITALY

LOMBARDIA
VARESE

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

ITALY

LOMBARDIA
BERGAMO

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Ospedali Riuniti di Bergamo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
PAVIA

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

FRANCE

LANGUEDOC-ROUSSILLON
NÎMES

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Nîmes - Hôpital Caremeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

VENETO
BASSANO DEL GRAPPA

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

ITALY

EMILIA ROMAGNA
PIEVESESTINA DI CESENA

Cytogenetic diagnosis of Miller-Dieker syndrome
AUSL Cesena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technical procedure(s) : Karyotyping

SPAIN

Andalucía
SEVILLA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome (detecting the deletion of the 15q24 region)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

LIMOUSIN
LIMOGES

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

AUSTRIA

OBERÖSTERREICH
LINZ

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Kepler Universitätsklinikum - Med Campus IV.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

PORTUGAL

NORTE
PORTO

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

PORTUGAL

SUL
LISBOA

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

ITALY

PIEMONTE
TORINO

Cytogenetics molecular diagnosis of Miller-Dieker syndrome with FISH
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

ITALY

LOMBARDIA
SAN FERMO DELLA BATTAGLIA

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
ASST Lariana - Ospedale S.Anna di Como
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques, FISH

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

ILE-DE-FRANCE
PARIS

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Institut für Humangenetik der Martin-Luther-Universität Halle Wittenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

ITALY

TOSCANA
PISA

Postnatal molecular diagnosis of lissencephaly (LIS1, DCX genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Baden-Württemberg
STUTTGART

Molecular and molecular cytogenetic diagnosis of Miller-Dieker syndrome
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technical procedure(s) : Sanger sequencing, MLPA based techniques, FISH

SPAIN

Aragón
ZARAGOZA

Diagnosis of Miller-Dieker syndrome (HIC1, PAFAH1B1 genes)
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
Technical procedure(s) : MLPA based techniques, FISH

SPAIN

Cataluña
BARCELONA

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

FRANCE

ILE-DE-FRANCE
LE BLANC MESNIL

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Laboratoire d'analyses médicales Clément
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
BUSTO ARSIZIO

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

GREECE

ATTIKI
MAROUSI

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

GERMANY

Hessen
GIEßEN

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Institut für Humangenetik des UKGM am Standort Gießen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

NORWAY

Vestlandet
BERGEN

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Haukeland University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

TURKEY

TURKEY
ISTANBUL

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Acibadem healthcare group
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

TOSCANA
FIRENZE

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

PROVENCE-ALPES-COTE D'AZUR
TOULON

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHI Toulon La Seyne-sur-Mer - Hôpital Sainte Musse
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular genetic diagnosis of cryptic rearrangements by array-CGH
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Cytogenetic diagnosis of Lissencephaly type 1 (Miller-Dieker syndrome, by conventional karyotype and FISH analysis)
Cambridge University Hospitals NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technical procedure(s) : FISH, Karyotyping

ITALY

VENETO
VICENZA

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
ULSS 6 "Vicenza"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

BRETAGNE
RENNES

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

FRANCE

ALSACE
STRASBOURG

Preimplantation molecular cytogenetic diagnosis of Robertsonian and reciprocal translocations, other chromosomal anomalies and X-linked diseases
Hôpitaux Universitaires de Strasbourg - HUS
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size

FRANCE

RHONE-ALPES
BRON

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

FRANCE

AUVERGNE
CLERMONT-FERRAND

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

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of Miller-Dieker syndrome (17p13.3 microdeletion detected by MLPA)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Tayside
DUNDEE

Cytogenetic diagnosis of Miller-Dieker syndrome (by FISH analysis)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

UNITED KINGDOM

Greater London
LONDON

Cytogenetic diagnosis of Miller-Dieker syndrome (by FISH at 17p13.3)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

DENMARK

Sjælland
GLOSTRUP

Molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH analysis)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

ITALY

PIEMONTE
TORINO

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

FRANCE

LANGUEDOC-ROUSSILLON
NÎMES

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

GERMANY

Hamburg
HAMBURG

Molecular and molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH/ MLPA)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

GERMANY

Bayern
NÜRNBERG

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of Miller Dieker syndrome. PAFAH1B1 gene.
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

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

PORTUGAL

NORTE
PORTO

Molecular cytogenetic diagnosis of Miller-Dieker syndrome by FISH analysis
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

ITALY

MARCHE
ANCONA

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

FRANCE

HAUTE-NORMANDIE
EVREUX

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

FRANCE

RHONE-ALPES
VALENCE

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

FRANCE

PAYS DE LA LOIRE
LE MANS

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

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

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

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

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

FRANCE

PAYS DE LA LOIRE
NANTES

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

FRANCE

CENTRE
TOURS

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

FRANCE

RHONE-ALPES
GRENOBLE

Molecular cytogenetic 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
Technical procedure(s) : FISH

FRANCE

BRETAGNE
BREST

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

FRANCE

BRETAGNE
BREST

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

FRANCE

ILE-DE-FRANCE
POISSY

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

UNITED KINGDOM

Lothian
EDINBURGH

Cytogenetic diagnosis of Miller-Dieker syndrome (FISH analysis)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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
Technical procedure(s) : FISH

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of lissencephaly (PAFAH1B1, TUBA1A genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

POLAND

Warszawa
WARSZAWA

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

GERMANY

Baden-Württemberg
FREIBURG

Molecular cytogenetic diagnosis of Miller-Dieker syndrome (LIS1 gene)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

Madrid
MADRID

Diagnosis of lissencephaly
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
Technical procedure(s) : MLPA based techniques, Array based techniques

SPAIN

Madrid
MADRID

Diagnosis of Miller-Dieker syndrome
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
Technical procedure(s) : MLPA based techniques, Array based techniques

SPAIN

País Vasco
DERIO

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

SPAIN

País Vasco
DERIO

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

GREECE

ATTIKI
ATHENS

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

GERMANY

Sachsen
DRESDEN

Molecular 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
Technical procedure(s) : MLPA based techniques

ITALY

FRIULI VENEZIA GIULIA
UDINE

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Miller-Dieker syndrome (PAFAH1B1 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

CENTRO
COIMBRA

Molecular cytogenetic diagnosis of Miller-Dieker syndrome by FISH
Faculdade de Medicina da Universidade de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

PORTUGAL

CENTRO
COIMBRA

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

PORTUGAL

CENTRO
COIMBRA

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

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of lissencephaly (DCX, PAFAH1B1, TUBA1A genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, Array based techniques

SPAIN

Baleares
PALMA DE MALLORCA

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

SPAIN

Cataluña
BARCELONA

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

SPAIN

Madrid
MADRID

Molecular and molecular cytogenetics diagnosis of Miller-Dieker syndrome: diagnostic and prenatal testing (locus 17p13.1 / FISH, MLPA)
Hospital Clínico San Carlos
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technical procedure(s) : MLPA based techniques, FISH

SPAIN

Madrid
MADRID

Molecular diagnosis of lissencephaly: diagnostic and prenatal testing (PAFAH1B1 gene)
Hospital Clínico San Carlos
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular Diagnosis of Lissencephaly due to LIS1 mutation (PAFAH1B1 gene)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular cytogenetics diagnosis of Miller-Dieker syndrome: diagnostic and prenatal testing (FISH 17p13.3)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FRANCE

CHAMPAGNE-ARDENNE
REIMS

Molecular diagnosis of Miller-Dieker syndrome (PAFAH1B1 gene)
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Berlin
BERLIN

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

GERMANY

Nordrhein-Westfalen
BONN

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

GERMANY

Nordrhein-Westfalen
BONN

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of lissencephaly (LIS1, DCX, ARX, RELN, and TUBA1A genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Lissencephaly (PAFAH1B1, RELN, TUBA1A, YWHAE, and ARX genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

LORRAINE
METZ

Cytogenetic diagnosis of Miller Dieker syndrome
CHR de Metz-Thionville
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

Castilla - León
SALAMANCA

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

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular and molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH, array-CGH)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques, FISH

SPAIN

País Vasco
SAN SEBASTIÁN

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

SPAIN

País Vasco
SAN SEBASTIÁN

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

DENMARK

Sjælland
GLOSTRUP

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

DENMARK

Sjælland
GLOSTRUP

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

DENMARK

Sjælland
GLOSTRUP

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

SPAIN

Madrid
MADRID

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

FRANCE

ALSACE
STRASBOURG

Cytogenetic diagnosis of Miller-Dieker syndrome (FISH)
CHU de Strasbourg - Hôpital de Hautepierre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FRANCE

ALSACE
STRASBOURG

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

SPAIN

Comunidad Valenciana
PATERNA

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

SPAIN

Cataluña
BARCELONA

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

PORTUGAL

CENTRO
OEIRAS

Prenatal and postnatal molecular genetic and cytogenetics diagnosis of Miller-Dieker 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
Technical procedure(s) : MLPA based techniques, FISH

SPAIN

País Vasco
BILBAO

Molecular cytogenetics diagnosis of Miller-Dieker syndrome (FISH)
Genetic Diagnóstico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

BASSE-NORMANDIE
CAEN

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

SPAIN

Comunidad Valenciana
ALICANTE

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

ITALY

SICILIA
AVOLA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of partial deletion of chromosome 17 (RAI1 e HNF1B genes)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

OUTRE-MER
SAINT-DENIS

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

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Lissencephaly type 1 (PAFAH1B1 gene: deletions/duplications analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

SPAIN

Cataluña
SABADELL

Molecular and molecular cytogenetics diagnosis of Miller-Dieker syndrome (PAFAH1B1 gene / arrayCGH, MLPA, FISH)
Corporación Sanitaria Parc Taulí
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques, Array based techniques, FISH

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

CANADA

Alberta
CALGARY

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

CANADA

Alberta
CALGARY

Molecular Cytogenetic Diagnosis of Miller-Dieker Syndrome (mFISH LIS1 probe analysis)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

SPAIN

Cataluña
BARCELONA

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

ITALY

EMILIA ROMAGNA
MODENA

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

ITALY

VENETO
LIMENA

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

POLAND

Wroclaw
WROCLAW

Molecular cytogenetic diagnosis of Miller-Dieker syndrome (FISH)
Przychodnia Fundacji Uniwersytetu Medycznego we Wroclawiu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

POLAND

Gdansk
GDANSK

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

FRANCE

AQUITAINE
BORDEAUX

Diagnosis of periventricular nodular heterotopia (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ALSACE
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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ALSACE
STRASBOURG

Diagnosis of cerebral malformations (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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

RHONE-ALPES
BRON

Diagnosis of intellectual disability (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

POITOU-CHARENTES
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
Technical procedure(s) : NGS sequencing (except WES)

HUNGARY

Észak-Magyarország
DEBRECEN

Molecular diagnosis of lissencephaly type 1 (LIS1, DCX and TUBA1A genes)
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

HUNGARY

Észak-Magyarország
DEBRECEN

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

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of lissencephaly (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

BRETAGNE
RENNES

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

ILE-DE-FRANCE
BONDY

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

FRANCE

RHONE-ALPES
CHAMBERY

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Hotel-Dieu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

CENTRE
ORLEANS

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
CHR d'Orléans - Hôpital de la Source
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

MIDI-PYRENEES
TOULOUSE

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Clinique St Jean Languedoc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

ILE-DE-FRANCE
BONDY

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

ITALY

EMILIA ROMAGNA
BOLOGNA

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

ITALY

EMILIA ROMAGNA
RAVENNA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Ospedale Santa Maria delle Croci
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

CAMPANIA
NAPOLI

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

ITALY

SARDEGNA
SASSARI

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

ITALY

LAZIO
ROMA

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

ITALY

VENETO
VERONA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome (LIS1 gene)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

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

SPAIN

Madrid
MÓSTOLES

Diagnosis of Miller-Dieker syndrome
Hospital Universitario de Móstoles
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

ITALY

LOMBARDIA
BRESCIA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
Università degli Studi di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

EMILIA ROMAGNA
FERRARA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

Canarias
SANTA CRUZ DE TENERIFE

Diagnosis of Miller-Dieker syndrome (17p13.1)
Hospital Universitario de Canarias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

ITALY

PUGLIA
CARBONARA DI BARI

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

ITALY

SICILIA
TROINA

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

PORTUGAL

NORTE
VILA REAL

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

GERMANY

Bayern
REGENSBURG

Molecular diagnosis of lissencephaly type 1 (DCX, PAFAH1B1 genes)
Klinik und Poliklinik für Neurologie der Universität Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

EMILIA ROMAGNA
IMOLA

Molecular cytogenetics diagnosis of Miller-Dieker syndrome
AUSL di Imola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

FRANCE

PICARDIE
AMIENS

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

PUGLIA
LECCE

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

SWITZERLAND

Suisse Alémanique
BASEL

Molecular cytogenetics diagnosis (FISH) of Miller - Dieker syndrome (lissencephaly type 1): 17p13 del (LIS1 gene)
University Children's Hospital - UKBB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

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

ITALY

LOMBARDIA
BOSISIO PARINI

Molecular diagnosis of Miller-Dieker syndrome
IRCCS "E. Medea"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

FRIULI VENEZIA GIULIA
UDINE

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

ITALY

EMILIA ROMAGNA
REGGIO EMILIA

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

SPAIN

Madrid
MADRID

Molecular Cytogenetic Diagnosis of Miller-Dieker Syndrome
Centro de Investigación sobre Anomalías Congénitas
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular cytogenetic diagnosis of Miller-Dieker syndrome (microdeletion 17p13.3)
Praxis Dr. med. Ulrike Beudt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

SLOVENIA

SLOVENIA
MARIBOR

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

ITALY

VENETO
PADOVA

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

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

GERMANY

Bayern
MÜNCHEN

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Institut für Humangenetik der LMU-München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

SLOVENIA

SLOVENIA
LJUBLJANA

Cytogenetic diagnosis of Miller-Dieker syndrome (by FISH analysis)
University Medical Center Ljubljana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

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
Technical procedure(s) : MLPA based techniques, FISH

SLOVENIA

SLOVENIA
POSTOJNA

Diagnosis of chromosome aneuploidy
Zavod za prenatalno in posnatalno diagnostiko
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technical procedure(s) : Karyotyping

GERMANY

Rheinland-Pfalz
KAISERSLAUTERN

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
Med-Biolog-Labor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

ISRAEL

ISRAEL
JERUSALEM

Cytogenetic diagnosis of Miller-Dieker syndrome (FISH analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

ISRAEL

ISRAEL
HAIFA

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

ISRAEL

ISRAEL
JERUSALEM

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

ISRAEL

ISRAEL
BEER YAAKOV

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

SERBIA

Serbia
BELGRADE

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

GREECE

ATTIKI
ATHENS

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

POLAND

Warszawa
WARSAW

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

GREECE

ATTIKI
ATHENS

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

SPAIN

Galicia
VIGO

Molecular cytogenetics diagnosis of Miller-Dieker syndrome by FISH (LIS1) analysis at 17p13-3
Hospital Álvaro Cunqueiro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FRANCE

ILE-DE-FRANCE
NEUILLY-SUR-SEINE

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

ITALY

CAMPANIA
NAPOLI

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

FRANCE

BRETAGNE
RENNES

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

GREECE

ATTIKI
ATHENS

Molecular cytogenetic diagnosis of Miller-Dieker syndrome (by FISH)
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

ROMANIA

BUCURESTI
BUCURESTI

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

FRANCE

HAUTE-NORMANDIE
LE HAVRE

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

FRANCE

HAUTE-NORMANDIE
LE HAVRE

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of Miller-Dieker syndrome (entire coding sequence of PAFAH1B1 gene / deletions-duplications by MLPA analysis)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

ITALY

UMBRIA
PERUGIA

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

POLAND

Warszawa
WARSAW

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

POLAND

Warszawa
WARSAW

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

ITALY

SICILIA
TROINA

Molecular cytogenetic diagnosis of Miller-Dieker syndrome
IRCCS OASI Maria Santissima
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

POLAND

Lodz
LODZ

Molecular cytogenetic diagnosis of Miller-Dieker syndrome by FISH
Centralny Szpital Kliniczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

FRANCE

PAYS DE LA LOIRE
NANTES

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

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

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of intellectual disability (Panel)
CHRU 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
Technical procedure(s) : NGS sequencing (except WES)