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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Search for uniparental disomy (microsatellite analyses)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of Prader-Willi syndrome (region 15q11.2)
CHU de Rouen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

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

Accreditation
Diagnosis of uniparental disomy of chromosomes 7, 14 and 15 (SNRPN and MEG3 genes)
CHU de Saint-Etienne - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
Search for maternal uniparental disomy of chromosome 7 and 11 (Silver-Russell syndrome) (D7S2201, D7S1824, D7S505, D7S513, D7S1870, D7S640, D7S820, D7S636, D7S1818, D11S1301, D11S1318, D11S1338, D11S4046, and TH01)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of uniparental disomy of chromosomes 6, 7, 11, 14, 15, 16 and 20
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques, Microsatellite analysis

GERMANY

Nordrhein-Westfalen
ESSEN

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene: MS-MLPA, microsatellites)
Universitätsklinikum Essen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of uniparental disomy (6, 7, 11, 13, 14, 15, 16, 18, 21; others on request)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

ILE-DE-FRANCE
LE CHESNAY

Accreditation
Diagnosis of uniparental disomy of chromosomes 7, 14 and 15 (SNRPN and UBE3A genes)
CH de Versailles - Hôpital André Mignot
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

BRETAGNE
RENNES

Accreditation
Search for uniparental disomy of chromosome 14 (MEG3 gene)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Accreditation
Diagnosis of Prader-Willi syndrome (FISH, Caryotype, MS-MLPA: 15q11q13 region BP1 to BP3, microsatellites)
CHU de Limoges - Hôpital de la mère et de l'enfant
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques, FISH, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
PARIS

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

FINLAND

Finland
OULU

Accreditation
Molecular diagnosis of uniparental disomy of chromosomes 7, 14, 16 and 20
Oulu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Search for uniparental disomy
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of uniparental disomy of chromosomes 2, 5-9, 11, 13-16, 18 and 22
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Silver-Russell syndrome (UPD 7, UPD 14, UPD11 methylation sensitive MPLA and microsatellite analysis)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Silver-Russell syndrome (11p15 methylation analysis ICRI, MSMLPA analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Transient Neonatal Diabetes Mellitus - TNDM (Chromosome 6 microsatellite analysis for UPD, 6q24 methylation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

GERMANY

Niedersachsen
HANNOVER

Accreditation
Diagnosis of uniparental disomy (UPD 7, 14 and 15)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of Prader-Willi syndrome (PWCR region)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Methylation analysis
Technique(s) : PCR based techniques, MLPA based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of uniparental disomy (7, 11, 14, 15, X, Y) by microsatellite analysis
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of uniparental disomy of chromosomes 2, 4, 6, 7, 11, 13, 14, 15 and 16
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular diagnosis of uniparental disomy (chromosome 7, 14, 15)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of uniparental disomy of chromosome 14
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of Uniparental Disomy (any chromosome)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of Uniparental Disomy
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Prader-Willi Syndrome (SNRPN gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, Microsatellite analysis

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Silver-Russell Syndrome (H19 methylation and UPD7)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Uniparental Disomy
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Diagnosis of uniparental disomy of chromosome 16
Institut für Klinische Genetik Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Diagnosis of Silver-Russell dwarfism (mUPD7)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Methylation analysis
Technique(s) : PCR based techniques, MLPA based techniques

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Diagnosis of uniparental disomy of chromosomes 7, 14 , 15 and X
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Prader-Willi syndrome (SNRPN gene)
Centre de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation
Diagnosis of Silver-Russell syndrome (mUPD7)
MVZ Dr. Stein + Kollegen Mönchengladbach
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation
Diagnosis of uniparental disomy of chromosome 14
MVZ Dr. Stein + Kollegen Mönchengladbach
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of uniparental disomy of chromosomes 6, 7, 11, 14, 15
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques, MLPA based techniques

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of Silver Russel syndrome (mUPD7; H19, IGF2 genes: methylation status)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, FISH

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular diagnosis of Uniparental Disomy (UPD7, UPD14, UPD15 and UPD16)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Uniparental Disomy
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Silver Russel syndrome (mUPD7 and methylation status 11p15.5)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Diagnosis of uniparental disomy of chromosome 14 (14q32.2 and GTL2 gene: methylation status)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Diagnosis of uniparental disomy (6, 7, 14, 15) by microsatellite analysis
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of uniparental disomy of chromosomes 2, 7, 11, 14, 15, 16
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Array based techniques

GERMANY

Hessen
FRANKFURT AM MAIN

Accreditation
Diagnosis of uniparental disomy of chromosomes
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

UNITED KINGDOM

Cambridgeshire
ST NEOTS

Accreditation
Molecular diagnosis of Silver-Russell syndrome (H19 gene: Targetted mutation analysis by MSMLPA; UPD7 gene: Gene tracking)
The Aplastic Anaemia Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of uniparental disomy (UDP14 gene)
Cliniques Universitaires UCL Saint-Luc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis pangenomic of constitutional anomalies by molecular cytogenetic (FISH) and CGHarrays
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH

FRANCE

CENTRE-VAL DE LOIRE
TOURS

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

GERMANY

Nordrhein-Westfalen
ESSEN

Accreditation
Diagnosis of Silver Russel syndrome (IGF2, H19, PEG1 genes: MS-MLPA, MS-PCR)
Universitätsklinikum Essen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

BRETAGNE
BREST

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of Prader-Willi and Angelman syndromes (methylation defects at SNRPN locus and UBE3A gene mutations)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques, Microsatellite analysis

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Diagnosis of uniparental disomies (chromosomes 7, 14, 15, 16, 22)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Asturias
OVIEDO

Accreditation
Diagnosis of Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Hospital Universitario Central de Asturias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Uniparental Disomy of chromosome 14 (microsatellite analysis, 14q32 methylation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

NETHERLANDS

Gelderland
NIJMEGEN

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

NETHERLANDS

Gelderland
NIJMEGEN

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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Prader-Willi syndrome (by methylation and copy number MLPA and UPD analysis)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Silver-Russell syndrome (by H19 methylation MLPA and Copy Number Analysis and UPD 7 STR analysis)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Silver-Russell Syndrome (UPD7 and methylation analysis (PCR based techniques))
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Uniparental Disomy of Chromosome 16 (UPD16 Microsatellite Analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Nordrhein-Westfalen
ESSEN

Accreditation
Diagnosis of UPD14, imprinting defects and deletions in 14q32 (MEG3 by MS-MLPA,microsatellite analysis)
Universitätsklinikum Essen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

CANADA

Manitoba
WINNIPEG

Accreditation
Molecular Diagnosis of Prader-Willi syndrome (MLPA)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CANADA

Ontario
OTTAWA

Accreditation
Molecular Diagnosis of Prader Willi Syndrome (MS-MLPA)
Children's Hospital of Eastern Ontario
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of uniparental disomy of chromosome 14 (MLPA, methylation analysis)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Prader Willi Syndrome (MS-MLPA)
North York General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of UPD 14 (microsatellite analysis)
North York General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of UPD 15 (microsatellite analysis)
North York General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Nordrhein-Westfalen
AACHEN

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

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Diagnosis of Silver-Russell syndrome (H19 and KCNQ1OT1 genes: methylation status/MLPA)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Diagnosis of uniparental disomy of chromosome 14 (MLPA, methylation analysis)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Schleswig-Holstein
KIEL

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Silver-Russell syndrome (CDKN1C, H19 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Prader-Willi syndrome (NDN, SNRPN genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Murcia
EL PALMAR

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

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Diagnosis of Prader Willi syndrome (SNRPN gene)
GHU Paris-Sud - Hôpital Antoine Béclère
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

BRETAGNE
BREST

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

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Diagnosis of Prader Willi and Angelman syndromes (MAGEL2 and UBE3A genes)
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

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

SPAIN

Madrid
MAJADAHONDA

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

FRANCE

ILE-DE-FRANCE
PARIS

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

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Silver-Russell syndrome (CDKN1C, H19, IGF2 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Array based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Temple syndrome (DLK1, MEG3, RTL1 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of Prader-Willi syndrome (FISH, Caryotype, MS-MLPA: region 15q11q13 from BP1 to BP3, microsatellite markers)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

UNITED KINGDOM

Greater London
HARROW

Accreditation
Diagnosis of Russell-Silver syndrome (UPD7 studies, STR markers)
North West London Hospitals NHS - Northwick Park & St Marks Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

UNITED KINGDOM

Greater London
HARROW

Accreditation
Diagnosis of Uniparental Disomy (UPD14 studies, STR markers)
North West London Hospitals NHS - Northwick Park & St Marks Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Silver-Russell syndrome (MS-MLPA of H19, UPD7 analysis by linked markers)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular diagnosis of uniparental disomy
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of maternal uniparental disomy of chromosome 16 (analysis by linked markers)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of uniparental disomy
Azienda Ospedaliera San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SPAIN

Cataluña
SABADELL

Diagnosis of Prader-Willi syndrome (SNRPN, SNORD116@ genes)
Corporación Sanitaria Parc Taulí
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques, FISH, Microsatellite analysis

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Bayern
ERLANGEN

Diagnosis of uniparental disomy of chromosomes 7, 14 and 16
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

SPAIN

Aragón
ZARAGOZA

Search for uniparental disomy
Centro de Análisis Genéticos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

VENETO
SARMEOLA DI RUBANO

Molecular diagnosis of Uniparental disomy
Laboratorio Analisi CITOTEST
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of uniparental disomy
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of uniparental disomy (7, 14, 15 chr.)
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

ITALY

LOMBARDIA
CUSANO MILANINO

Molecular diagnosis of Silver-Russell dwarfism (H19, UPD7 genes)
Istituto Auxologico Italiano
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques

FRANCE

NORMANDIE
CAEN

Diagnosis of uniparental disomy of chromosomes 7, 14 and 15 by studying microsatellites (study of Copy Number Variation)
CHU de Caen - Hôpital Clémenceau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy (2, 6, 14, 15, 16 and 20 chromosome)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of Prader-Willi syndrome (SNRPN gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of uniparental disomy
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SPAIN

Cataluña
BARCELONA

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

GREECE

ATTIKI
MAROUSI

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

ITALY

LAZIO
ROMA

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

ITALY

LIGURIA
GENOVA

Molecular diagnosis of uniparental disomy (chromosomes 6, 14, 15)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LOMBARDIA
LEGNANO

Molecular diagnosis of uniparental disomy
Azienda Ospedaliera- Ospedale Civile di Legnano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

PIEMONTE
TORINO

Molecular diagnosis of uniparental disomy (chromosomes 7, 11, 14, 15 and 16)
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Nordrhein-Westfalen
MÜNSTER

Diagnosis of uniparental disomy (all chromosomes)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

GRAND-EST
STRASBOURG

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

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of Silver-Russell syndrome (11p15 deletion, duplication and methylation defects detected by MLPA; uniparental disomy of chromosome 7)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of chromosomes 7, 14, 15 and 16 uniparental disomies
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

DENMARK

Sjælland
GLOSTRUP

Molecular diagnosis of Silver-Russell syndrome (methylation and UPD analyses)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

ITALY

PIEMONTE
TORINO

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

POLAND

Warszawa
WARSAW

Molecular diagnosis of Silver-Russell and Beckwith-Wiedemann syndrome (MS-MLPA: imprinting defects at 11p15; maternal UPD7)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

ITALY

LOMBARDIA
BUSTO ARSIZIO

Molecular diagnosis of uniparental disomy
Toma Advanced Biomedical Assays S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Bayern
ERLANGEN

Diagnosis of Silver Russel syndrome (mUPD7 and methylation status 11p15.5)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

SPAIN

Madrid
MADRID

Diagnosis of Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, Array based techniques

SPAIN

Madrid
MADRID

Diagnosis of Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, Array based techniques

ITALY

LAZIO
ROMA

Antenatal molecular diagnosis of chromosome 6, 7, 14, 15 uniparental disomy
ASLRM1 - Centro per la tutela della Salute della Donna e del Bambino
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy (7, 14, 21 chromosomes)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

SPAIN

Cataluña
BARCELONA

Diagnosis of chromosomal anomalies
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

DENMARK

Sjælland
GLOSTRUP

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

DENMARK

Sjælland
GLOSTRUP

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

SPAIN

Madrid
MADRID

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

SPAIN

Cataluña
BARCELONA

Diagnosis of Silver-Russell syndrome
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

PORTUGAL

CENTRO
OEIRAS

Molecular genetic diagnosis of Beckwith-Wiedmann and Silver-Russel syndromes: deletion/duplication analysis by MLPA, MS-MLPA and prenatal testing)
Laboratório de Análises Clínicas Dr. Joaquim Chaves
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

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

CANADA

Alberta
CALGARY

Molecular Diagnosis of Russel Silver Syndrome (UPD7 and H19 MLPA)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Prader-Willi Syndrome (D-PCR of SNRPN)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Russell-Silver Syndrome (UPD 7)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Maternal/Paternal UPD 14
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

CANADA

Alberta
CALGARY

Molecular Diagnosis of Paternal/Maternal UPD 14
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

SPAIN

Cataluña
BARCELONA

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

ITALY

VENETO
LIMENA

Molecular diagnosis of uniparental disomies (chromosomal STR markers)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

POLAND

Gdansk
GDANSK

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

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy (chromosome 2, 7, 11, 14, 15, 16)
Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of Silver-Russell syndrome (H19 and IGF2 genes, UPD7)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

SPAIN

Cataluña
GIRONA

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

FRANCE

OCCITANIE
MONTPELLIER

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

FRANCE

OCCITANIE
MONTPELLIER

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

ITALY

CALABRIA
REGGIO CALABRIA

Molecular diagnosis of uniparental disomy
Azienda Ospedaliera BMM
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

PUGLIA
CARBONARA DI BARI

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

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomiy (11, 14, 15 chromosomes)
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

ITALY

LAZIO
ROMA

Molecular diagnosis of uniparental disomy
Centro Medico Artemisia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

GERMANY

Bayern
BAD STEBEN

Diagnosis of uniparental disomy (all chromosomes)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Bayern
BAD STEBEN

Diagnosis of Silver-Russell syndrome (mUPD7)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

SLOVENIA

SLOVENIA
MARIBOR

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

ITALY

LAZIO
ROMA

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

ITALY

EMILIA ROMAGNA
REGGIO EMILIA

Molecular diagnosis of uniparental disomy (chromosomes 7, 11, 14, 15)
IRCCS Arcispedale Santa Maria Nuova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of uniparental disomy
Karolinska Universitetsjukhuset - Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SLOVENIA

SLOVENIA
POSTOJNA

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

ISRAEL

ISRAEL
HAIFA

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

ISRAEL

ISRAEL
JERUSALEM

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

ISRAEL

ISRAEL
BEER YAAKOV

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

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Silver-Russell syndrome (microsatellite analysis)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of uniparental disomy of chromosome 14 (microsatellite analysis)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SERBIA

Serbia
BELGRADE

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

CANADA

Québec
QUÉBEC

Search of uniparental disomies by molecular analysis
CHUQ - Hôpital Saint-Francois d'Assise
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

POLAND

Lodz
LODZ

Molecular diagnosis of Prader-Willi Syndrome (methylation 15q11-q13)
Centralny Szpital Kliniczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Silver-Russell syndrome
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Prader-Willi syndrome (MAGEL2 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of Prader-Willisyndrome (SNRPN gene)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Temple syndrome (DLK1, MEG3, RTL1 genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of uniparental disomy of chromosome 14 (MEG3 gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Silver-Russell syndrome (H19, IGF2 genes; uniparental disomy of chromosome 7)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques