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FRANCE

GRAND-EST
STRASBOURG

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Angelman syndrome (15q11 region, UBE3A gene)
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, Microsatellite analysis

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
Diagnosis of Angelman syndrome (MS-MLPA; UBE3A and SNRPN genes)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Molecular diagnosis of Angelman syndrome (15q11 region, UBE3A gene)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A 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

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
CHRU de Lille - Hôpital Jeanne de Flandre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

FRANCE

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

Accreditation
Molecular cytogenetics and molecular diagnosis of Angelman syndrome by methylation studies of 15q11-q13 region by M-PCR (UBE3A gene)
CHU de Saint-Etienne - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

FRANCE

GRAND-EST
REIMS

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene ; methylation study of SNRPN locus by PCR)
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Nordrhein-Westfalen
ESSEN

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A 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, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, FISH, Karyotyping

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Prader-Willi syndrome (UBE3A gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Thüringen
JENA

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Uniparental disomy study, Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, FISH, Microsatellite analysis

GERMANY

Thüringen
JENA

Accreditation
Molecular and molecular cytogenetic diagnosis of Prader-Willi syndrome
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : MLPA based techniques, FISH

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A and SNRPN genes)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques, FISH

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
LE CHESNAY

Accreditation
Molecular 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

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, FISH

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Accreditation
Molecular and cytogenetic diagnosis of Angelman 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 chromosome alterations large in size
Technique(s) : MLPA based techniques, Array based techniques, FISH, Karyotyping, Microsatellite analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Angelman syndrome (SNRPN, UBE3A genes)
Medizinisch Genetisches Zentrum München
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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular and molecular cytogenetics diagnosis of Angelman syndrome (karyotyping; FISH; methylation sensitive MLPA; microarray; entire coding region UBE3A gene/ MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, FISH, Karyotyping

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of Prader-Willi syndrome
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques, Array based techniques

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
Center for Medical Genetics Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular Diagnosis of Angelman syndrome (UBE3A gene)
CHU de LIEGE - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular Diagnosis of Angelman syndrome (UBE3A gene)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular and/or cytogenetic diagnosis of Angelman syndrome (15q11-q13 by methylation sensitive PCR, FISH analysis, UBE3A analysis)
St Mary's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques, FISH

UNITED KINGDOM

Lanarkshire
GLASGOW

Accreditation
Molecular diagnosis of Angelman syndrome (by methylation specific PCR, diagnosis by using markers outside the AS region and sequencing of UBE3A)
Queen Elizabeth University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : PCR based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (SNRPN and UBE3A genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques, FISH

GERMANY

Hessen
BAD NAUHEIM

Accreditation
Molecular diagnosis of Angelman syndrome (methylation status / complete sequencing of the UB3A gene)
Zweigniederlassung der SYNLAB MVZ Kassel GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, BS-Pyrosequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A and SNRPN genes: sequencing/MLPA/methylation status)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular diagnosis of Angelman syndrome by methyl-sensitive MLPA and by UBE3A gene mutations
CHU Paris - Hôpital Robert Debré
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
Medizinische Versorgungszentrum Dr.Stein + Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, FISH

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of Angelman syndrome (methylation UBE3A gene)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Angelman Syndrome (UBE3A gene and SNRPN methylation analysis (PCR based techniques))
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Angelman Syndrome (UBE3A gene and SNRPN methylation)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene: sequencing/MLPA, methylation status/MLPA of region15q11.2-q13)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular diagnosis of Angelman Syndrome (Methylation analysis, UPD15 and UBE3A gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Angelman Syndrome (15q11-q13 and UBE3A gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene: sequencing / MLPA)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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
SCHLIEREN

Accreditation
Molecular diagnosis of epileptic encephalopathy (entire coding region SCN1A gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Coffin-Lowry syndrome (entire coding region RPS6KA3 gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Cohen syndrome (entire coding region VPS13B gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Kleefstra syndrome (entire coding region EHMT1 gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Mowat-Wilson syndrome (entire coding region ZEB2 gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Pitt-Hopkins syndrome and Pitt-Hopkins like syndrome (TCF4, CNTNAP2,NRXN1 genes entire coding region / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Rett syndrome and atypical Rett syndrome (entire coding region CDKL5, FOXG1, MECP2 and MEF2C genes / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Prader-Willi syndrome (methylation-MLPA, UBE3A gene: sequencing)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Prader-Willi syndrome/Angelman syndrome (methylation status)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A and SNRPN genes)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Diagnostic of Angelman and Prader-Willi syndromes (UBE3A and SNRPN genes)
Eurofins Biomnis
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of Rett syndrome and related diseases (NGS screening panel: 21 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Epileptic Encephalopathy (gene panel; EPI02v17.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
Synlab Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular and molecular cytogenetics diagnosis of Rubinstein-Taybi syndrome (FISH ; entire coding region CREBBP and EP300 genes / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques, FISH

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene: sequencing, MLPA)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of epilepsy (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

GRAND-EST
STRASBOURG

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

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of ataxia, spastic paraplegia and related neurodegenerative diseases (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of epileptic encephalopathy (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Angelman syndrome (SNRPN, UBE3A genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
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

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of intellectual disabilities (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Epilepsy (gene panel; EPI00v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Epileptic Syndrome with Intellectual Disability (gene panel; EPI09v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Epilepsy (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

CENTRE-VAL DE LOIRE
TOURS

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of epilepsy (NGS screening panel, 444 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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
Molecular 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

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of autism spectrum disorders (28 genes panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of epilepsies (NGS screening panel: 217 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

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

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Bayern
BAD STEBEN

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Angelman syndrome (MS-MLPA of region 15q11-13 and UBE3A mutation screening by sequencing)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Uniparental disomy study
Technique(s) : MLPA based techniques

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular and molecular cytogenetic diagnosis of Angelman syndrome (methylation-specific PCR and sequencing of the UBE3A gene; FISH analysis)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis
Technique(s) : PCR based techniques, FISH

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Angelman syndrome (UBE3A gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Epilepsy - Comprehensive NGS Panel (69 genes)
London Health Sciences Centre
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)

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Syndromic Epilepsy in Infancy NGS Panel (22 genes)
London Health Sciences Centre
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)

FRANCE

NOUVELLE AQUITAINE
POITIERS

Molecular diagnosis of Prader-Willi and Angelman syndromes (MLPA: 15q11q13 region, methylation analysis of SNRPN and UBE3A genes)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

TOSCANA
PISA

Diagnosis of Prader-Willi/Angelman syndrome (UBE3A gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, FISH

ITALY

LOMBARDIA
CUSANO MILANINO

Molecular diagnosis of Prader-Willi/Angelman syndrome (SNRPN, UBE3A 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

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of Prader-Willi/Angelman syndrome (SNRPN and UBE3A genes)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Array based techniques

SPAIN

Cataluña
SABADELL

Diagnosis of Angelman syndrome (UBE3A gene)
Corporación Sanitaria Parc Taulí
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques, Array based techniques, FISH, Microsatellite analysis

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
STUTTGART

Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques, Microsatellite analysis

SPAIN

Aragón
ZARAGOZA

Diagnosis of Angelman syndrome (UBE3A gene)
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques, FISH

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Angelman syndrome (UBE3A gene: Analysis of the entire coding region and deletion/duplication analysis)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis

ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of Angelman syndrome (UBE3A gene)
B.I.R.D. Foundation
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques, Microsatellite analysis

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Microsatellite analysis

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of Angelman syndrome (UBE3A gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular and molecular cytogenetic diagnosis of Angelman syndrome (UBE3A, SNRPN genes: sequencing, methylation analysis, MLPA)
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Molecular cytogenetic diagnosis of Prader-Willi syndrome/Angelman syndrome (UBE3A gene)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Sanger sequencing, MLPA based techniques, FISH

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of Angelman syndrome (UBE3A gene / MLPA))
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

POLAND

Warszawa
WARSAW

Molecular diagnostics of Angelman syndrome (deletion, paternal disomy, imprinting defects at 15q11-13)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

POLAND

Warszawa
WARSAW

Molecular diagnosis of Angelman syndrome (UBE3A gene: mutations in exons 7 to 16 ; methylation test and search for deletion in 15q11-q13)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Angelman syndrome (UBE3A gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Angelman syndrome (UBE3A gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Saarland
HOMBURG

Molecular diagnosis of Angelman syndrome (UBE3A gene / methylation status SNRPN gene)
Biomedizinisches Zentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

POLAND

Warszawa
WARSAW

Molecular diagnosis of Angelman syndrome (methylation test and search for deletion in 15q11-q13, UBE3A gene: mutations in exons 7 to 16 ; )
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

PORTUGAL

CENTRO
OEIRAS

Prenatal and postnatal molecular cytogenetic and genetic diagnosis of Angelman syndrome (UBE3A gene, 15q11.2-q13 locus: MLPA, FISH and DNA methylation analysis)
Laboratório de Análises Clínicas Dr. Joaquim Chaves
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques, FISH

SPAIN

La Rioja
LOGROÑO

Diagnosis of Angelman syndrome (UBE3A gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

ITALY

LAZIO
ROMA

Molecular diagnosis of Prader-Willi/Angelman syndrome (MS-MLPA-microduplications/microdeletions and methylation at 15q11/uniparental disomy of Chr15)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
ELCHE

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Berlin
BERLIN

Molecular diagnosis of Prader-Willi syndrome/Angelman syndrome (methylation status)
Praxis für medizinische Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of rare epilepsy (gene panel)
Bioarray
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), MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of epilepsy (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
Technique(s) : NGS sequencing (except WES)

FRANCE

NOUVELLE AQUITAINE
POITIERS

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

SPAIN

Madrid
MADRID

Diagnosis of epilepsy (panel)
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Madrid
MADRID

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

ITALY

VENETO
PADOVA

Molecular diagnosis of rare epilepsy [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

ITALY

LOMBARDIA
PAVIA

Diagnosis of Rett and atypical Rett syndromes [panel of genes]
Microgenomics S.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Angelman syndrome (ATP10A, OCA2, SNRPN, UBE3A genes)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

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

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

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

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

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

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of Prader-Willi/Angelman syndrome
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, FISH

ITALY

VENETO
PADOVA

Diagnosis of Rett syndrome and atypical Rett syndrome [panel of genes]
Azienda Ospedaliera di Padova
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), PCR based techniques

NORWAY

Østlandet
OSLO

Molecular diagnosis of Angelman syndrome (UBE3A gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Diagnosis of Prader-Willi/Angelman syndrome (UB3A gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : PCR based techniques, Microsatellite analysis

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular cytogenetic diagnosis of Angelman syndrome (UBE3A gene) by FISH analysis
Karolinska Universitetsjukhuset - Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

CZECH REPUBLIC

Olomouc
OLOMOUC

Molecular diagnosis of Angelman syndrome (UBE3A gene)
University hospital Olomouc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Angelman syndrome (UBE3A gene / MLPA of 15q11-q13 region by STRs)
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
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of Angelman syndrome (SNRPN gene: MS-MLPA, MS-PCR/RFLP, allele specific REAL Time PCR, STR analysis of deletions ; UBE3A gene: sequencing)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

SPAIN

Madrid
TRES CANTOS

Molecular diagnosis of Angelman syndrome (15q11 region, MS-MLPA and sequencing for UBE3A gene)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : MLPA based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of Angelman syndrome (SNRPN, UBE3A genes)
Hospital San Pedro
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), MLPA based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of other disorders associated with epilepsy (panel)
Hospital San Pedro
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)