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FRANCE

OCCITANIE
TOULOUSE

Accreditation
Molecular cytogenetics search for cryptic subtelomeric and intercalated anomalies
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
CUSANO MILANINO

Accreditation
Molecular cytogeentics diagnosis of subtelomeric criptic anomalies
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases
Institut für Humangenetik der Universität Göttingen
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 MECP2 gene-associated diseases (Sequencing/MLPA)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of ARX gene-associated diseases (West syndrome, PROUD syndrome, XLAG, MRXARX, PRTS)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LAZIO
ROMA

Accreditation
Molecular cytogenetics diagnosis of subtelomeric cryptic anomalies
Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of ARX gene-associated diseases
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques, Whole Exome Sequencing (WES)

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular cytogenetic search for cryptic subtelomeric anomalies
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Molecular diagnosis of intellectual deficits linked to an ARX gene mutation
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Search of genomic DNA duplications and/or deletions by array-CGH
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular cytogenetics (FISH) search for cryptic subtelomeric anomalies
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular cytogenetic search for cryptic subtelomeric anomalies (Array-CGH)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular cytogenetics search (telomeric FISH) for cryptic subtelomeric anomalies
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Search of cryptic duplications and/or deletions by array-CGH
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular and molecular cytogenetic search for cryptic subtelomeric anomalies (subtelomer screening)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular cytogenetics search for cryptic subtelomeric anomalies (FISH; MLPA; array-CGH)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Array based techniques, FISH

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Molecular cytogenetic search for cryptic subtelomeric anomalies (subtelomer screening)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases
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), Sanger sequencing, MLPA based techniques, Whole Exome Sequencing (WES)

GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Molecular analysis in case of unexplained mental retardation (subtelomer microdeletions)
Institut für Humangenetik der Universität Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular cytogenetic search for cryptic subtelomeric anomalies
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis (MLPA) of subtelomeric microdelections (1p36, 4pter, 15q24, 22q11, 11p13)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular cytogenetic search for cryptic subtelomeric anomalies (subtelomer screening)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

FRANCE

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

Accreditation
Search for ARX gene mutation in case of nonspecific mental retardation
CHU de Saint-Etienne - Hôpital Nord
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

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

Accreditation
Search for ACSL4 gene mutation in case of nonspecific mental retardation
CHU de Saint-Etienne - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases
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

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of X-linked nonspecific mental retardation : linkage analysis
Medizinisch Genetisches Zentrum München
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

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular analysis in case of unexplained mental retardation (subtelomer microdeletions/duplications)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases
Paxis und Labor Dr. med Karl Mehnert
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 analysis in case of unexplained mental retardation (subtelomerscreening by MLPA)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SWITZERLAND

Suisse Alémanique
NIEDERWANGEN

Accreditation
Search of cryptic duplications and/or deletions by array-CGH
Laboratoire MCL
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

FRANCE

ILE-DE-FRANCE
LE CHESNAY

Accreditation
Molecular diagnosis of mental retardation due to MECP2 mutations
CH de Versailles - Hôpital André Mignot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular analysis in case of unexplained mental retardation (subtelomerscreening by MLPA)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of ARX gene-associated diseases (West syndrome, PROUD syndrome, XLAG, MRXARX, PRTS)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular diagnosis of ARX gene-associated diseases (West syndrome, PROUD syndrome, XLAG, MRXARX, PRTS)
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

Hamburg
HAMBURG

Accreditation
Molecular cytogenetic search for cryptic subtelomeric anomalies
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases (sequencing / MLPA)
Universitätsmedizin Mainz
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

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases (sequencing / MLPA)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of X-linked mental retardation 72 (RAB39B gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Asturias
OVIEDO

Accreditation
Diagnosis of rare non-syndromic intellectual disability
Hospital Universitario Central de Asturias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of ARX-gene related disorders (ARX gene by MLPA and seq)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of ARX gene-associated diseases (sequencing / MLPA)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of ARX gene-associated diseases
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of X-linked Intellectual Deficit due to X-chromosome Inactivation (RFLP and methylation analysis of x-chromosome)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of X-linked Intellectual Disability type 9, 21 and 46 (FTSJ1, IL1RAPL1 and ARHGEF6 gene)
Radboudumc - Radboud universitair medisch centrum
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) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of ARX gene-associated diseases
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular diagnosis of ARX gene-associated diseases
amedes genetics im MVZ wagnerstibbe
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

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of X-linked mental retardation 97 (ZNF711 gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of syndromic X-linked mental retardation 14 (UPF3B gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation
Molecular diagnosis of intellectual deficiency related to PTCHD1 gene
CHRU de Tours - Hôpital Bretonneau
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 MECP2 gene-associated diseases (sequencing / MLPA)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of ARX gene-associated diseases (sequencing / MLPA)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of ARX gene-associated diseases (sequencing / MLPA)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of ARX gene-associated diseases
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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of X-linked mental retardation 21 (IL1RAPL1 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : 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

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of parkinsonian disorder (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

GRAND-EST
STRASBOURG

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

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of intellectual disability (Panel)
Faculté de médecine et de pharmacie de Rouen
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 corpus callosum agenesis or dysgenesis syndrome (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of MECP2 gene-associated diseases
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of X-linked non-syndromic intellectual disability (ACSL4, ARHGEF6, ARX, BRWD3, DMD, FTSJ1, GDI1, IL1RAPL1, IQSEC2, MECP2, MED12, PAK3, RAB39B, RPS6KA3, SYP, TSPAN7, UPF3B, ZNF81)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

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

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

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation
Diagnosis of X-linked non-syndromic intellectual disability (GDI1, IL1RAPL1, PAK3, PTCHD1 genes)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of neurogenetic and neuromuscular diseases (NGS panel - 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
LILLE

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

FRANCE

PAYS DE LA LOIRE
SAINT-HERBLAIN

Accreditation
Molecular cytogenetics search for cryptic subtelomeric and intercalated anomalies
CYTOGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Molecular cytogenetics search for cryptic subtelomeric anomalies
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

AUVERGNE-RHONE-ALPES
CHAMBERY

Molecular cytogenetics search for cryptic subtelomeric anomalies
Hotel-Dieu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Molecular cytogenetics search for cryptic subtelomeric anomalies
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of unexplained mental retardation
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
MONZA

Molecular cytogenetics diagnosis of unexplained mental retardation
Azienda Ospedaliera San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LIGURIA
GENOVA

Molecular cytogenetics diagnosis of subtelomeric criptic anomalies
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

FRIULI VENEZIA GIULIA
PORDENONE

Molecular cytogenetics diagnosis of subtelomeric cryptic anomalies
Azienda Ospedaliera Santa Maria degli Angeli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
MILANO

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

ITALY

TOSCANA
SIENA

Molecular diagnosis of X-linked unexplained mental retardation
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
VARESE

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

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of unexplained mental retardation
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Molecular and cytogenetic diagnosis for cryptic subtelomeric anomalies (FISH, MLPA; subtelomeric regions, 16p11 region, SHANK3, 15q11q13 region)
CHU de Limoges - Hôpital de la mère et de l'enfant
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques, FISH

PORTUGAL

NORTE
PORTO

Molecular cytogenetics search for cryptic subtelomeric and intercalated anomalies
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

PIEMONTE
TORINO

Cytogenetics molecular diagnosis of subtelomeric criptic anomalies with FISH
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ITALY

LOMBARDIA
SAN FERMO DELLA BATTAGLIA

Molecular cytogenetic diagnosis of subtelomeric cryptic rearrangements
ASST Lariana - Ospedale S.Anna di Como
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, Karyotyping

GERMANY

Niedersachsen
OSNABRÜCK

Molecular analysis in case of unexplained mental retardation (subtelomerscreening by MLPA)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

LOMBARDIA
BUSTO ARSIZIO

Molecular and molecular cytogenetic diagnosis of unexplained mental retardation
Toma Advanced Biomedical Assays S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of X-linked mental retardation due to mutations in MECP2 gene
BURC Genetics Diagnostic Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

PROVENCE-ALPES-COTE D'AZUR
TOULON

Molecular cytogenetics search for cryptic subtelomeric anomalies
CHI Toulon La Seyne-sur-Mer - Hôpital Sainte Musse
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

TOSCANA
FIRENZE

Molecular and molecular cytogenetic diagnosis of unexplained mental retardation
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

ITALY

LIGURIA
GENOVA

Molecular cytogenetic diagnosis of cryptic subtelomeric anomalies
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Molecular analysis in case of unexplained mental retardation (subtelomer microdeletions/duplications)
Institut für Humangenetik der Martin-Luther-Universität Halle Wittenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of X-linked mental retardation 14 (UPF3B gene)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of ARX gene-associated diseases (West syndrome, PROUD syndrome, XLAG, MRXARX, PRTS)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

DENMARK

Sjælland
GLOSTRUP

Prenatal and postnatal molecular diagnosis of ARX-related disorders (mutation screening, carrier analysis)
Kennedy Center
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

GERMANY

Hamburg
HAMBURG

Molecular diagnosis of MECP2 gene-associated diseases (sequencing / MLPA)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Molecular cytogenetic search for cryptic subtelomeric anomalies (subtelomer FISH)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Bayern
NÜRNBERG

Molecular cytogenetic search for cryptic subtelomeric anomalies (subtelomer FISH)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

ITALY

VENETO
COSTOZZA DI LONGARE

Molecular diagnosis of rare intellectual deficit associated to ARX (ARX gene)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Poznan
POZNAN

Molecular diagnosis of ARX-related mental retardation (ARX gene: dup24 mutation)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Molecular diagnosis of nonspecific X-linked intellectual deficit (MECP2, ARX genes)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of X-linked nonsyndromic intellectual deficit (ARX gene): analysis of the entire coding region and deletion/duplication analysis
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of X-linked nonsyndromic intellectual deficit (entire coding sequence of MECP2 gene)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of X-linked intellectual deficit (ARX gene)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of X-linked intellectual deficit (deletion/ duplication analysis of the X-linked MR genes P106 MRX MLPA)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of mental retardation with epilepsy (ARX, CDKL5 and MECP2 genes: sequencing, MLPA)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Sachsen
DRESDEN

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

SPAIN

Baleares
PALMA DE MALLORCA

Molecular diagnosis of X-linked nonsyndromic intellectual deficit (ARX, RPS6KA3, IL1RAPL1, TSPAN7, ACSL4, PAK3, AGTR2, ARHGEF6, GDI1 genes)
Hospital Universitario Son Espases
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Baleares
PALMA DE MALLORCA

Molecular diagnosis of X-linked intellectual deficit (RPS6KA3, ARX, IL1RAPL1, TSPAN7, PQBP1, HUWE1, OPHN1, ACSL4, PAK3, DCX, AGTR2, ARHGEF6, FMR1, AFF2, SLC6A8 and GDI1 genes by MLPA (kit P106))
Hospital Universitario Son Espases
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of X-linked intellectual deficit syndromes (MLPA kit P106B1)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of X-linked nonsyndromic intellectual deficit (ARX gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of ARX gene-associated diseases
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of X-linked non-syndromic intellectual deficit (MECP2, UPF3B genes: entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

PORTUGAL

NORTE
PORTO

Molecular diagnosis of X-linked non-syndromic intellectual deficit (IL1RAPL1 gene: sequencing of targeted mutation and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

SICILIA
AVOLA

Molecular cytogenetic diagnosis of mental retardation, unexplained
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

SICILIA
AVOLA

Molecular cytogenetics diagnosis of unexplained mental retardation
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of MECP2 gene-associated diseases
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, 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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of X-linked non-syndromic intellectual disability (ARX gene)
Bioarray
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

Diagnosis of intellectual disability (Panel)
CHU Paris Centre - Hôpital 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

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of peroxisomal diseases (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

ILE-DE-FRANCE
PARIS

Diagnosis of glycosylation disorders (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
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

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

BRETAGNE
BREST

Diagnosis of intellectual disability (Panel)
CHRU de Brest - Hôpital Morvan
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)

ITALY

ABRUZZO
CHIETI

Molecular cytogenetics diagnosis of mental retardation unexplained
Policlinico Universitario di Chieti
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

TRENTINO ALTO ADIGE
BOLZANO

Molecular cytogenetics diagnosis of cryptic telomeric deletions
Azienda Sanitaria dell'Alto Adige - Ospedale di Bolzano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular cytogenetics diagnosis of cryptic subtelomeric anomalies
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

CALABRIA
CATANZARO

Molecular cytogenetic diagnosis of unexplained mental retardation
Azienda Ospedaliera Pugliese Ciaccio
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
BRESCIA

Molecular cytogenetics diagnosis of cryptic subtelomeric deletions
Università degli Studi di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

SICILIA
TROINA

Cytogenetics molecular diagnosis of unexplained mental retardation
IRCCS OASI Maria Santissima
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

ABRUZZO
L'AQUILA

Molecular cytogenetic diagnosis of cryptic rearrangements
Università degli Studi dell'Aquila - Coppito
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

SICILIA
PALERMO

Cytogenetics diagnosis of unexplained mental retardation
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

GERMANY

Bayern
REGENSBURG

Molecular diagnosis of ARX gene-associated diseases (West syndrome, PROUD syndrome, XLAG, MRXARX, PRTS)
Klinik und Poliklinik für Neurologie der Universität Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

EMILIA ROMAGNA
IMOLA

Molecular cytogenetics diagnosis of unexplained mental retardation
AUSL di Imola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

ITALY

CAMPANIA
AVELLINO

Molecular diagnosis of unexplained mental retardation
Azienda Ospedaliera San Giuseppe Moscati
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
LECCE

Molecular cytogenetic diagnosis of unexplained mental retardation
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SWITZERLAND

Suisse Alémanique
BASEL

Molecular Cytogenetics Search (telomeric FISH) for cryptic subtelomeric anomalies
University Children's Hospital - UKBB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SWITZERLAND

Suisse Alémanique
BASEL

Search of genomic DNA duplications and/or deletions by microarray
University Children's Hospital - UKBB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular cytogenetic diagnosis of mental retardation, unexplained
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LOMBARDIA
BOSISIO PARINI

Molecular diagnosis of cryptic subtelomeric anomalies
IRCCS "E. Medea"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

FRIULI VENEZIA GIULIA
UDINE

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

ITALY

EMILIA ROMAGNA
REGGIO EMILIA

Molecular diagnosis of unexplained mental retardation
IRCCS Arcispedale Santa Maria Nuova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular cytogenetic search for cryptic subtelomeric anomalies (subtelomer FISH)
Praxis Dr. med. Ulrike Beudt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

ITALY

TOSCANA
FIRENZE

Postnatal molecular diagnosis of X-linked non-syndromic intellectual disability (sequence analysis of the entire coding region and MLPA of ARX gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : MLPA based techniques

ITALY

VENETO
PADOVA

Molecular cytogenetic diagnosis of unexplained mental retardation
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

CALABRIA
REGGIO CALABRIA

Molecular diagnosis of subtelomeric anomalies
Azienda Ospedaliera BMM
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular diagnosis of nonspecific X-linked mental retardation (ARX gene)
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of X linked mental retardation (screening of duplications/deletions by MLPA)
Praxis Dr. med. Ulrike Beudt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SWEDEN

Stockholms läns landsting
STOCKHOLM

Search for X-Chromosome inactivation studies
Karolinska University Hospital - Clinical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Rheinland-Pfalz
KAISERSLAUTERN

Molecular cytogenetic search for cryptic subtelomeric anomalies
Med-Biolog-Labor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of X-linked non syndromic mental retardation and West syndrome (whole sequence of ARX gene)
Istanbul Universitesi, Tip Fakültesi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

LEBANON

Beyrouth
BEIRUT

Molecular diagnosis of non syndromic mental retardation (search for subtelomeric rearrangements by MLPA)
Université Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

DENMARK

Fyn
ODENSE

Molecular diagnosis of ARX-related diseases (gene sequencing)
Amplexa Genetics A/S
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ROMANIA

BUCURESTI
BUCURESTI

Molecular cytogenetic diagnosis of non syndromic intellectual deficit by FISH
INCDVB Institutul Victor Babes
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of X-linked intellectual disabilities (OPHN1, ARX, ATP6AP2, MECP2, RPS6KA3 genes)
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
Technique(s) : Sanger sequencing

POLAND

Warszawa
WARSAW

Molecular diagnosis of X-linked intellectual deficit syndromes (MLPA kit P106)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of X-linked intellectual deficit (RPS6KA3, ARX, IL1RAPL1, TSPAN7, PQBP1, HUWE1, OPHN1, ACSL4, PAK3, DCX, AGTR2, ARHGEF6, FMR1, AFF2, SLC6A8 and GDI1 genes by MLPA (kit P106))
Children's University Hospital Zagreb
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques