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FRANCE

MIDI-PYRENEES
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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(s) : FISH

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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Whole Exome Sequencing (WES)

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular cytogenetic diagnosis of subtelomeric cryptic rearrangements
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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
Technical procedure(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
Technical procedure(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
Technical procedure(s) : FISH

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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(s) : Array based techniques

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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of X-linked mental retardation 94 (GRIA3 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of X-linked mental retardation 30 (PAK3 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of X-linked mental retardation 96 (SYP gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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

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
Technical procedure(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
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

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

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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

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
Technical procedure(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
Technical procedure(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
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of intellectual deficits linked to an ARX gene mutation (ARX gene)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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
Technical procedure(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
Technical procedure(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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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

AQUITAINE
BORDEAUX

Molecular cytogenetics search for cryptic subtelomeric anomalies
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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
Technical procedure(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

ITALY

EMILIA ROMAGNA
FERRARA

Molecular diagnosis of subtelomeric criptic deletions
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

LIMOUSIN
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
Technical procedure(s) : MLPA 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
Technical procedure(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
Technical procedure(s) : Array based techniques, Karyotyping

FRANCE

AQUITAINE
BORDEAUX

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
Technical procedure(s) : Sanger sequencing

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
Technical procedure(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

RHONE-ALPES
SAINT-PRIEST-EN-JAREZ

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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

FRANCE

RHONE-ALPES
SAINT-PRIEST-EN-JAREZ

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
Technical procedure(s) : Sanger sequencing

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
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE CHESNAY

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
Technical procedure(s) : Sanger sequencing

FRANCE

CENTRE
TOURS

Molecular diagnosis of X-linked nonsyndromic intellectual deficit (MED12, UPF3B, MECP2, GDI1, PAK3, IL1RAPL1, DLG3 genes; linkage analysis)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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: mutation analysis and sequencing)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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

FRANCE

CENTRE
TOURS

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
Technical procedure(s) : Sanger sequencing

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

FRANCE

AQUITAINE
BORDEAUX

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

FRANCE

ALSACE
STRASBOURG

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

FRANCE

ALSACE
STRASBOURG

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

FRANCE

ALSACE
STRASBOURG

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

FRANCE

RHONE-ALPES
BRON

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

FRANCE

RHONE-ALPES
BRON

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

FRANCE

HAUTE-NORMANDIE
ROUEN

Diagnosis of intellectual disability (Panel)
Faculté de médecine et de pharmacie de Rouen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Diagnosis of muscular dysrophy and myopathy (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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

POITOU-CHARENTES
POITIERS

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

FRANCE

RHONE-ALPES
CHAMBERY

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

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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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
Technical procedure(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

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Biochemical diagnosis of X-linked nonsyndromic intellectual deficit
Hospital Universitari Sant Joan de Déu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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
Technical procedure(s) : FISH

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of X-linked nonsyndromic intellectual deficit (entire coding sequence of ARX, MECP2 and RPS6KA3 genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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
Technical procedure(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
Technical procedure(s) : MLPA based techniques

FRANCE

NORD-PAS-DE-CALAIS
LILLE

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