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167 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular cytogenetics search for cryptic subtelomeric and intercalated anomalies
    • CHU de Toulouse - Hôpital Purpan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • 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
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BOCHUM
    • 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
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • 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
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Accreditation
    • Molecular cytogenetics diagnosis of subtelomeric cryptic anomalies
    • Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Accreditation
    • Molecular diagnosis of ARX gene-associated diseases
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • 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
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • 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
    • More information
    • 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
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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
    • More information
    • 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
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • 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
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • 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
    • More information
    • 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
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • 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
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BOCHUM
    • 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
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular cytogenetic diagnosis of subtelomeric cryptic rearrangements
    • AZM - Academisch Ziekenhuis Maastricht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • 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
    • More information
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • 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
    • More information
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • 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
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • 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
    • More information
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • 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
    • More information
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • 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
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • 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
    • More information
    • 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
    • More information
    • GERMANY
    • Bayern
    • NEU-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
    • More information
    • GERMANY
    • Baden-Württemberg
    • ULM
    • 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
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • NIEDERWANGEN
    • 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
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • MAINZ
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • 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
    • More information
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • 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
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • 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
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • MAINZ
    • 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
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • 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
    • More information
    • 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
    • More information
    • 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
    • More information
    • 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
    • More information
    • 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
    • More information
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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
    • More information
    • BELGIUM
    • HAINAUT
    • GOSSELIES
    • 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
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • 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
    • More information
    • 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
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • 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
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • 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
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • 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
    • More information
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • 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
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN
    • 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
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • 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
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of syndromes with corpus callosum agenesis/dysgenesis (NGS panel: AKT3, ANOS1, ARX, B3GALTL, DISC1, DYNC1H1, EOMES, FOXG1, GCSH, GLDC, GPSM2, HCCS, KIF5C, KIF7, L1CAM, LRP2, MED12, MID1, NDE1, NFIA, OFD1, PAX6, PDHB, PTCH1, RAB3GAP1, RAB3GAP2, RBM10, SLC12A6, SPG11, SPOCK1, TUBA1A UPF3B, VAX1, ZEB2)
    • Pränatalmedizin München
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • 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
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • 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
    • More information
    • GERMANY
    • Bayern
    • MARTINSRIED
    • 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
    • More information
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Diagnosis of intellectual disability (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)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • 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)
    • More information
    • 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)
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Accreditation
    • Molecular cytogenetics search for cryptic subtelomeric and intercalated anomalies
    • CYTOGEN
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • FRANCE
    • PAYS DE LA LOIRE
    • SAINT-HERBLAIN
    • Molecular cytogenetics search for cryptic subtelomeric anomalies
    • CHU de Marseille - Hôpital de la Timone
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Molecular cytogenetics search for cryptic subtelomeric anomalies
    • CHU de Bordeaux-GH Pellegrin
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Molecular cytogenetics diagnosis of unexplained mental retardation
    • Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular cytogenetics diagnosis of subtelomeric criptic anomalies
    • Ospedali Galliera
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular cytogeentics diagnosis of subtelomeric criptic anomalies
    • Istituto Auxologico Italiano
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LOMBARDIA
    • CUSANO MILANINO
    • Molecular cytogenetics diagnosis of subtelomeric cryptic anomalies
    • Azienda Ospedaliera Santa Maria degli Angeli
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • PORDENONE
    • 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
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • 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
    • More information
    • ITALY
    • TOSCANA
    • SIENA
    • 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
    • More information
    • ITALY
    • LOMBARDIA
    • VARESE
    • Molecular cytogenetic diagnosis of unexplained mental retardation
    • Istituto CSS-Mendel
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of subtelomeric criptic deletions
    • A.O.U. di Ferrara - Polo Chimico-Bio-Medico
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • FERRARA
    • 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
    • More information
    • FRANCE
    • LIMOUSIN
    • LIMOGES
    • Molecular cytogenetics search for cryptic subtelomeric and intercalated anomalies
    • CGMJM - Centro de Genética Médica Jacinto Magalhães
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Cytogenetics molecular diagnosis of subtelomeric criptic anomalies with FISH
    • Azienda Ospedaliero-Universitaria San Giovanni Battista di Torino
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Technical procedure(s) : FISH
    • More information
    • ITALY
    • PIEMONTE
    • TORINO
    • 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
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • 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
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • 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
    • More information
    • ITALY
    • LOMBARDIA
    • BUSTO ARSIZIO
    • 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
    • More information
    • 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
    • More information
    • FRANCE
    • RHONE-ALPES
    • SAINT-PRIEST-EN-JAREZ
    • Molecular cytogenetics search for cryptic subtelomeric anomalies
    • CHI Toulon La Seyne-sur-Mer - Hôpital Sainte Musse
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • TOULON
    • Molecular and molecular cytogenetic diagnosis of unexplained mental retardation
    • Azienda Ospedaliera Universitaria Anna Meyer
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • Molecular cytogenetic diagnosis of cryptic subtelomeric anomalies
    • Ospedali Galliera
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • 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
    • More information
    • GERMANY
    • Sachsen-Anhalt
    • HALLE (SAALE)
    • Search for X-Chromosome inactivation studies
    • Karolinska University Hospital - Clinical Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • 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
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • 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
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • LE CHESNAY
    • 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
    • More information
    • FRANCE
    • CENTRE
    • TOURS
    • 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
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • 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
    • More information
    • DENMARK
    • Sjælland
    • GLOSTRUP
    • 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
    • More information
    • 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
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • 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
    • More information
    • GERMANY
    • Bayern
    • NÜRNBERG
    • 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
    • More information
    • ITALY
    • VENETO
    • COSTOZZA DI LONGARE
    • 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
    • More information
    • ROMANIA
    • BUCURESTI
    • BUCURESTI
    • Molecular diagnosis of ARX-related mental retardation (ARX gene: dup24 mutation)
    • NZOZ Centrum Genetyki Medycznej Genesis
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Poznan
    • POZNAN
    • Molecular diagnosis of nonspecific X-linked intellectual deficit (MECP2, ARX genes)
    • Azienda Ospedaliera di Padova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • 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
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • 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
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • 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
    • More information
    • 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
    • More information
    • POLAND
    • Warszawa
    • WARSZAWA
    • Molecular diagnosis of idiopathic mental retardation (subtelomeric rearrangements by MLPA)
    • Hospital Universitario Central de Asturias
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Asturias
    • OVIEDO
    • 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
    • More information
    • 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
    • More information
    • GERMANY
    • Sachsen
    • DRESDEN
    • 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
    • More information
    • 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
    • More information
    • SPAIN
    • Baleares
    • PALMA DE MALLORCA
    • 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
    • More information
    • SPAIN
    • País Vasco
    • SAN SEBASTIÁN
    • Molecular diagnosis of X-linked nonsyndromic intellectual deficit (ARX gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of ARX gene-associated diseases
    • Klinikum Stuttgart - Standort Olgahospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • 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
    • More information
    • SPAIN
    • Comunidad Valenciana
    • SANT JOAN D'ALACANT
    • 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
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular cytogenetic diagnosis of mental retardation, unexplained
    • Laboratori Campisi s.r.l.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • SICILIA
    • AVOLA
    • Molecular cytogenetics diagnosis of unexplained mental retardation
    • Laboratori Campisi s.r.l.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • SICILIA
    • AVOLA
    • 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
    • More information
    • FRANCE
    • CENTRE
    • TOURS
    • Molecular diagnosis of MECP2 gene-associated diseases
    • Klinikum Stuttgart - Standort Olgahospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • Molecular diagnosis of X-linked non-syndromic intellectual disability (IL1RAPL1, IQSEC2 genes; NGS)
    • CHU de Strasbourg - Hôpital Civil
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • ALSACE
    • STRASBOURG
    • 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)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • 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)
    • More information
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • 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)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • 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)
    • More information
    • 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)
    • More information
    • 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)
    • More information
    • FRANCE
    • ALSACE
    • STRASBOURG
    • 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)
    • More information
    • 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)
    • More information
    • FRANCE
    • RHONE-ALPES
    • BRON
    • 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)
    • More information
    • FRANCE
    • HAUTE-NORMANDIE
    • ROUEN
    • 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)
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • MONTPELLIER
    • 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)
    • More information
    • 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)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • 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)
    • More information
    • FRANCE
    • POITOU-CHARENTES
    • POITIERS
    • Molecular cytogenetics search for cryptic subtelomeric anomalies
    • Hotel-Dieu
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • FRANCE
    • RHONE-ALPES
    • CHAMBERY
    • Molecular cytogenetics diagnosis of unexplained mental retardation
    • Azienda Ospedaliera San Gerardo
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LOMBARDIA
    • MONZA
    • Molecular cytogenetics diagnosis of mental retardation unexplained
    • Policlinico Universitario di Chieti
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • ABRUZZO
    • CHIETI
    • Molecular cytogenetics diagnosis of cryptic telomeric deletions
    • Azienda Sanitaria dell'Alto Adige - Ospedale di Bolzano
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • TRENTINO ALTO ADIGE
    • BOLZANO
    • Molecular cytogenetics diagnosis of cryptic subtelomeric anomalies
    • Policlinico Universitario "A. Gemelli"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular cytogenetic diagnosis of unexplained mental retardation
    • Azienda Ospedaliera Pugliese Ciaccio
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • CALABRIA
    • CATANZARO
    • Molecular cytogenetics diagnosis of cryptic subtelomeric deletions
    • Università degli Studi di Brescia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LOMBARDIA
    • BRESCIA
    • Cytogenetics molecular diagnosis of unexplained mental retardation
    • IRCCS OASI Maria Santissima
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • SICILIA
    • TROINA
    • Molecular cytogenetic diagnosis of cryptic rearrangements
    • Università degli Studi dell'Aquila - Coppito
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • ABRUZZO
    • L'AQUILA
    • 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
    • More information
    • ITALY
    • SICILIA
    • PALERMO
    • Molecular cytogenetic diagnosis of subtelomeric cryptic rearrangements
    • Azienda Ospedaliera S. Anna
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • LOMBARDIA
    • SAN FERMO DELLA BATTAGLIA
    • 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
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Molecular cytogenetics diagnosis of unexplained mental retardation
    • AUSL di Imola
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • IMOLA
    • Molecular diagnosis of unexplained mental retardation
    • Azienda Ospedaliera San Giuseppe Moscati
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CAMPANIA
    • AVELLINO
    • Molecular cytogenetic diagnosis of unexplained mental retardation
    • Presidio Ospedaliero "Vito Fazzi" - ASL LE
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • PUGLIA
    • LECCE
    • 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
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BASEL
    • Search of genomic DNA duplications and/or deletions by Spectral Karyotyping - SKY
    • University Children's Hospital - UKBB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of chromosome alterations large in size
    • Technical procedure(s) : M-FISH/SKY, Karyotyping
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • BASEL
    • Molecular cytogenetic diagnosis of mental retardation, unexplained
    • IRCCS Burlo Garofolo - Istituto per l'Infanzia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • Molecular diagnosis of cryptic subtelomeric anomalies
    • IRCCS "E. Medea"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • BOSISIO PARINI
    • Molecular citogenetics diagnosis of idiopathic mental retardation
    • Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • UDINE
    • Molecular diagnosis of unexplained mental retardation
    • IRCCS Arcispedale Santa Maria Nuova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • REGGIO EMILIA
    • 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
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • 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
    • More information
    • ITALY
    • TOSCANA
    • FIRENZE
    • 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
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • Molecular cytogenetic diagnosis of unexplained mental retardation
    • Azienda Ospedaliera di Padova
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Molecular diagnosis of subtelomeric anomalies
    • Azienda Ospedaliera BMM
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • CALABRIA
    • REGGIO CALABRIA
    • 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
    • More information
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • 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
    • More information
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • 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
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • KAISERSLAUTERN
    • 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
    • More information
    • TURKEY
    • TURKEY
    • ISTANBUL
    • 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
    • More information
    • LEBANON
    • Beyrouth
    • BEIRUT
    • Molecular diagnosis of ARX-related diseases (gene sequencing)
    • Amplexa Genetics A/S
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • DENMARK
    • Fyn
    • ODENSE
    • 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
    • More information
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • 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
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • 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
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • 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
    • More information
    • CROATIA
    • CROATIA
    • ZAGREB