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22 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(22)
(12)
(6)
(1)
Technique(s)
(5)
(13)
Purpose(s)
(1)
(21)
Quality management
(8)
(18)
Country(ies)
(13)
(5)
(1)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of MICPCH syndrome (CASK 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 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 MICPCH syndrome (CASK gene)
    • 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 microcephaly and pontocerebellar hypoplasia (ASPM, ATR, BUB1B, CASC5, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, CHMP1A, DYNC1H1, DYRK1A, EXOSC3, KIF2A, KIF5C, MBD5, MCPH1, MED17, NIN, PCNT, PNKP, PQBP1, RARS2, RBBP8, SEPSECS, SLC25A19, STAMBP, STIL, TSEN2, TSEN34, TSEN54, TUBG1, VRK1, WDR62, ZNF335 genes: Brain Development Disorders Panel)
    • CeGaT GmbH
    • 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
    • Baden-Württemberg
    • TÜBINGEN
    • Accreditation
    • Molecular diagnosis of X-linked Intellectual Deficit, Najm type (CASK gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • 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
    • Molecular diagnosis of MICPCH syndrome (CASK gene)
    • Institut für Humangenetik am Universitätsklinikum Köln
    • 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
    • Molecular diagnosis of X-linked intellectual deficit, Najm type (aCGH)
    • Genetadi Biotech S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • País Vasco
    • DERIO
    • Molecular diagnosis of MICPCH syndrome (CASK gene)
    • UKE - Universitätsklinikum Hamburg-Eppendorf
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • 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 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 epilepsy (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 epilepsy (Panel)
    • CHU de Lyon HCL - GH Est
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • 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 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 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 diagnosis of type Najm X-linked intellectual deficit (CASK gene)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • 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
    • PARIS
    • Personalised preimplantation genetic diagnosis: microsatellite analysis on the first polar globule
    • Policlinico Universitario di Padova
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • 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)
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE