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34 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of myoclonus progressive epilepsy of Unverricht and Lundborg (CSTB gene)
    • 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 diagnosis of progressive myoclonic epilepsy, Unverricht-Lundborg type (CSTB gene)
    • Hôpitaux Universitaires de Genève HUG
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Accreditation
    • Molecular diagnosis of myoclonus progressive epilepsy of Unverricht and Lundborg (CSTB gene dodecamer expansion mutation, c.67-1G>C, c.202C>T and c.218_219delTC)
    • HUCH - Helsinki University Central Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • FINLAND
    • Finland
    • HELSINKI
    • Accreditation
    • Molecular diagnosis of Progressive Myoclonic Epilepsy type 1 and 6 (CSTB and GOSR2 gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of Progressive Myoclonic Epilepsy type 1A and B; Unverricht-Lundborg Disease (CSTB and PRICKLE1 gene)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Molecular diagnosis of myoclonus progressive epilepsy of Unverricht and Lundborg
    • Institut de Pathologie et de Génétique - Gosselies
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • BELGIUM
    • HAINAUT
    • GOSSELIES
    • Accreditation
    • Molecular diagnosis of myoclonus progressive epilepsy of Unverricht and Lundborg (CSTB gene)
    • 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 diagnosis of myoclonus progressive epilepsy of Unverricht and Lundborg (CSTB, PRICKLE1, SCARB2 genes: sequencing)
    • 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 Unverricht-Lundborg disease -Progressive Myoclonus Epilepsy type 1 (CSTB gene)
    • Salisbury District Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Wiltshire
    • SALISBURY
    • Accreditation
    • Molecular diagnosis of myoclonus progressive epilepsy of Unverricht and Lundborg (CSTB gene)
    • Bioscientia Institut für Medizinische Diagnostik 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
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of Progressive Myoclonic Epilepsy type 1A and 6 (CSTB and GOSR2 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 Progressive Myoclonic Epilepsy (multigene panel; 8 genes)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Accreditation
    • Diagnosis of Unverricht-Lundborg disease (CSTB gene)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Molecular diagnosis of myoclonus progressive epilepsy of Unverricht and Lundborg (CSTB, PRICKLE1 genes)
    • Pränatalmedizin München
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Diagnosis of epilepsy (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
    • Molecular diagnosis of myoclonus progressive epilepsy of Unverricht and Lundborg (CSTB gene)
    • Ospedali Galliera
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular diagnosis of myoclonus progressive epilepsy of Unverricht and Lundborg (CSTB gene)
    • CHU de Lyon HCL - GH Edouard Herriot
    • 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, Deletion / Duplication analysis
    • Technical procedure(s) : Sanger sequencing, PCR based techniques, MLPA based techniques
    • More information
    • FRANCE
    • RHONE-ALPES
    • LYON
    • Molecular diagnosis of Unverricht-Lundborg disease
    • Maribor general hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SLOVENIA
    • SLOVENIA
    • MARIBOR
    • Molecular diagnosis of Unverricht-Lundborg disease (CSTB gene)
    • Instytut Psychiatrii i Neurologii
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • POLAND
    • Warszawa
    • WARSAW
    • Molecular diagnosis of Unverricht-Lundborg disease (detection of expanded alleles in CSTB gene)
    • Hospital Universitario Central de Asturias
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Asturias
    • OVIEDO
    • Molecular diagnosis of Unverricht-Lundborg disease (CSTB gene / entire coding sequence)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of Unverricht-Lundborg disease (CSTB gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Diagnosis of rare epilepsy (gene panel)
    • 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 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 hereditary ataxia (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 autosomal dominant ataxia (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
    • Diagnosis of recessive ataxia (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
    • Diagnosis of epileptic encephalopathy (Panel)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • 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
    • Molecular diagnosis of Unverricht-Lundborg disease (CSTB gene sequencing)
    • Amplexa Genetics A/S
    • 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
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • DENMARK
    • Fyn
    • ODENSE
    • Molecular diagnosis of Unverricht-Lundborg disease (CSTB gene / dodecamer expansion / mutations c.10G>C, c.67-1G>C, C.169-2A>G, C.202C>T and C.218_219delTC)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : PCR based techniques
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Diagnosis of Unverricht-Lundborg disease (PRICKLE1 gene)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES