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40 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Paramyotonia Congenita (SCN4A gene)
    • LUMC - Leids Universitair Medisch Centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • LEIDEN
    • Accreditation
    • Molecular diagnosis of Paramyotonia congenita (SCN4A gene)
    • National Hospital for Neurology and Neurosurgery
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of SCN4A gene-associated disorders
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of SCN4A gene-associated disorders
    • Centogene AG
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Accreditation
    • Molecular diagnosis of SCN4A gene-associated disorders
    • 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 SCN4A gene-associated disorders
    • Bioscientia Institut für Medizinische Diagnostik GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Rheinland-Pfalz
    • INGELHEIM AM RHEIN
    • Accreditation
    • Molecular diagnosis of SCN4A gene-associated disorders
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of Paramyotonia Congenita (SCN4A gene)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of non-distrophic myotonia: congenital, sodium channel and congenital paramyotonia (CLCN1, SCN4A and DOK7 gene: sequencing of the entire coding region for all genes and deletion/duplication analysis by MLPA for CLCN1 gene)
    • Instituto de Biologia Molecular e Celular
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Accreditation
    • Molecular diagnosis of paramyotonia congenita (SCN4A gene)
    • Labor PD Dr. Volkmann und Kollegen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • KARLSRUHE
    • Accreditation
    • Molecular diagnosis of Paramyotonia Congenita Of Von Eulenburga by NGS: Part of a Muscle Channelopathy 5 gene panel (SCN4A gene)
    • National Hospital for Neurology and Neurosurgery
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Accreditation
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene / sequence analysis exon 12 and entire coding region, deletions-duplications by MLPA)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Accreditation
    • Antenatal and postnatal molecular diagnosis of paramyotonia congenita of von Eulenburg (sequence analysis of the entire coding region and selected exons of SCN4A gene)
    • Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Accreditation
    • Molecular diagnosis of SCN4A gene-associated disorders
    • 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
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
    • Turku University Hospital
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • TURKU
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
    • B.I.R.D. Foundation
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • VENETO
    • COSTOZZA DI LONGARE
    • Preimplantation genetic diagnosis of paramyotonia congenita of Von Eulenburg. SCN4A gene
    • Reprogenetics Spain S.A.
    • Purpose(s) : Pre-implantation diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of SCN4A gene-associated disorders
    • Praxis Dres. Gencik
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Niedersachsen
    • OSNABRÜCK
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg. SCN4A gene.
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (entire coding sequence of SCN4A gene / exons 9, 12-14, 19 and 21-24 sequencing)
    • 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 paramyotonia congenita of Von Eulenburg (SCN4A gene)
    • Medizinische Universität Wien
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of Paramyotonia congenita Von Eulenburg (SCN4A gene)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Prenatal and postnatal molecular diagnosis of neurological muscular channelopathy due to a genetic sodium channel defect (SCN4A gene: sequencing of entire coding region)
    • CGC Genetics / Centro de Genética Clínica
    • Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • PORTUGAL
    • NORTE
    • PORTO
    • Molecular diagnosis of SCN4A gene-associated disorders
    • Klinikum Stuttgart - Standort Olgahospital
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • STUTTGART
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene / entire coding sequence; exons 13, 14, 19, 22, 23, 24)
    • 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 SCN4A gene-associated disorders (sequencing / MPLA)
    • Gemeinschaftspraxis für Humangenetik
    • 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 paramyotonia congenita of Von Eulenburg (SCN4A 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
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A 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
    • Molecular diagnosis of paramyotonia congenita (SCN4A gene)
    • Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Hessen
    • MARBURG
    • Diagnosis of paramyotonia congenita of Von Eulenburg by neuro-muscular biopsy
    • GHU Henri Mondor
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Molecular diagnosis of paramyotonia congenita (SCN4A gene)
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Diagnosis of paramyotonia congenita (muscle and nerve biopsies : histopathology, electron microscopy)
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene: sequencing of exons 6,13,18,19,21,22,23,24)
    • University of Tampere
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • TAMPERE
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • Reference Centre for neuromuscular diseases: neuropathological, molecular analysis and electronic microscopy of muscle, nerv and skin biopsies
    • Universitätsklinikum Aachen
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology, Pathology
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • AACHEN
    • Histological diagnosis of Neuromuscular diseases
    • Universitätsklinikum Bonn
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
    • Instituto de Investigación Hospital 12 de Octubre
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID