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NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Paramyotonia Congenita (SCN4A gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Paramyotonia congenita (SCN4A gene)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of SCN4A gene-associated disorders
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of SCN4A gene-associated disorders
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of 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

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of SCN4A gene-associated disorders
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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of SCN4A gene-associated disorders
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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Paramyotonia Congenita (SCN4A gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

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

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of paramyotonia congenita (SCN4A gene)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

GERMANY

Baden-Württemberg
MANNHEIM

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of SCN4A gene-associated disorders
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of SCN4A gene-associated disorders
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

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Paramyotonia Congenita (SCN4A NGS analysis)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

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, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FINLAND

Finland
TURKU

Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
COSTOZZA DI LONGARE

Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Preimplantation genetic diagnosis of paramyotonia congenita of Von Eulenburg. SCN4A gene
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of SCN4A gene-associated disorders
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of paramyotonia congenita of Von Eulenburg. SCN4A gene.
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
ARMILLA

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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Paramyotonia congenita Von Eulenburg (SCN4A gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

La Rioja
LOGROÑO

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

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of paramyotonia congenita of Von Eulenburg (SCN4A gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

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

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of SCN4A gene-associated disorders
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

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

GERMANY

Sachsen
DRESDEN

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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

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, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
ELCHE

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)

FRANCE

ALSACE
STRASBOURG

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

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of neuromuscular junction disease (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)

GERMANY

Hessen
MARBURG

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

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of paramyotonia congenita of Von Eulenburg by neuro-muscular biopsy
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of paramyotonia congenita (SCN4A gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

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

FINLAND

Finland
UNIVERSITY OF TAMPERE

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

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

GERMANY

Nordrhein-Westfalen
AACHEN

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

GERMANY

Nordrhein-Westfalen
BONN

Histological diagnosis of Neuromuscular diseases
Universitätsklinikum Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

SPAIN

Madrid
MADRID

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