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UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Post-natal molecular diagnosis of Congenital Myasthenic syndromes (RAPSN, CHRNA1, CHRNB1, CHRND, CHRNE, DOK7, CHAT, COLQ, GFPT1 and DPAGT1 genes: by sequence analysis of entire coding region)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of congenital myasthenic syndromes (RAPSN & CHRNE gene)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of congenital myasthenic syndromes (ALG2, ALG14, AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, MUSK, RAPSN, SCN4A, SYT2 genes)
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 congenital myasthenic syndromes (CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, MUSK and SCN4A genes)
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

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of congenital myasthenic syndromes (CHAT, CHRNA1, CHRNE, COLQ, DOK7, RAPSN, SCN4A genes)
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 Congenital Myasthenic Syndrome (CHRNE, RAPSN, COLQ, DOK7 and CHRNA1 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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Acetazolamide-Responsive Myasthenic Syndrome (SCN4A gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of Congenital myasthenic syndromes (CHRNE and SCN4A genes: sequencing of the entire coding region)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of congenital myasthenic syndromes (CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, CHAT, DOK7, GFPT1, MUSK, RAPSN genes: sequencing)
Pränatalmedizin München
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 congenital myasthenic syndromes (CHRNA1, CHRNB1, CHRND, RAPSN, SCN4A 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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of congenital myasthenic syndrome (DOK7, CHAT, CHRNA1, CHRNE, RAPSN, COLQ, AGRN, CHRNB1, CHRND , MUSK, SCN4A genes / sequence analysis entire coding region, NGS)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Bayern
WÜRZBURG

Accreditation
Molecular diagnosis of myopathies by NGS panel analysis
Universität Würzburg - Biozentrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of congenital myasthenic syndromes (CHRNE, RAPSN, ColQ, MUSK, CHRNA1, CHRND, AGRN, DOK7, SCN4A, CHAT, GFPT1, CHRNB1 and DPAGT1 genes; NGS)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of congenital myasthenic syndromes (CHAT, CHRNA1, CHRNE, RAPSN genes)
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

Comunidad Valenciana
PATERNA

Molecular diagnosis of congenital myasthenic syndromes (CHRNA1, CHRND, AGRN, CHAT, COLQ, GFPT1, SCN4A genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of congenital myasthenic syndromes (GFPT1, ALG2, ALG14, DPAGT1 genes)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
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

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of congenital myasthenic syndromes (CHRNA1, CHRND, CHRNE, COLQ, DOK7, MUSK, RAPSN genes)
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) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of congenital myasthenic syndromes (AGRN, CHAT, CHRNE, DOK7, RAPSN genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of congenital myasthenic syndromes (DOK7, CHAT, CHRNA1, CHRNE, RAPSN, COLQ genes)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of postsynaptic congenital myasthenic syndromes (RAPSN gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of congenital myasthenic syndromes (CHRNE, CHAT, and RAPSN genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Prenatal and postnatal molecular diagnosis of congenital myasthenic syndrome (SCN4A, COLQ, CHRNA1 and CHRNB1 genes: sequencing of the 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 congenital myasthenic syndromes (DOK7, RAPSN genes)
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

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of congenital myasthenic syndromes (SCN4A gene: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of postsynaptic congenital myasthenic syndromes (AGRN gene: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of synaptic congenital myasthenic syndromes (COLQ 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)

HUNGARY

Közép-Magyarország
BUDAPEST

Congenitalis myasthenia gravis (CHNRE)
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of congenital myasthenic syndrome (AGRN, COLQ, CHAT, CHRNE, DOK7, RAPSN genes)
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 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)

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)

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

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)

FRANCE

ILE-DE-FRANCE
PARIS

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)

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of parkinsonian disorder (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)

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)

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)

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of congenital myasthenic disorder (CHRNA, CHRNE, RAPSYN genes)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
UNIVERSITY OF TAMPERE

Molecular diagnosis of congenital myasthenic syndrome (partial sequencing of CHAT, DOK7 and RAPSN genes
University of Tampere
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of congenital myasthenic syndromes (muscle and nerve biopsies : histopathology, electron microscopy)
Zentrum für Kinder- und Jugendmedizin Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of congenital myasthenic syndrome (RAPSN, sequencing of promoter and exon 2, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of postsynaptic congenital myasthenic syndromes (CHRNE gene)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of presynaptic congenital myasthenic syndromes (entire coding sequence of CHAT gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of synaptic congenital myasthenic syndromes (entire coding sequence of COLQ gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of postsynaptic congenital myasthenic syndromes (RAPSN, CHRNE, CHRNA1, CHRNB1, CHRND, DOK7, MUSK genes; RAPSN gene / mutation p.Asn88Lys; CHRNE gene / exon 12)
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

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
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of postsynaptic congenital myasthenic syndromes (DOK7 and MUSK genes: entire coding sequence)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of postsynaptic congenital myasthenic syndromes (1267delG mutation in CHRNE gene)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics