Search for a diagnostic test
33 Result(s)
Caption
: Accreditation
= ;

Nordrhein-Westfalen
BOCHUM
Diagnosis of muscular diseases (NGS screening panel: 103 genes)
Ruhr-Universität Bochum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Nordrhein-Westfalen
AACHEN
Diagnosis of myopathies (NGS screening panel: 60 genes)
Universitätsklinikum Aachen
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
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
FREIBURG
Diagnosis of X-linked myopathy with excessive autophagy (VMA21 gene)
SYNLAB MVZ Freiburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
Diagnosis of myopathy /muscular dystrophy (NGS screening panel, 218 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Nordrhein-Westfalen
DORTMUND
Diagnosis of Muscular dystrophy (NGS screening panel: 56 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GRAND-EST
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
Technique(s)
: NGS sequencing (except WES)

Nordrhein-Westfalen
AACHEN
Diagnosis of neurogenetic and neuromuscular diseases (NGS panel, 291 genes)
Universitätsklinikum Aachen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of limb-girdle muscular dystrophy (Panel : second intention)
CHU de Lyon HCL - GH Est
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

Noord-Holland
AMSTERDAM
Molecular diagnosis of Limb-Girdle Muscular Dystrophy (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Nordrhein-Westfalen
AACHEN
Diagnosis of muscular dystrophy including limb girdle dystrophies (NGS screening panel, 43 genes)
Universitätsklinikum Aachen
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Bayern
NEU-ULM
Diagnosis of muscular diseases (NGS screening panel: 102 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

OCCITANIE
MONTPELLIER
Diagnosis of myopathy and muscular dystrophy (Wide 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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

HAINAUT
GOSSELIES
Diagnosis of myopathies (gene panel)
Institut de Pathologie et de Génétique
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

OOST-VLAANDEREN
GENT
Diagnosis of neuromuscular disorders (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of neuromuscular disorders (gene panel)
Cliniques Universitaires de Bruxelles - Hôpital Erasme
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Suisse Romande
GENÈVE
Diagnosis of muscular dystrophy (panel)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

VLAAMS BRABANT
LEUVEN
Diagnosis of neuromuscular disorders (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of limb-girdle muscular dystrophy (Panel)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of neuromuscular diseases (Panel)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of neuromuscular diseases (Whole Exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Bayern
MÜNCHEN
Diagnostics of genetic neuromuscular disease (NGS screening panel: 373 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Madrid
MADRID
Diagnosis of muscular dystrophy (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Madrid
MADRID
Diagnosis of non-dystrophic myopathy (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Galicia
A CORUÑA
Diagnosis of limb-girdle muscular dystrophy (panel)
Health In Code. A Coruña
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

Galicia
A CORUÑA
Diagnosis of neuromuscular diseases (panel - 264 genes)
Health In Code. A Coruña
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

Galicia
A CORUÑA
Diagnosis of structural muscle diseases of childhood and adulthood (panel - 56 genes)
Health In Code. A Coruña
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

EMILIA ROMAGNA
FERRARA
Diagnosis of neuromuscular diseases [panel of genes]
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Comunidad Valenciana
PATERNA
Diagnosis of limb-girdle muscular dystrophy (panel)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Comunidad Valenciana
PATERNA
Diagnosis of myopathy, muscular distrophy and myotonia (panel)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

ILE-DE-FRANCE
CRÉTEIL
Diagnosis of X-linked myopathy with excessive autophagy on muscle biopsy
Hôpitaux Universitaires Henri Mondor
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Pathology

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

Nordrhein-Westfalen
BONN
Histological, histochemical, biochemical and molecular genetic diagnostics of neuromuscular diseases
Universitätsklinikum Bonn (AöR)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics, Pathology
Objective(s)
: Protein expression
Technique(s)
: Immunohistochemistry

NORTE
PORTO