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14 Result(s)

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Purpose(s)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of muscular dystrophy limb-girdle type 1A-C, E, 2A-G, I, J, L (ANO5, CAPN3, CAV3, DNAJB6, DYSF, FKRP, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, TCAP, TTN genes)
    • Universität Würzburg - Biozentrum
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • WÜRZBURG
    • Accreditation
    • Molecular diagnosis of Limb Girdle Muscular Dystrophy (LMNA gene)
    • International Centre for Life
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Accreditation
    • Molecular diagnosis of Limb-Girdle Muscular Dystrophy (LMNA, DES, CAV3, TCAP, LDB3, MYOZ2 and PLN gene)
    • AZM - Academisch Ziekenhuis Maastricht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of limb-girdle muscular dystrophy type 1D, E, 2A-H, L, Q (ANO5, DES, DNAJB6, DYSF, CAPN3, PLEC, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32)
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of limb-girdle muscular dystrophy type 1A-F (CAV3, DES, DNAJB6, LMNA, MYOT, TNPO3 genes)
    • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    • Purpose(s) : Somatic genetics
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • DORTMUND
    • Molecular diagnosis of limb-girdle muscular dystrophy (multigenic panel - NGS)
    • CIBIR - Centro de Investigación Biomédica de La Rioja
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • SPAIN
    • La Rioja
    • LOGROÑO
    • Molecular diagnosis of muscular dystrophy limb-girdle type 1D (DNAJB6 gene)
    • 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) : Sanger sequencing
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN
    • Diagnosis of sarcoglycanopathies and limb-girdle muscular dystrophies on muscle biopsy
    • GHU Henri Mondor
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • CRÉTEIL
    • Diagnosis of limb-girdle muscular dystrophy type 1A-D, 2A-K (analysis on muscle and nerve biopsies : histopathology, immunohistochemistry, electron microscopy)
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Protein expression
    • Technical procedure(s) : Immunohistochemistry
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of Limb girdle muscular dystrophy (DYSF , Mutation analysis, Carrier detection)
    • Assaf Harofeh Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • BEER YAAKOV
    • 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 limb-girdle muscular dystrophy type 1D (DNAJB6 gene: sequencing of exon 5)
    • University of Tampere
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FINLAND
    • Finland
    • TAMPERE
    • Postnatal molecular diagnosis of limb-girdle muscular dystrophies (MYOT, LMNA, CAV3, DES, DNAJB6, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, FKRP, ANO5, FKTN genes)
    • IRCCS Fondazione Santa Lucia
    • 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) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • ITALY
    • LAZIO
    • ROMA