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13 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(9)
(1)
(1)
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(1)
(1)
(2)
Technique(s)
(3)
(1)
Purpose(s)
(13)
Quality management
(7)
(8)
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(2)
(1)
(6)
(2)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, EGR2, GDAP1, MPZ, GARS, HSPB1, HSPB8, LMNA, and NEFL genes)
    • Medizinische Universität Graz
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • Accreditation
    • Molecular diagnosis of X-linked Distal Spinal Muscular Atrophy 3 (ATP7A gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of X-linked distal spinal muscular atrophy (ATP7A gene)
    • Zentrum für Humangenetik Mannheim
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • MANNHEIM
    • Accreditation
    • Molecular diagnosis of X-linked distal spinal muscular atrophy (ATP7A gene)
    • Labor Lademannbogen
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of X-linked distal spinal muscular atrophy (ATP7A gene)
    • Medizinisch Genetisches Zentrum München
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Accreditation
    • Molecular diagnosis of X-linked distal spinal muscular atrophy (ATP7A gene: : sequencing, MLPA)
    • 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 occipital horn syndrome and distal spinal muscular atrophy type 3 ( X linked distal SMA type 3)
    • Center for Medical Genetics Ghent
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ, LITAF, EGR2, MFN2, TRPV4, and GJB1 genes)
    • Praxis für Humangenetik
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • AUSTRIA
    • WIEN
    • WIEN
    • Molecular diagnosis of X-linked distal spinal muscular atrophy (ATP7A gene)
    • Sistemas Genómicos S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Postnatal molecular diagnosis of Charcot-Marie-Tooth disease (determined by Sanger sequencing and NGS)
    • Azienda Ospedaliera di Padova
    • 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
    • ITALY
    • VENETO
    • PADOVA
    • Postnatal molecular diagnosis of distal hereditary neuropathy (sequence analysis of the entire coding region and selected exons of BSCL2, HSPB1, HSPB3, HSPB8, SETX, GARS, DCTN1, IGHMBP2, PLEKHG5 genes)
    • Università degli Studi di Padova- Polo A.Vallisneri
    • 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
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • 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