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8 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(7)
(5)
(1)
Technique(s)
(4)
(2)
(2)
Purpose(s)
(1)
(7)
Quality management
(2)
(4)
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(4)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis in case of Unexplained Deafness (exome sequencing)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Vohwinkel syndrome with ichthyosis (LOR gene)
    • Pränatalmedizin München
    • Purpose(s) : Antenatal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Molecular diagnosis of keratoderma hereditarium mutilans with ichthyosis (LOR 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)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of keratoderma hereditarium mutilans with ichthyosis (LOR gene / sequencing)
    • Universidad de Salamanca. Facultad de Medicina
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Castilla - León
    • SALAMANCA
    • Molecular diagnosis of Vohwinkel syndrome with ichthyosis (LOR gene)
    • Institut für Humangenetik am Universitätsklinikum Freiburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Electron microscopic diagnosis of ichthyosis
    • Universitäts-Hautklinik Heidelberg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Pathology
    • More information
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • Molecular diagnosis of Vohwinkel syndrome with ichthyosis (LOR gene) - on request
    • Cologne Center for Genomics (CCG) der Universität zu 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
    • Molecular diagnosis of Loricrin Keratoderma (LOR gene)
    • AZM - Academisch Ziekenhuis Maastricht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT