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15 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
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    • Accreditation
    • Molecular diagnosis of bullous congenital ichthyosiform erythroderma (KRT1 and KRT10 genes)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Molecular diagnosis of Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma) by sequencing of the entire coding regions of gene(s) (KRT1 & KRT10 genes)
    • Ninewells Hospital and Medical School
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Tayside
    • DUNDEE
    • Accreditation
    • Molecular diagnosis of Epidermolytic Ichthyosis (KRT1 and KRT10 gene)
    • AZM - Academisch Ziekenhuis Maastricht
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • Accreditation
    • Molecular diagnosis of Ichthyosis, Bullous Type by sequencing of the entire coding region of the gene (Gene: KRT2)
    • Ninewells Hospital and Medical School
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Tayside
    • DUNDEE
    • Accreditation
    • Molecular diagnosis of keratinopathic ichthyosis and variants (KRT1, KRT9, KRT10 genes)
    • Praxis für Humangenetik Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Accreditation
    • Molecular diagnosis of epidermolytic ichthyosis (KRT1 and KRT10 genes)
    • CHU de Toulouse - Hôpital Purpan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
    • Technical procedure(s) : Sanger sequencing
    • More information
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Molecular diagnosis of keratinopathic ichthyosis and variants (KRT1, KRT10 genes)
    • Institut für Humangenetik am Universitätsklinikum Freiburg
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Molecular diagnosis of Epidermolytic Ichthyosis (KRT1, KRT2 and KRT10 gene)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LAZIO
    • ROMA
    • Molecular diagnosis of epidermolytic ichthyosis (KRT1, KRT10 genes / complete sequencing)
    • 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
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Diagnosis of epidermolytic ichthyosis (KRT1, KRT10 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)
    • More information
    • SPAIN
    • Comunidad Valenciana
    • ELCHE
    • Diagnosis of ichthyosis bullosa (histology, immunohistochemistry, electronic microscopy)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics, Pathology
    • Objective(s) : Protein expression
    • Technical procedure(s) : Immunohistochemistry
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of bullous congenital ichthyosiform erythroderma (KRT1 gene)
    • Universitätsklinikum Köln
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN
    • Molecular diagnosis of Congenital bullous ichthyosiform erythroderma (KRT1 and KRT10 genes)
    • Laboratorio de Genética Clínica, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • SAN SEBASTIÁN DE LOS REYES
    • 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 epidermolytic hyperkeratosis (KRT1, KRT10 genes: hotspots) - on request
    • Cologne Center for Genomics (CCG) der Universität zu Köln
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • GERMANY
    • Nordrhein-Westfalen
    • KÖLN