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FRANCE

ILE-DE-FRANCE
PARIS

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

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular diagnosis of Epidermolytic Ichthyosis (KRT1 and KRT10 gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of keratinopathic ichthyosis and variants (KRT1, KRT9, KRT10 genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

MIDI-PYRENEES
TOULOUSE

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

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of keratinopathic ichthyosis and variants (KRT1, KRT2, KRT9, KRT10 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Tayside
DUNDEE

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

UNITED KINGDOM

Tayside
DUNDEE

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

GERMANY

Baden-Württemberg
FREIBURG

Molecular diagnosis of keratinopathic ichthyosis and variants (KRT1, KRT10 genes)
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

ITALY

LAZIO
ROMA

Molecular diagnosis of Epidermolytic Ichthyosis (KRT1, KRT2 and KRT10 gene)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

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, Whole Exome Sequencing (WES)

SPAIN

Comunidad Valenciana
ELCHE

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)

FRANCE

ILE-DE-FRANCE
PARIS

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

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of bullous congenital ichthyosiform erythroderma (KRT1 gene)
Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

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

GERMANY

Baden-Württemberg
HEIDELBERG

Electron microscopic diagnosis of ichthyosis
Universitäts-Hautklinik Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Nordrhein-Westfalen
KÖLN

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

HUNGARY

Dél-Alföld
SZEGED

Ichthyosis
University of Szeged Deparment of Medical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing