Search for a diagnostic test
30 Result(s)
Caption
: Accreditation
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UNITED KINGDOM
Tayside
DUNDEE
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

NETHERLANDS
Limburg
MAASTRICHT
Molecular diagnosis of Epidermolytic Ichthyosis (KRT1 and KRT10 gene)
Maastricht UMC+
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

UNITED KINGDOM
Tayside
DUNDEE
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
Diagnosis of keratinopathic ichthyosis and variants (KRT1, KRT9, KRT10 genes)
SYNLAB MVZ Freiburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of hereditary palmoplantar keratoderma (gene panel)
Reference Laboratory Genetics
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of skin diseases (Panel)
Hôpital Necker-Enfants Malades
Purpose(s)
: Antenatal diagnosis, 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, Uniparental disomy study, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Microsatellite analysis

GERMANY
Bayern
MÜNCHEN
Diagnosis of keratinopathic ichthyosis and variants (KRT1, KRT2, KRT9, KRT10 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

AUSTRIA
TIROL
INNSBRUCK
Molecular diagnosis of Epidermolytic ichthyosis and Annular epidermolytic ichthyosis (KRT10 gene, exons 1 and 6)
Medizinische Universität Innsbruck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

FRANCE
NOUVELLE AQUITAINE
BORDEAUX
Diagnosis of palmoplantar keratoderma (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

GERMANY
Baden-Württemberg
TÜBINGEN
Diagnosis of skin diseases (NGS screening panel, 253 genes)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of rare genetic skin diseases (gene panel)
Erasme Hospital - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ITALY
TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of genodermatosis characterized by keratinization disorders [panel of genes]
MAGI'S LAB srl
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

BELGIUM
VLAAMS BRABANT
LEUVEN
Diagnosis of ichthyosis (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

BELGIUM
VLAAMS BRABANT
LEUVEN
Diagnosis of keratinopathic ichthyosis (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

FRANCE
OCCITANIE
TOULOUSE
Diagnosis of congenital ichthyosis, epidermolysis bullosa and palmoplantar keratoderma (Panel)
CHU de Toulouse - Hôpital Purpan
Purpose(s)
: Antenatal diagnosis, 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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

FRANCE
ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of congenital ichthyosis (Panel)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of autosomal dominant epidermolytic ichthyosis (KRT1 and KRT10 genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Baden-Württemberg
FREIBURG
Diagnosis of keratinopathic ichthyosis and variants (KRT1, KRT2, KRT10 genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s)
: Antenatal diagnosis, 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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

ITALY
LAZIO
ROMA
Molecular diagnosis of Epidermolytic Ichthyosis (KRT1, KRT2 and KRT10 gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except 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
Technique(s)
: NGS sequencing (except WES)

AUSTRIA
WIEN
WIEN
Molecular diagnosis of epidermolytic hyperkeratosis (KRT1 und KRT10 genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
País Vasco
SAN SEBASTIÁN
Diagnosis of autosomal dominant epidermolytic ichthyosis (KRT1, KRT10 genes)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of inherited epidermolysis bullosa (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of epidermolytic ichthyosis (KRT1 and KRT10 genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Comunidad Valenciana
VALENCIA
Diagnosis of epidermolytic ichthyosis (KRT1, KRT10 genes)
Hospital Universitario y Politécnico La Fe
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ITALY
VENETO
PADOVA
Diagnosis of ichthyosis [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of ichthyosis bullosa (histology, immunohistochemistry, electronic microscopy)
Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics, Pathology
Objective(s)
: Protein expression
Technique(s)
: Immunohistochemistry

GERMANY
Baden-Württemberg
HEIDELBERG
Electron microscopic diagnosis of ichthyosis
Institut für Pathologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Pathology

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
Technique(s)
: Sanger sequencing

AUSTRIA
WIEN
WIEN