Search for a diagnostic test
7 Result(s)
Caption
: Accreditation
= ;

GERMANY
Baden-Württemberg
FREIBURG
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
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

GERMANY
Bayern
MÜNCHEN
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
Technique(s)
: Sanger sequencing

GERMANY
Baden-Württemberg
FREIBURG
Molecular 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

AUSTRIA
WIEN
WIEN
Molecular diagnosis of inherited non-syndromic ichthyoses (GJA1, GJB1, KRT1, KRT2, and STS genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

HUNGARY
Dél-Alföld
SZEGED