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UNITED KINGDOM

Tayside
DUNDEE

Accreditation
Molecular diagnosis of Acral Skin Peeling Syndrome -APSS (Sequence analysis of TGM5 gene)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of generalized peeling skin syndrome type B (CDSN gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Catalua
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of peeling skin syndrome type B (CDSNgene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Castilla - Len
SALAMANCA

Diagnosis of peeling skin syndrome type B (CDSN gene)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Generalized peeling skin syndrome type B (CDSN gene: sequencing of the entire coding region)
CGC Genetics / Centro de Gentica Clnica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Baden-Wrttemberg
FREIBURG

Molecular diagnosis of generalized peeling skin syndrome (CDSN, TGM5 genes)
Institut fr Humangenetik am Universittsklinikum Freiburg
Purpose(s) : 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

GERMANY

Baden-Wrttemberg
HEIDELBERG

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

GERMANY

Baden-Wrttemberg
FREIBURG

Molecular diagnosis of generalized peeling skin syndrome type B (CDSN gene)
Universitts-Klinik fr Dermatologie und Venerologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
TOULOUSE

Immunochemical diagnosis of type B peeling skin syndrome
CHU de Toulouse - Hpital Larrey
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

HUNGARY

Dl-Alfld
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

HUNGARY

Dl-Alfld
SZEGED

Epidermolysis bullosa
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