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GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of superficial epidermolytic ichthyosis (KRT2 gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
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

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
Technique(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of ichthyosis (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Andalucía
MÁLAGA

Diagnosis of superficial epidermolytic ichthyosis (KRT2 gene)
IMEGEN - Delegación Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), 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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of superficial epidermolytic ichthyosis (KRT2 gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of superficial epidermolytic ichthyosis (KRT2 gene)
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 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

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

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of keratinization troubles (histology, immunohistochemistry, electron 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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of superficial epidermolytic ichthyosis (KRT2 gene)
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

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