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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Skin Fragility-Woolly Hair Syndrome (DSP gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of skin fragility-woolly hair-palmoplantar keratoderma syndrome (DSP gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Skin fragility-woolly hair-palmoplantar keratoderma syndrome (DSP gene)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of skin fragility-woolly hair-palmoplantar keratoderma syndrome syndrome (DSP gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of skin fragility-woolly hair-palmoplantar keratoderma syndrome (sequence analysis of the entire coding region of DSP gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
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)