Search for a diagnostic test
3 Result(s)
Caption
: Accreditation
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GERMANY
Baden-Württemberg
FREIBURG
Molecular diagnosis of punctate palmoplantar keratoderma type 1 (AAGAB, COL14A1 genes)
Institut für Humangenetik am Universitätsklinikum 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

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)

FRANCE
ILE-DE-FRANCE
PARIS