Search for a diagnostic test
Diagnosis of skin diseases (Panel)
- Service de Génétique Moléculaire
- Hôpital Necker-Enfants Malades
- 149 rue de Sèvres
- 75743 PARIS
- FRANCE
- Director of laboratory : Pr Julie STEFFANN
- More information
- Phone : 33 (0)1 44 49 51 64
- Additional Phone : 33 (0)1 44 38 15 07
- Fax : 33 (0)1 71 19 64 20
- Website
Last update: June 2022
Responsible of diagnostic test
Purpose(s)
Antenatal diagnosis
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Uniparental disomy study
Microsatellite analysis
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested
(120)
List of genes tested (including panels)
(75)
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