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Diagnosis of lysosomal diseases (Panel)
- Laboratoire de Biochimie Métabolique
- Institut de Biologie Clinique
- CHU de Rouen
- 37 Bd Gambetta
- 76000 ROUEN CEDEX
- FRANCE
- Director of laboratory : Pr Soumeya BEKRI
- More information
- Phone : 33 (0)2 32 88 81 24
- Additional Phone : -
- Fax : 33 (0)2 32 88 83 41
- Contact
email
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
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested
(90)
List of genes tested (including panels)
(51)
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