Search for a diagnostic test
Diagnosis of peroxisomal diseases (Panel)
- Service Biochimie et Biologie Moléculaire Grand Est - UM Maladies Héréditaires du Métabolisme
- Centre de Biologie et Pathologie Est
- CHU de Lyon HCL - GH Est
- 59 Boulevard Pinel
- 69677 BRON CEDEX
- FRANCE
- Director of laboratory : Dr Cécile ACQUAVIVA-BOURDAIN
- More information
- Phone : 33 (0)4 72 12 96 32
- Additional Phone : -
- Fax : 33 (0)4 72 12 97 20
- Contact
email
Last update: February 2020
Responsible of diagnostic test
Purpose(s)
Antenatal diagnosis
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested
(16)
List of genes tested (including panels)
(44)
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