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Diagnosis of 17-alpha-hydroxylase or cytochrome P450 oxidoreductase deficiency (Panel)
- Service Biochimie et Biologie Moléculaire - Pathologies endocriniennes rénales, musculaires et mucoviscidose
- Centre de Biologie et Pathologie Est
- CHU de Lyon HCL - GH Est
- 59 Boulevard Pinel
- 69677 BRON CEDEX
- FRANCE
- Director of laboratory : Pr Claire RODRIGUEZ-LAFRASSE
- More information
- Phone : 33 (0)4 72 12 96 35
- Additional Phone : -
- Fax : 33 (0)4 72 35 73 35
- 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
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested
(3)
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