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Diagnosis of mitochondrial diseases (Panel)
- UF de cardiogénétique et myogénétique moléculaire et cellulaire
- Centre de génétique moléculaire et chromosomique
- AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
- 47-83 boulevard de l'Hôpital
- 75013 PARIS
- FRANCE
- Director of laboratory : Dr Pascale A RICHARD
- More information
Last update: March 2022
Responsible of diagnostic test
Purpose(s)
Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis
Technical procedure(s)
Molecular genetics
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested
(130)
List of genes tested (including panels)
(176)
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