x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of mitochondrial diseases (Clinical exome)

  • Laboratoire de génétique chromosomique et génétique moléculaire
  • Service de génétique
  • CHU de Nice - Hôpital l'Archet 2
  • 151 Route Saint-Antoine de Ginestière BP 3079
  • 06202 NICE CEDEX 3
  • FRANCE
  • Director of laboratory : Pr Véronique PAQUIS-FLUCKLINGER
  • More information
  • Phone : 33 (0)4 92 03 64 60
  • Additional Phone : 33 (0)4 92 03 62 43
  • Fax : 33 (0)4 92 03 64 65
  • Website
  • Contact
Last update: December 2022

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)
Deletion / Duplication analysis
NGS sequencing (except WES)
Deletion / Duplication analysis
PCR based techniques

List of diseases and genes

List of diseases tested (1)
Mitochondrial disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.