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Diagnosis of NARP syndrome (MT-ATP6 gene)

  • Service Toxicologie et Gnopathies - UF "Gnopathies"
  • Institut de Biochimie et Biologie Molculaire
  • CHU de Lille - Centre de Biologie Pathologie Gntique
  • Boulevard du Pr Jules Leclercq
  • 59037 LILLE CEDEX
  • FRANCE
  • Director of laboratory : Pr Thierry BROUSSEAU
  • More information
  • Phone : 33 (0)3 20 44 48 01
  • Additional Phone : -
  • Fax : 33 (0)3 20 44 49 57
  • Website
Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
PCR based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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.