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Diagnosis of NARP syndrome (MT-ATP6 gene)

  • Service Maladies hrditaires du mtabolisme, dpistage nonatal et biologie foeto-maternelle
  • Centre de Biologie et Pathologie Est
  • CHU de Lyon HCL - GH Est
  • 59 Boulevard Pinel
  • 69677 BRON CEDEX
  • FRANCE
  • Director of laboratory : Dr Christine VIANEY-SABAN
  • More information
  • Phone : 33 (0)4 72 12 96 32
  • Additional Phone : -
  • Fax : 33 (0)4 72 12 97 20
  • Contact
Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques
Sequence analysis: entire coding region
NGS sequencing (except WES)

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.