Orphanet: Diagnostic de l_ataxie de Friedreich g�ne FXN
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Diagnosis of Friedreich ataxia (FXN gene)

  • Service Toxicologie et Gnopathies - UF
  • 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 Franck BROLY
  • More information
  • Phone : 33 (0)3 20 44 48 01
  • Additional Phone : -
  • Fax : 33 (0)3 20 44 49 57
  • Website
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis
Risk assessment

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

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

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

FRDA (Friedreich ataxia)
2018
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.