Orphanet: Diagnostic de l_ataxie c�rebelleuse autosomique dominante de type 7 g�ne ATXN7
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Diagnosis of autosomal dominant spinocerebellar ataxia type 7 (ATXN7 gene)

  • UF de Neurogntique Molculaire et Cellulaire
  • Centre de gntique molculaire et chromosomique
  • CHU Paris-GH La Piti Salptrire-Charles Foix - Hpital Piti-Salptrire
  • 47-83 boulevard de l'Hpital
  • 75013 PARIS
  • FRANCE
  • Director of laboratory : Dr Eric LE GUERN
  • More information
  • Phone : 33 (0)1 42 17 76 52
  • Additional Phone : -
  • Fax : 33 (0)1 42 17 76 18
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques
Mutation scanning/screening and sequence analysis of selected exons
PCR 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

SCA (Spinocerebellar ataxias)
2014
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