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 Biologie Molculaire
  • Dpartement de Biochimie et Gntique
  • CHU d'Angers
  • 4 rue Larrey
  • 49933 ANGERS CEDEX 9
  • FRANCE
  • Director of laboratory : Pr Vincent PROCACCIO
  • More information
  • Phone : 33 (0)2 41 35 38 69
  • Additional Phone : -
  • Fax : 33 (0)2 41 35 58 83
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

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