Orphanet: Diagnostic du syndrome X fragile FRAXA et FRAXE gènes FMR1 et AFF2
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Diagnosis of Fragile X syndrome FRAXA and FRAXE (FMR1 and AFF2 genes)

  • Service de gntique clinique chromosomique et molculaire
  • Ple de biologie
  • CHU de Saint-Etienne - Hpital Nord
  • Avenue Albert Raimond
  • 42270 SAINT-PRIEST-EN-JAREZ
  • FRANCE
  • Director of laboratory : Dr Renaud L TOURAINE
  • More information
  • Phone : 33 (0)4 77 82 81 16
  • Additional Phone : -
  • Fax : 33 (0)4 77 82 82 59
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Methylation analysis
MLPA based techniques
Deletion / Duplication analysis
PCR based techniques

List of diseases and genes

List of genes tested (including panels) (2)
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