Orphanet: Diagnostic des d�ficits intellectuels li�s au g�ne ARX recherche de mutations et de la duplication c.428_451dup r�currente de l_exon 2
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Diagnosis of intellectual deficits linked to an ARX gene mutation

  • Laboratoire de gntique molculaire
  • Plateau Technique de Biologie Molculaire (PTBM) - Tripode 1er tage
  • CHU de Bordeaux-GH Pellegrin
  • Place Amlie Raba-Lon
  • 33076 BORDEAUX CEDEX
  • FRANCE
  • Director of laboratory : Pr Benot ARVEILER
  • More information
  • Phone : 33 (0)5 56 79 59 81
  • Additional Phone : 33 (0)5 56 79 87 23
  • Fax : 33 (0)5 56 79 56 48
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)
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