Orphanet: Diagnostic de la d�ficience intellectuelle Whole exome

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Diagnosis of intellectual disability (Whole exome)

  • UF de gnomique du dveloppement
  • Centre de Gntique Molculaire et Chromosomique
  • APHP.Sorbonne Universit, Hpital de la Piti-Salptrire
  • 47-83 boulevard de l'Hpital
  • 75013 PARIS
  • Director of laboratory : Dr Eric LE GUERN
  • More information
  • Phone : 33 (0)1 42 17 76 59
  • Additional Phone : -
  • Fax : 33 (0)1 42 17 76 00
  • Website
Last update: February 2020

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)
Deletion / Duplication analysis
NGS sequencing (except WES)
Deletion / Duplication analysis
PCR based techniques

List of diseases and genes

List of diseases tested (1)
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