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
  • FRANCE
  • 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

Purpose(s)

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)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.