Orphanet: Diagnostic de la d�ficience intellectuelle Exome m�dicale
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Diagnosis of intellectual disability (Medical exome)

  • Laboratoire de gntique molculaire
  • Service de gntique mdicale
  • CHU de Nantes - Institut de Biologie
  • 9 quai Moncousu
  • 44093 NANTES CEDEX 1
  • FRANCE
  • Director of laboratory : Pr Stphane BEZIEAU
  • More information
  • Phone : 33 (0)2 40 08 40 20
  • Additional Phone : -
  • Fax : 33 (0)2 40 08 40 26
  • Website
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)

List of diseases and genes

List of diseases tested (211)
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.