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Diagnosis of genetic intellectual disability (panel)

  • Service de gntique mdicale
  • Institut Fdratif de Biologie (IFB)
  • CHU de Toulouse - Hpital Purpan
  • 330 avenue de Grande-Bretagne - TSA 40031
  • 31059 TOULOUSE CEDEX 9
  • FRANCE
  • Director of laboratory : Pr Cdric LE CAIGNEC
  • More information
  • Phone : 33 (0)5 67 69 03 99
  • Additional Phone : 33 (0)5 61 77 90 79
  • Fax : 33 (0)5 67 69 04 03
  • Website
  • Contact
Last update: June 2022

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (107)
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.