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Diagnosis of autosomal dominant hyper IgE syndrome (STAT3 gene)

  • Centre d'Etudes des Dficits Immunitaires (CEDI)
  • Dpartement Mdico-Universitaire BioPhyGen
  • Hpital Necker-Enfants Malades
  • 149 rue de Svres
  • 75743 PARIS
  • FRANCE
  • Director of laboratory : Pr Capucine PICARD
  • More information
  • Phone : 33 (0)1 44 49 58 96
  • Additional Phone : 33 (0)1 44 49 40 00
  • Fax : 33 (0)1 42 73 06 40
  • 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
Targeted mutation analysis
PCR based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
PCR based techniques

List of diseases and genes

List of genes tested (including panels) (4)
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.