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Diagnosis of severe combined immunodeficiency due to IKBKB deficiency (IKBKB gene)

  • Centre d'Etudes des Dficits Immunitaires (CEDI)
  • 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
Last update: August 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (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.