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Molecular diagnosis of autosomal recessive hyper-IgM syndrome (AICDA and CD40 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 21/02/2017
  • Laboratorio di Immunologia Pediatrica
  • Dipartimento di Scienze della Salute
  • Azienda Ospedaliera Universitaria Anna Meyer
  • Viale Pieraccini 24
  • 50139 FIRENZE
  • ITALY
  • Director of laboratory : Pr Chiara AZZARI
  • More information
  • Phone : 39 055 5662481
  • Additional Phone : -
  • Fax : 39 055 5662849
  • Website
  • Contact
Last update: February 2017

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (2)
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.