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Diagnosis of X-linked agammaglobulinemia (BTK gene)

  • Laboratorio de Gentica
  • Servicio de Laboratorios Clnicos
  • Hospital Universitari Vall d'Hebron
  • Paseo Vall d'Hebron, 119-129
  • 08035 BARCELONA
  • Director of laboratory : Dr Elena GARCA-ARUM
  • More information
  • Phone : 34 934 893 000 ext. 6898
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: April 2020

Responsible of diagnostic test


Pre-implantation 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
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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