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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
  • SPAIN
  • Director of laboratory : Dr Elena GARCA-ARUM
  • More information
  • Phone : 34 934 893 000 ext. 6898
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: December 2017

Responsible of diagnostic test

Purpose(s)

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)
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.