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Diagnosis of X-linked agammaglobulinemia (BTK gene)

  • Department of Clinical Genetics (Klinisk genetik)
  • Karolinska University Hospital
  • Karolinska Universitetssjukhuset - Solna
  • 17176 STOCKHOLM
  • SWEDEN
  • Director of laboratory : Dr Maria SOLLER
  • More information
  • Phone : 46 8 51770444
  • Additional Phone : 46 8 51772642
  • Fax : -
  • Website
Last update: February 2021

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Cytogenetics
Detection of microdeletions/microduplications
MLPA based techniques

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.