X-Linked agammaglobulinaemia


XLA is an X-linked immunodeficiency characterised by a lack of circulating B cells. In carrier women this manifests as a skewed X-inactivation pattern in their B cells. Affected individuals can be diagnosed on the basis of an abnormality or deficiency of the Bruton�s tyrosine kinase protein (BTK). The Btk gene (encoding for BTK) has 19 exons and family specific mutations are found throughout the gene.

Also known as

Bruton-type agammaglobulinaemia, Agammaglobulinaemia X-linked Type 1 (AGMX1), Immunodeficiency 1 (IMD1), Bruton tyrosine kinase, Agammaglobulinemia tyrosine kinase (ATK), B-cell progenitor kinase (BPK)

Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

Affected patients should be referred to the Molecular Immunology laboratory at GOSH for BTK protein analysis. This requires prior arrangement and completion of specific request forms (contact Dr Kimberly Gilmour in Molecular Immunology, GOSH � Tel: +44 (0) 20 7829 8835, Email: Kimberly.Gilmour@gosh.nhs.uk). We work closely with this department and will undertake mutation screening in appropriate patients.

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

© 2011 Great Ormond Street Hospital for Children NHS Trust