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)
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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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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.
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis