Agammaglobulinemia (BTK) Gene Analysis

The Agammaglobulinemia (BTK) Gene Analysis test is a genetic test used to detect disease-causing variants in the BTK (Bruton’s Tyrosine Kinase) gene, which is associated with X-linked agammaglobulinemia (XLA). This inherited immune disorder affects the development of B lymphocytes, resulting in very low or absent antibody production and an increased risk of recurrent bacterial infections. Identifying a BTK gene mutation helps confirm the diagnosis, supports appropriate treatment, and enables genetic counselling for affected families.

Who Should Get This Test Done?

This test may be recommended for:

●     Children or adults with recurrent or severe bacterial infections and suspected primary immunodeficiency.

●     Individuals with very low or absent immunoglobulin levels and reduced B-cell counts.

●     Individuals with a clinical suspicion of X-linked agammaglobulinemia.

●     Family members of individuals diagnosed with a BTK gene mutation who require carrier or genetic testing.

●     Individuals whose healthcare provider recommends genetic confirmation of an inherited immune disorder.

Why Consider This Test?

●     Detects disease-causing variants in the BTK gene associated with X-linked agammaglobulinemia.

●     Helps confirm the diagnosis of a hereditary primary immunodeficiency.

●     Supports early diagnosis, allowing timely treatment and infection prevention.

●     Assists in genetic counselling, carrier detection, and family screening.

●     Provides valuable information for long-term clinical management and follow-up.

More Information

The BTK gene provides instructions for producing Bruton’s tyrosine kinase, a protein essential for the normal development and maturation of B lymphocytes, the cells responsible for producing antibodies. Variants in this gene can impair antibody production, making individuals more susceptible to recurrent infections. BTK gene analysis is performed using advanced molecular techniques and is interpreted alongside the patient’s clinical history, immunoglobulin levels, B-cell studies, and other immunological investigations to establish a definitive diagnosis.

Other Names

●     BTK Gene Mutation Analysis

●     Bruton’s Tyrosine Kinase (BTK) Gene Test

●     X-Linked Agammaglobulinemia (XLA) Genetic Test

●     BTK Molecular Analysis

●     BTK Gene Sequencing