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X-linked Agammaglobulinemia
Bruton type agammaglobulinemia
BTK (Bruton's agammaglobulinemia tyrosine kinase)
Affected individuals are males who have an increased susceptibility to bacterial infections due to severely reduced immunoglobulins of all isotypes. Infections originating in mucosal surfaces are common in patients with XLA, and they may progress to the blood or other organs if left untreated. Pneumonia, meningitis, septic arthritis, cellulitis and septicemia can also be seen in patients with XLA. About 85% of patients with defects in B cell development have XLA, for which BTK is the only known mutated gene. Sequencing can detect about 93% of BTK mutations in males and about 90% in females, while the inclusion of array-based all-exon copy number analysis brings the sensitivity to about 97% for both.
Analysis is performed by bi-directional sequencing of the coding regions and splice sites of exons 2-19 of the BTK gene, as well as the non-coding exon 1. Targeted array CGH analysis with exon-level resolution (ExonArrayDx) is included to evaluate for a deletion or duplication of one or more exons of this gene. This testing requires a blood specimen.
For more details see the Information Sheet linked below:
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Bruton, Agammaglobulinemia, Hypogammaglobulinemia, BTK, XLA, B-cell, Infection, Antibody, B-lymphocyte
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