Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Confirming a diagnosis of X-linked agammaglobulinemia (XLA) in male patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase (Btk) protein expression by flow cytometry
Evaluating for the presence of BTK variants in female relatives (of male XLA patients) who do not demonstrate carrier phenotype by Btk flow cytometry
Test ID | Reporting Name | Available Separately | Always Performed |
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BTKSP | BTK, Full Gene Sequence | No | Yes |
BTKSQ | BTK, Full Gene Sequencing | No | Yes |
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis