|Values are valid only on day of printing.|
As a follow-up confirmatory genetic test for relatives of X-linked agammaglobulinemia (XLA) patients with a previously identified Bruton tyrosine kinase gene (BTK) mutation, after abnormal Btk protein expression has been previously demonstrated (eg, BTK / Bruton Tyrosine Kinase [Btk], Protein Expression, Flow Cytometry, Blood)
Because genotype-phenotype correlations are important, the preferred test for confirming a diagnosis of XLA in males and identifying carrier females in families where a BTK mutation has already been identified is BTKMP / Bruton Tyrosine Kinase (BTK) Genotype and Protein Analysis, Known Mutation Sequencing and Flow Cytometry, which provides a comprehensive assessment of both protein and DNA analysis.
|Test ID||Reporting Name||Available Separately||Always Performed|
|BTKKM||BTK Gene, Known Mutation||No||Yes|
|BTKKQ||BTK Gene, Known Mutation Sequencing||No||Yes|
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)