Test ID: BTKK
Bruton's Tyrosine Kinase (BTK) Genotype, Known Mutation
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
As a follow-up confirmatory genetic test for relatives of X-linked agammaglobulinemia (XLA) patients with a previously identified Bruton’s tyrosine kinase gene (BTK) mutation, after abnormal Btk protein expression has been previously demonstrated (eg, #89011 "Bruton's 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 #89740 "Bruton's Tyrosine Kinase (BTK) Genotype and Protein Analysis, Known Mutation Sequencing and Flow Cytometry," which provides a comprehensive assessment of both protein and DNA analysis.
Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| BTKKM | BTK Gene, Known Mutation | No | Yes |
| BTKKQ | BTK Gene, Known Mutation Sequencing | No | Yes |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Bruton agammaglobulinemia tyrosine kinase
Bruton's tyrosine kinase
Tyrosine-Protein Kinase BTK (Bruton's Tyrosine Kinase)
Agammaglobulinemia Tyrosine Kinase
Dominant-negative kinase-deficient Brutons tyrosine kinase
Btk (Bruton's Tyrosine Kinase)
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