Test ID: BTKS
Bruton's Tyrosine Kinase (BTK) Genotype, Full Gene Sequence
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
Useful For Suggests clinical disorders or settings where the test may be helpful
Confirming a diagnosis of X-linked agammaglobulinemia (XLA) in male patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and <1% peripheral B cells, with or without abnormal Bruton’s tyrosine kinase (Btk) protein expression by flow cytometry
Follow-up testing when evaluating symptomatic male family members with an abnormal or equivocal result for Btk-protein expression by flow cytometry (BTK/89011 Bruton’s Tyrosine Kinase [Btk], Protein Expression, Flow Cytometry, Blood)
Evaluating for the presence of BTK mutations in female relatives (of male XLA patients) who do not demonstrate carrier phenotype by Btk flow cytometry
Because genotype-phenotype correlation is important for the diagnosis of XLA, the preferred test for confirming a diagnosis of XLA in males and identifying carrier females is BTKFP/89742 Bruton’s Tyrosine Kinase (BTK) Genotype and Protein Analysis, Full Gene Sequence and Flow Cytometry
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 | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| BTKSP | 29305 | BTK, Full Gene Sequence | No | Yes |
| BTKSQ | 89827 | BTK, Full Gene Sequencing | No | Yes |
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
| Test ID | Test Number | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| NPLXT | 81769 | Rapid DNA Extraction | No | Yes |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, a DNA extraction will always be performed at an additional charge.
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
B-cell progenitor kinase
Bruton agammaglobulinemia tyrosine kinase
Bruton tyrosine kinase
Bruton's tyrosine kinase
BTK
dominant-negative kinase-deficient Brutons tyrosine kinase
Tyrosine-protein kinase BTK
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