BTKK - Overview: Bruton Tyrosine Kinase (BTK) Genotype, Known Mutation

Test Catalog

Test Name

Test ID: BTKK    
Bruton Tyrosine Kinase (BTK) Genotype, Known Mutation

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 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.

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 IDReporting NameAvailable SeparatelyAlways Performed
BTKKMBTK Gene, Known MutationNoYes
BTKKQBTK Gene, Known Mutation SequencingNoYes

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.


Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

BTK Gene, Known Mutation

Aliases Lists additional common names for a test, as an aid in searching

B-cell progenitor kinase
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)