BTKS - Overview: Bruton Tyrosine Kinase (BTK) Genotype, Full Gene Sequence

Test Catalog

Test Name

Test ID: BTKS    
Bruton Tyrosine Kinase (BTK) Genotype, Full Gene Sequence

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 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 / Bruton 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 / Bruton 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 IDReporting NameAvailable SeparatelyAlways Performed
BTKSPBTK, Full Gene SequenceNoYes
BTKSQBTK, Full Gene 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, Full Gene Sequence

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)