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

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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 less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase (Btk) protein expression by flow cytometry

 

Evaluating for the presence of BTK variants in female relatives (of male XLA patients) who do not demonstrate carrier phenotype by Btk 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

Special Instructions Library of PDFs including pertinent information and forms related to the 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 Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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
Agammaglobulinemia Tyrosine Kinase
Dominant-negative kinase-deficient Brutons tyrosine kinase
Bruton's tyrosine kinase (BTK)
Tyrosine-Protein Kinase BTK