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Bruton Tyrosine Kinase, Protein Expression, Flow Cytometry, Blood

Reporting Name

Btk Protein Flow, B

Useful For

Preliminary screening for X-linked agammaglobulinemia, primarily in male patients (<65 years) or female carriers (child-bearing age: <45 years)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Ordering Guidance


Bruton tyrosine kinase (BTK) protein and genetic tests are not meant for patients with hematological neoplasias on kinase inhibitor therapy, including but not restricted to the selective BTK inhibitor, ibrutinib. This test is only meant for the assessment of patients with a suspected monogenic primary immunodeficiency, X-linked agammaglobulinemia, caused by germline variants in the Bruton tyrosine kinase gene.

 

The preferred test for confirming a diagnosis of X-linked agammaglobulinemia in male patients and identifying female carriers is BTKSG / Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies.

 

In families where a BTK variant has already been identified, order FMTT / Familial Variant, Targeted Testing, Varies.



Shipping Instructions


Testing is performed Monday through Friday. Specimens not received by 4 p.m. (CST) on Friday may be canceled.

 

Samples arriving on the weekend and observed holidays may be canceled.

 

Collect and package specimen as close to shipping time as possible.

 

It is recommended that specimens arrive within 24 hours of collection.



Necessary Information


Ordering healthcare professional name and phone number are required.



Specimen Required


Container/Tube: Lavender top (EDTA)

Specimen Volume: 4 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Ambient 48 hours PURPLE OR PINK TOP/EDTA

Reference Values

Present

Day(s) Performed

Monday through Friday

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

88184

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BTK Btk Protein Flow, B 75708-8

 

Result ID Test Result Name Result LOINC Value
89011 Btk Protein Flow, B 75708-8

Report Available

3 to 4 days

Reject Due To

Gross hemolysis Reject
Gross lipemia Reject

Method Name

Flow Cytometry

Method Description

The Bruton tyrosine kinase (BTK) protein expression screening assay is performed on a whole blood sample. The cells in the blood are stained with antihuman CD20 (B cells) and CD14 (monocytes) antibodies followed by red blood cell lysis (using a premade Lysis buffer), cell fixation, and permeabilization to prepare the cell membrane for the anti-human BTK antibody. After the permeabilization step, the cells are stained for intracellular BTK using antihuman BTK-fluorescent pre-conjugated antibody. After the staining and wash process, the cells are fixed and analyzed by multiparametric flow cytometry.(Unpublished Mayo method)