TKI Domain Mutations (From NIBD)

Specimen Required

2 EDTA vials containing 3cc blood in each vial

Fasting Required

Purpose of the Test

The test is used to identify mutations in the tyrosine kinase domain of BCR-ABL genes that may cause resistance to TKI therapy. Knowing the presence or absence of these mutations can help determine the most appropriate course of treatment for patients with CML or Ph+ALL.

When this test is required

TKI domain mutation testing is requested when a patient with CML or Ph+ALL is not responding to TKI therapy, or when there is a loss of response after an initial response to TKI therapy.

What the Test Detects

The test is used to identify mutations in the tyrosine kinase domain of the BCR-ABL gene.

Preparation for the Test

There are no specific test preparations needed. Patients should discuss any medications or supplements they are taking with their healthcare provider.

Sample Requirements

The test is usually performed on a blood sample, but in some cases, a bone marrow sample may be needed.

Additional Notes

The test is not recommended for routine monitoring of patients who are responding well to TKI therapy. It is only necessary when there is a concern for resistance to TKI therapy. Additionally, it is important to note that while the presence of a mutation may be associated with resistance to TKI therapy, it does not always guarantee resistance, and the decision to change therapy should be made based on a variety of factors.

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