Bcr-Abl 1 Kinase Domain Mutation Analysis

9,000.00

The BCR-ABL1 Kinase Domain Mutation Analysis is a molecular test that detects mutations in the kinase domain of the BCR-ABL1 gene fusion. This fusion gene results from a chromosomal translocation known as the Philadelphia chromosome (t(9;22)(q34;q11)), which is commonly found in:
• Chronic Myeloid Leukemia (CML)
• Philadelphia chromosome-positive Acute Lymphoblastic Leukemia (Ph+ ALL)
The test uses techniques such as RT-PCR and sequencing to identify mutations that may lead to resistance to tyrosine kinase inhibitors (TKIs) like imatinib, dasatinib, or nilotinib.

Description

Why It’s Done:

This test is recommended for:
• Patients with CML or Ph+ ALL who show signs of treatment failure or disease progression while on TKI therapy
• Detecting specific point mutations (e.g., T315I, E255K, Y253H) that confer resistance to certain TKIs
• Guiding treatment decisions, including switching to a more effective TKI or considering alternative therapies (like allogeneic stem cell transplant)
• Monitoring minimal residual disease (MRD) or relapse in patients with prior history of mutation
This analysis helps oncologists personalize therapy based on the mutation profile of the BCR-ABL1 gene.

Preparation:

• No fasting or special preparation is required.
• A blood sample (or sometimes bone marrow aspirate) is collected for analysis.
• Inform your doctor about:
o Current medications
o Any recent chemotherapy or targeted therapies (as this can affect test interpretation)
Results may take several days, depending on the lab and method used.