BCR ABL1 Mutation Analysis Test

BCR-ABL1 Mutation Analysis is a diagnostic test used to detect mutations in the BCR-ABL1 fusion gene in Chronic Myeloid Leukemia (CML) patients. It serves as a crucial therapy resistance marker, as specific mutations in the BCR-ABL1 kinase domain can lead to resistance to tyrosine kinase inhibitors (TKIs), the mainstay of CML treatment. By identifying these mutations, the test helps guide treatment decisions by allowing for alternative therapy selection or dose adjustments to overcome drug resistance. Regular monitoring of BCR-ABL1 mutations during treatment enables early detection of resistance and timely intervention, optimizing treatment outcomes in CML patients.

The BCR-ABL1 Mutation Analysis Test detects mutations in the BCR-ABL1 fusion gene, particularly within the ABL1 kinase domain, which is crucial for patients with chronic myeloid leukaemia (CML) and Philadelphia-positive acute lymphoblastic leukaemia (Ph+ ALL). This test helps identify mutations that may cause resistance to tyrosine kinase inhibitors (TKIs), commonly used in treatment. The BCR-ABL1 fusion gene results from a chromosomal translocation between chromosomes 9 and 22, forming the Philadelphia chromosome, which drives leukaemia. By identifying these mutations, the test guides personalised treatment strategies, optimising patient outcomes and improving management of these leukaemias.