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Test Details
Test Code:PL0203
Test Name:BCR- ABL Quantitative
Test Details & Preparation
BCR-ABL1 test is done to help diagnose chronic myelogenous leukaemia (CML) or a type of acute lymphoblastic leukaemia (ALL) monitor treatment monitor for recurrence and detect resistance to therapy.

BCR-ABL1 refers to a gene sequence found in an abnormal chromosome 22 of some people with certain forms of leukaemia. Testing is ordered to detect the Philadelphia (Ph) chromosome and BCR-ABL1 gene sequence. It is used to help diagnose CML and specific types of ALL and, rarely, acute myeloid leukaemia (AML) in which the BCR-ABL1 gene sequence is present (BCR-ABL1-positive). It is also used to monitor response to treatment and to monitor for disease recurrence.

The BCR-ABL1 can produce proteins of differing sizes and weights, depending on where the break in chromosome 22 occurred. In CML, the breakpoint in BCR is almost always in the major breakpoint cluster region (M-BCR), leading to the production of BCR-ABL1 protein of a larger size (the protein is called p210).

BCR-ABL1 testing is ordered when a doctor suspects that a person has CML or Philadelphia chromosome (Ph)-positive ALL. Initial testing may be indicated when a person has nonspecific symptoms such as fatigue, weight loss, joint or bone pain, enlarged spleen and as a follow up to abnormal findings on a complete blood count (CBC).

If a person has abnormal white blood cells in the bone marrow and has the Philadelphia (Ph) chromosome and BCR-ABL1 gene sequence, then the individual is diagnosed with CML or Ph-positive ALL.

In general, if the amount of BCR-ABL1 in the blood or bone marrow decreases over time, then the person is responding to treatment. If the quantity of BCR-ABL1 drops below the test's detection level and the person's blood cell counts are normal, then the person is considered to be in remission.

If the BCR-ABL1 level rises, then it indicates disease progression or recurrence. It may also indicate that the person has become resistant to imatinib, the first-generation tyrosine kinase inhibitor. Additional genetic testing is often performed to detect the development of BCR-ABL1 kinase domain mutations associated with imatinib resistance.

If a person with ALL is not positive for the Ph chromosome and the BCR-ABL1 gene sequence, then that person will not be given a tyrosine kinase inhibitor drug and BCR-ABL1 molecular testing cannot be used to monitor the person.
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