Philadelphia Chromosome (bcr/abl - Quantitative)

Interpretation:

Presence of BCR-ABL as well as abnormal CBC report confirms the diagnosis of Chronic Myeloid Leukemia (CML) or Ph-positive, Acute Lymphoblastic Leukemia (ALL). The Test is intended as an aid in the assessment of major molecular response (MMR), minimal residual disease and relapse. Increasing amount of BCR-ABL in blood or bone marrow signifies drug resistance and treatment failure, while decreasing levels signify that treatment is working. If levels of BCR-ABL remain constant, this could mean disease is stable.

Requirements: This test can be done on blood sample and bone marrow biopsy sample as well. No Fasting or other special preparations required.

Other name: BCR-ABL1, BCR-ABL1 fusion

Chromosomes are part of your cells which contains genes. They carry information that determines your unique traits, such as height and eye colour. People normally have 23 pairs (46 chromosomes) in each cell. Each pair contains 2 chromosomes, one coming from each parent.

A BCR-ABL genetic test looks for a genetic mutation (change) on a specific chromosome. BCR-ABL is a mutation that is formed by the combination of two genes, known as BCR and ABL. It's sometimes called a fusion gene. BCR and ABL are two separate genes on two different chromosomes. However, these two genes break from their location and join to form new fusion gene. This is known as “Philadelphia chromosome”.

The BCR-ABL gene shows up in patients with certain types of Leukemia, a cancer of the bone marrow and white blood cells. BCR-ABL is found in almost all patients with a type of leukemia called chronic myeloid leukemia (CML). Some acute lymphoblastic leukemia (ALL) patients also have this mutation, which are referred as PH-positive. Ie. Philadelphia Chromosome was found.

BCR-ABL test is done to know whether BCR-ABL mutation or Philadelphia Chromosome is found. This can be either qualitative or quantitative. A qualitative test will only note the presence of mutation while quantitative test gives the extent to which mutation is present, and continuous testing of its levels is crucial to monitor the treatment.

BCR-ABL testing is primarily used for the following:

• Used to diagnose or rule out chronic myeloid leukemia (CML) 
• To diagnose specific form of acute lymphoblastic leukemia (ALL) called Ph-positive ALL. 
• To monitor the treatment

To monitor drug resistance, if any

• If you have been diagnosed with Leukemia
• If you have been diagnosed with Acute Lymphoblastic Leukemia (ALL)
• If you are currently undergoing treatment for CML or PH-positive ALL