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What is this test?

The ABL1 gene c.944C>T test is a molecular genetic test that looks for a specific mutation (change) in the ABL1 gene. This gene provides instructions for making a protein involved in cell growth and division. The c.944C>T mutation creates a specific change in the ABL1 protein (known as T315I), which can affect how certain cancer medications work.

Why do I need this test?

Your doctor may order this test if you have been diagnosed with leukemia, particularly chronic myeloid leukemia (CML) or Philadelphia chromosome-positive acute lymphoblastic leukemia (ALL). This test helps determine whether the leukemia cells carry the c.944C>T (T315I) mutation, which can make certain targeted therapies less effective. The results help your doctor choose the most appropriate treatment for your specific condition.

How is the test done?

The test requires a sample of your blood or bone marrow. For a blood test, a healthcare provider will draw blood from a vein in your arm. For a bone marrow test, a small sample of liquid bone marrow is collected from your hip bone using a thin needle. The sample is then sent to a laboratory where scientists use specialized molecular techniques to look for the c.944C>T mutation in the ABL1 gene.

What do the results mean?

Results are typically reported as 'Present' (mutation detected) or 'Absent' (mutation not detected). If the mutation is present, it may indicate that standard tyrosine kinase inhibitor (TKI) therapies like imatinib may not work as well. Your doctor will use this information, along with other test results and your overall health, to determine the best treatment plan. A negative result suggests that standard treatments may be more likely to be effective.

Are there any risks?

The risks associated with blood collection are minimal and may include slight pain, bruising, or bleeding at the needle site. Bone marrow collection may cause temporary discomfort or bruising at the collection site. These procedures are generally safe and are performed by experienced healthcare professionals.