HomeLab TestsBCR-ABL1 Genetic Test
Back to Lab Tests
BCR-ABL1 Genetic Test
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Lab Tests

BCR-ABL1 Genetic Test

The BCR-ABL1 genetic test identifies an abnormal fusion gene associated with specific types of leukemia, aiding in diagnosis, treatment planning, and monitoring.

Overview

The BCR-ABL1 genetic test detects an abnormal gene formed when pieces of chromosomes 9 and 22 break off and swap places. The resulting fusion gene, BCR-ABL1, is located on a changed chromosome 22 known as the Philadelphia chromosome. This mutation causes bone marrow to produce excessive, abnormal white blood cells that crowd out healthy cells. This is an acquired genetic change, meaning it is not inherited and cannot be passed to children.

Uses

This test is primarily used to diagnose or rule out:

  • Chronic myeloid leukemia (CML)
  • Philadelphia-positive acute lymphoblastic leukemia (Ph+ ALL)

It is also used to guide treatment decisions—such as selecting targeted therapies that affect the abnormal protein—and to monitor how well treatment is working or if the cancer is returning.

Why It Is Performed

Testing may be ordered if a patient shows symptoms of leukemia, such as fatigue, fever, weight loss, night sweats, bone pain, or enlarged lymph nodes. For those already diagnosed, the test is used to track the effectiveness of therapy by measuring the levels of the BCR-ABL1 gene.

The Procedure

The test requires a sample of blood or bone marrow:

  • Blood test: A standard venous blood draw.
  • Bone marrow test: Involves an aspiration (removing fluid) and a biopsy (removing a small piece of tissue), usually from the back of the hip bone under local anesthesia.

Results

A diagnosis of CML or Ph+ ALL is typically confirmed if tests show abnormal white blood cells, the presence of the BCR-ABL1 gene, and the Philadelphia chromosome. During treatment, results are compared over time: a decrease in BCR-ABL1 levels generally indicates that treatment is working, while an increase may suggest the treatment is ineffective or the cancer is returning. Because different labs use different methods, it is recommended to have follow-up tests performed at the same laboratory to ensure accurate comparison.

Frequently Asked Questions

The test can be performed on a standard venous blood draw or on a bone marrow sample. For a blood test, a healthcare professional will draw blood from a vein in your arm using a needle and syringe. If a bone marrow sample is required, a small needle is inserted into the back of the hip bone under local anesthesia to aspirate marrow fluid and to take a core biopsy.
Guidelines recommend monitoring BCR‑ABL1 transcript levels every 3 to 6 months during the first two years of treatment, then every 6 to 12 months once stable remission is achieved. The exact schedule may vary based on your response and the treating physician’s protocol.
No. The BCR‑ABL1 fusion is an acquired mutation that occurs in the bone marrow cells during adulthood. It is not inherited from parents and cannot be transmitted to offspring.===
positive result confirms the presence of the Philadelphia chromosome and the BCR‑ABL1 fusion gene, which drives the leukemia. This finding directs the use of tyrosine‑kinase inhibitors (such as imatinib, dasatinib, or nilotinib) as first‑line therapy and allows the clinician to monitor disease burden by measuring BCR‑ABL1 transcript levels during treatment.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss