Name of the Procedure:

BCR/ABL1 (t(9;22)) Translocation Analysis; Major Breakpoint, Qualitative or Quantitative

Summary

This test checks for a specific genetic change, known as the BCR/ABL1 translocation, commonly associated with chronic myelogenous leukemia (CML). It can determine the presence (qualitative) or amount (quantitative) of the genetic abnormality.

Purpose

The BCR/ABL1 translocation analysis is used to diagnose certain types of leukemia, particularly chronic myelogenous leukemia (CML). The goal is to detect the genetic abnormality associated with the disease, which can guide treatment decisions and monitor disease progression or response to therapy.

Indications

• Suspected chronic myelogenous leukemia (CML) or other related leukemias.
• Monitoring response to leukemia treatment.
• Evaluating for relapse in patients previously diagnosed with CML.

Preparation

• No special preparation is typically needed.
• Follow any specific instructions provided by your healthcare provider.
• Inform your doctor about any medications or supplements you are taking.

Procedure Description

1. Sample Collection: A blood sample or bone marrow sample is collected.
2. Laboratory Analysis: The sample is analyzed in a lab using specialized techniques to detect the BCR/ABL1 gene translocation.
3. Results Interpretation: The presence and amount of the translocation are measured and reported.

Duration

• The sample collection itself takes just a few minutes.
• Laboratory analysis may take several days to a week, depending on the lab's capacity.

Setting

• Sample collection can be performed in a doctor's office, hospital, or outpatient clinic.
• Laboratory analysis is conducted in a specialized lab.

Personnel

• Sample collection is typically performed by a nurse or phlebotomist.
• Laboratory analysis is done by medical laboratory technicians or technologists with expertise in genetic testing.

Risks and Complications

• Minor discomfort or bruising at the sample collection site.
• Rare risk of infection or prolonged bleeding at the site of bone marrow aspiration.

Benefits

• Accurate diagnosis of CML or related leukemias.
• Helps guide effective treatment plans.
• Monitors disease progression or response to treatment, aiding in better management of the condition.

Recovery

• No specific recovery needed for blood sample collection.
• For bone marrow aspiration, follow your healthcare provider's instructions for post-procedure care.

Alternatives

• Other genetic tests or cytogenetic analysis (e.g., karyotyping, FISH).
• Bone marrow biopsy without specific translocation analysis.
• Each alternative has different sensitivities, specificities, and potential for guiding treatment decisions.

Patient Experience

• Sample collection involves a minor needle stick, which may cause brief discomfort.
• Bone marrow aspiration can cause more significant discomfort or pressure.
• Pain management strategies or local anesthesia are available to minimize discomfort during bone marrow aspiration. Post-procedure soreness is typically mild and short-lived.