Name of the Procedure:

BCR/ABL1 (t(9;22)) Translocation Analysis (e.g., Chronic Myelogenous Leukemia); Other Breakpoint, Qualitative or Quantitative

Summary

The BCR/ABL1 translocation analysis is a genetic test used to identify a specific chromosomal abnormality associated with chronic myelogenous leukemia (CML). This test detects the presence of the BCR/ABL1 gene fusion, which results from an abnormality known as the Philadelphia chromosome.

Purpose

The analysis is used to:

• Diagnose chronic myelogenous leukemia (CML) and other related blood disorders.
• Monitor the effectiveness of treatment in patients with known BCR/ABL1 fusion genes.
• Provide prognostic information to help guide treatment decisions.

Indications

• Patients exhibiting symptoms of CML, such as fatigue, weight loss, and night sweats.
• Individuals with abnormal blood counts that suggest a myeloproliferative disorder.
• Patients diagnosed with CML undergoing treatment who need monitoring of disease progression or response to therapy.

Preparation

• No special preparation is generally required for the test.
• Patients should inform their healthcare provider about all medications and supplements they are taking.
• Some preliminary blood tests may be performed to assess the patient's overall health condition.

Procedure Description

• A blood or bone marrow sample is collected from the patient.
• The sample is then sent to a specialized laboratory where it undergoes genetic testing.
• Techniques like Polymerase Chain Reaction (PCR) or Fluorescence In Situ Hybridization (FISH) are used to detect and quantify the BCR/ABL1 fusion gene.
• No anesthesia or sedation is typically required for this blood test.

Duration

• Sample collection: Approximately 10-15 minutes.
• Laboratory analysis: A few days to a week, depending on the complexity of the test.

Setting

• Blood sample collection is usually done in an outpatient clinic or a hospital's pathology lab.

Personnel

• Phlebotomist or nurse for the blood sample collection.
• Laboratory technicians and molecular geneticists for sample analysis.

Risks and Complications

• Minimal risks associated with blood sample collection, such as slight bleeding, bruising, or infection at the puncture site.
• Rare laboratory errors may occur, necessitating repeat testing.

Benefits

• Accurate diagnosis and confirmation of CML.
• Ability to monitor the disease and adjust treatment as needed.
• Enhanced prognosis and personalized treatment plans.

Recovery

• Patients can resume normal activities immediately after the blood sample collection.
• No specific post-procedure care is required.

Alternatives

• Fluorescence In Situ Hybridization (FISH) Test: Another method for detecting the Philadelphia chromosome.
• Conventional cytogenetics: Chromosome analysis under a microscope.
• Each alternative has different sensitivity, specificity, and turnaround time for results.

Patient Experience

• During: Mild discomfort during blood sample collection, similar to any routine blood draw.
• After: The patient may experience minor pain or bruising at the puncture site, which typically resolves quickly.
• Pain management is generally not necessary, but over-the-counter pain relief can be used if needed.