Name of the Procedure:

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

Summary

This test analyzes the genetic material in your blood or bone marrow to detect and measure the BCR/ABL1 gene fusion. This gene fusion, also known as the Philadelphia chromosome, is commonly associated with chronic myelogenous leukemia (CML) and other types of leukemia.

Purpose

The primary purpose of this procedure is to diagnose chronic myelogenous leukemia (CML) or other leukemias that involve the BCR/ABL1 translocation. The goals are to detect the presence of the Philadelphia chromosome, determine the amount of gene fusion present, and help guide treatment decisions.

Indications

• Unexplained high white blood cell counts
• Symptoms suggestive of leukemia (e.g., fatigue, weight loss, fever, night sweats)
• Monitoring patients with a known diagnosis of CML for disease progression or response to treatment
• Evaluating patients with other hematologic disorders for the presence of BCR/ABL1 translocation

Preparation

• No fasting or specific dietary restrictions required
• Ensure regular medications are taken unless otherwise advised by your physician
• Inform your doctor of any medications, supplements, or recent illnesses

Procedure Description

1. Sample Collection: Blood or bone marrow sample is collected, typically through a standard blood draw or bone marrow aspiration.
2. Laboratory Analysis: The sample is submitted to a specialized laboratory where a Polymerase Chain Reaction (PCR) test is conducted to detect and quantify the BCR/ABL1 fusion gene.
3. Results Reporting: The results are either qualitative (presence or absence of the gene fusion) or quantitative (measuring the amount of gene fusion present).

Duration

The sample collection itself typically takes approximately 15-30 minutes. Laboratory analysis may take a few days to a week.

Setting

The sample collection is usually performed in an outpatient clinic, laboratory, or hospital setting.

Personnel

• Phlebotomist or nurse for blood sample collection
• Hematologist or oncologist for bone marrow aspiration
• Laboratory technicians or molecular pathologists for sample analysis

Risks and Complications

• Minimal risks associated with blood draw (e.g., bruising, slight pain, infection)
• Slightly higher risks for bone marrow aspiration (e.g., infection, excessive bleeding, discomfort)
• Rare complications include significant bleeding or prolonged pain at the puncture site

Benefits

• Accurate diagnosis of CML or related leukemias
• Helps monitor disease progression and treatment effectiveness
• Early detection can lead to timely treatment, improving patient outcomes
• Results can guide personalized treatment plans

Recovery

• Minimal to no recovery time required for blood draw
• If bone marrow aspiration is performed, some soreness at the puncture site may occur
• Follow your healthcare provider’s instructions and attend any scheduled follow-up appointments.

Alternatives

• Fluorescence In Situ Hybridization (FISH) test for detecting chromosome abnormalities
• Cytogenetic analysis, which examines the chromosomes of dividing cells
• Bone marrow biopsy, providing more complete information but is more invasive

Patient Experience

• During the blood draw, you may experience a quick needle stick with some minor discomfort.
• Bone marrow aspiration may cause moderate discomfort or pain, typically managed with local anesthesia.
• After the procedure, most patients can resume normal activities immediately but may experience mild soreness in the area where the sample was collected.

Pain management and comfort measures include local anesthetics for bone marrow aspiration and over-the-counter pain relief as needed post-procedure.