Name of the Procedure:

PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) translocation analysis; single breakpoint (e.g., intron 3, intron 6 or exon 6), qualitative or quantitative.

Summary

This genetic test analyzes a specific translocation between chromosomes 15 and 17 that occurs in promyelocytic leukemia (APL). The analysis can identify and measure the presence of the abnormal gene fusion created by this translocation, helping diagnose and guide treatment for APL.

Purpose

This procedure targets the identification of the unique genetic abnormality associated with acute promyelocytic leukemia (APL). By detecting the PML/RARalpha fusion gene, it helps confirm the diagnosis of APL, guides treatment decisions, and monitors response to therapy and potential relapse.

Indications

• Suspected cases of acute promyelocytic leukemia based on clinical symptoms or preliminary lab results.
• Unexplained bleeding, bruising, and fatigue which are hallmark symptoms of APL.
• Monitoring known APL patients for disease recurrence or treatment response.

Preparation

• Typically, no special preparation is required from the patient.
• Patients may be advised to continue their regular medications unless specifically instructed otherwise.
• Standard blood tests may be conducted beforehand to ensure overall health status and suitability for the test.

Procedure Description

1. A blood sample or bone marrow aspirate is collected from the patient.
2. The sample is sent to a specialized laboratory.
3. In the lab, DNA or RNA is extracted from the cells in the sample.
4. Molecular techniques, such as polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH), are used to detect and quantify the PML/RARalpha translocation.
5. Results are analyzed qualitatively (presence or absence of translocation) or quantitatively (amount of translocation present).

Duration

The sample collection takes a few minutes, while laboratory analysis can take several days to complete.

Setting

• Sample collection usually takes place in a clinic, hospital, or outpatient setting.
• Laboratory analysis is conducted in a specialized molecular diagnostics lab.

Personnel

• A phlebotomist or nurse typically collects the sample.
• Medical laboratory scientists and molecular biologists perform the genetic analysis.

Risks and Complications

• Risks are minimal and mostly related to blood or bone marrow sample collection, including temporary discomfort, bruising, or infection at the puncture site.
• Rarely, complications might include excessive bleeding or allergic reactions to antiseptics used during sample collection.

Benefits

• Accurate diagnosis of acute promyelocytic leukemia.
• Tailored treatment plan based on precise genetic data.
• Effective monitoring for treatment response and early detection of relapse.

Recovery

• No recovery time is needed from the sample collection.
• Patients can usually resume their normal activities immediately after the procedure.
• Follow-up appointments might be required to discuss results and subsequent treatment plans.

Alternatives

• Other leukemias can be investigated using different genetic or cytogenetic tests.
• Bone marrow biopsy for more comprehensive analysis.
• Flow cytometry and other molecular diagnostic tests to identify different mutations or chromosomal abnormalities.

Patient Experience

• Patients may experience slight discomfort during sample collection.
• Post-procedure, minimal to no pain is expected.
• Emotional support and clear communication about the process and its importance can alleviate patient anxiety.