Name of the Procedure:

FLT3 (fms-related tyrosine kinase 3) Gene Analysis; Internal Tandem Duplication (ITD) Variants (Exons 14, 15)

Summary

FLT3 gene analysis is a diagnostic test used to detect mutations, specifically internal tandem duplication (ITD) variants in exons 14 and 15 of the FLT3 gene. This test is often performed for individuals diagnosed with acute myeloid leukemia (AML).

Purpose

The procedure aims to identify specific genetic mutations in the FLT3 gene that can influence the prognosis and treatment plan for patients with AML. Detecting these mutations helps tailor therapy and predict disease progression.

Indications

• Diagnosed or suspected acute myeloid leukemia (AML)
• Rapid or unexplained progression of leukemia symptoms
• Poor response to initial leukemia treatments
• High white blood cell counts not attributable to other conditions

Preparation

• No specific preparation is usually required, but patients may be advised to:
  • Avoid certain medications that could interfere with test results.
  • Undergo a preliminary blood test or bone marrow biopsy to collect a sample for analysis.

Procedure Description

1. Sample Collection: Blood is drawn or a bone marrow biopsy is performed to obtain a tissue sample.
2. DNA Extraction: DNA is extracted from the collected cells.
3. PCR Amplification: Specific regions of the FLT3 gene (exons 14 and 15) are amplified using polymerase chain reaction (PCR).
4. Mutation Detection: The PCR products are analyzed to detect the presence of ITD variants in the FLT3 gene.

Duration

The entire process, from sample collection to results, typically takes about 1-2 weeks.

Setting

The procedure is performed in a specialized laboratory, often associated with a hospital or cancer treatment center.

Personnel

• Pathologists or laboratory technicians who specialize in genetic testing.
• Hematologists or oncologists who will interpret the results and discuss them with the patient.

Risks and Complications

• Minimal risk from blood draw or bone marrow biopsy, including bruising or infection.
• Rare risk of false positives or negatives, leading to misinterpretation or need for repeat testing.

Benefits

• Precise detection of FLT3 mutations helps determine the most effective treatment plan.
• Improved prognosis by identifying high-risk patients who may benefit from targeted therapies or clinical trials.

Recovery

• Patients can generally resume normal activities immediately after blood draw.
• Minor discomfort or bruising at the biopsy site, if performed, usually resolves in a few days.

Alternatives

• Other genetic tests to analyze different mutations in AML.
• Conventional cytogenetic analysis or next-generation sequencing for comprehensive genetic profiling.
• Flow cytometry to assess cell markers indicative of leukemia subtypes.

Patient Experience

• Mild discomfort during blood draw or bone marrow biopsy.
• Waiting period for results, which may cause anxiety.
• Follow-up discussions with healthcare providers to explain the implications of test findings.