Name of the Procedure:

FLT3 (fms-related tyrosine kinase 3) Gene Analysis; Tyrosine Kinase Domain (TKD) Variants (e.g., D835, I836)

Summary

This gene analysis test checks for specific mutations in the FLT3 gene, particularly in the tyrosine kinase domain (TKD), which are often found in cases of acute myeloid leukemia (AML). The test identifies variants like D835 and I836 that can influence the course of the disease and guide treatment decisions.

Purpose

The FLT3 gene analysis identifies mutations in patients with acute myeloid leukemia (AML) to help determine prognosis and guide targeted therapies. The presence of these mutations can indicate a more aggressive form of the disease requiring specific treatment strategies.

Indications

• Diagnosed or suspected acute myeloid leukemia (AML)
• Patients with AML showing poor response to standard treatments
• Need for tailored drug therapies based on genetic makeup

Preparation

• No special preparation such as fasting required.
• Inform the healthcare provider of current medications and medical history.
• Blood sample or bone marrow sample will be required.

Procedure Description

1. A blood or bone marrow sample is collected from the patient.
2. The sample is sent to a lab where DNA is extracted.
3. Using molecular techniques, the lab analyzes the DNA for mutations in the tyrosine kinase domain of the FLT3 gene.
4. Results are reviewed to identify specific variants, like D835 and I836.

Duration

The actual sample collection takes about 10-15 minutes. Analysis and results may take several days to a few weeks, depending on the lab’s processing time.

Setting

The sample collection typically occurs in a hospital, outpatient clinic, or specialized laboratory.

Personnel

• Hematologist or oncologist
• Laboratory technicians specialized in genetic testing
• Nurses or phlebotomists for sample collection

Risks and Complications

• Minor discomfort or bruising at the sample collection site
• Rare risk of infection at the sample collection site

Benefits

• Provides critical information about the genetic makeup of AML.
• Helps in making informed treatment decisions.
• Can lead to targeted and more effective treatment strategies, improving prognosis.

Recovery

• Minimal recovery time is required post-sample collection.
• Patients can resume normal activities immediately after the procedure.
• Follow-up with the healthcare provider to discuss the test results.

Alternatives

• Standard blood tests and bone marrow biopsy without genetic analysis.
• Whole genome sequencing for a broader analysis but not specifically focused on FLT3 mutations.
• Pros: Broader diagnostic scope; Cons: Longer processing time, more expensive, less targeted.

Patient Experience

• Patients might feel a prick or slight pain during blood or bone marrow sample collection.
• Discomfort is minimal and short-lived.
• Anxiety might be present while waiting for results; emotional support and counseling may be provided.