Name of the Procedure:

PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) gene analysis, targeted sequence analysis (e.g., exons 12, 18)

Summary

This is a genetic test that specifically looks at certain sections (exons 12 and 18) of the PDGFRA gene to identify mutations. It is commonly used to diagnose and tailor treatment for gastrointestinal stromal tumors (GIST).

Purpose

The purpose of this test is to detect gene alterations in the PDGFRA gene that are associated with gastrointestinal stromal tumors. Identifying these mutations helps doctors determine the most effective treatment options and predict the likely course of the disease.

Indications

• Presence of a gastrointestinal stromal tumor (GIST)
• Symptoms such as abdominal pain, gastrointestinal bleeding, or palpable mass
• Patients diagnosed with GIST requiring targeted therapy options

Preparation

• No specific preparation such as fasting is usually required.
• blood sample or tissue biopsy may be taken for analysis.
• Inform your healthcare provider about any medications or supplements you are taking.

Procedure Description

1. A sample is collected from either blood or tumor tissue.
2. The sample is processed in a laboratory.
3. DNA is extracted from the cells in the sample.
4. Targeted sequencing of exons 12 and 18 of the PDGFRA gene is performed to detect any mutations.
5. The sequencing data is analyzed, and a report is generated.

Duration

The sample collection process is brief, typically taking 10-30 minutes. Laboratory analysis may take several days to a few weeks.

Setting

• Sample collection can be performed in a hospital, outpatient clinic, or specialized diagnostic lab.
• Genetic sequencing and analysis are conducted in a certified laboratory.

Personnel

• The sample is typically collected by a nurse or phlebotomist.
• Laboratory geneticists and molecular pathologists carry out the analysis.

Risks and Complications

• Sample collection can cause minor discomfort or bruising at the site of collection.
• Rarely, there might be adverse reactions to biopsy procedures if tissue samples are needed.

Benefits

• Helps in accurate diagnosis and personalized treatment plans for GIST.
• Assists in predicting the likely response to certain targeted therapies, improving treatment efficacy.

Recovery

• No recovery time is required for blood sample collection.
• Follow-up instructions will be provided if a tissue biopsy was performed.
• Normal activities can typically be resumed immediately after sample collection.

Alternatives

• Other genetic tests such as KIT gene analysis can also be used to identify mutations in GIST.
• Imaging studies and histopathological examination of the tumor.
• Pros: Less invasive options like blood tests. Cons: May not be as comprehensive for specific mutations.

Patient Experience

• Minor discomfort from needle insertion during blood draw or biopsy.
• Most patients experience minimal discomfort and can return to normal activities promptly.
• Anxiety related to waiting for genetic test results can be managed with support from healthcare providers.

Pain management and comfort measures include local anesthesia for biopsies and supportive care for managing anxiety and discomfort post-procedure.