0037U Targeted genomic sequence analysis, solid organ neoplasm, DNA analysis of 324 genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, microsatellite instability and tumor mutational burden

Name of the Procedure:

Targeted Genomic Sequence Analysis for Solid Organ Neoplasm (DNA Analysis of 324 Genes)

Summary

This procedure involves analyzing a solid organ tumor's DNA to look at 324 specific genes. It checks for DNA sequence changes, gene copy number amplifications, gene rearrangements, microsatellite instability, and the tumor mutational burden to help understand the cancer's characteristics.

Purpose

This test is primarily used for identifying specific genetic mutations and changes within a tumor. The goals are to guide treatment decisions, personalize therapy, predict responses to certain medications, and provide a prognosis for the cancer.

Indications

• Diagnosed solid organ tumors
• Uncertain tumor behavior or mismatched standard treatment responses
• Patients who may benefit from targeted therapies or clinical trials
• Unexplained cancer recurrence

Preparation

• No special preparation like fasting is typically required.
• Ensure relevant medical history and previous diagnostic tests, like biopsies, are available for review.

Procedure Description

1. A sample of the tumor tissue is collected, often through a biopsy if not previously done.
2. DNA extraction from the tumor sample is performed in a specialized lab.
3. The DNA is then subjected to high-throughput sequencing techniques to analyze 324 genes.
4. The data is carefully interpreted by a team of molecular pathologists and geneticists.
5. A detailed report is generated outlining identified genetic alterations, their significance, and potential treatment implications.

Duration

The actual sequencing process takes several days to complete, with results typically available within 2-4 weeks.

Setting

The tumor biopsy can be done in an outpatient clinic or hospital. The DNA analysis occurs in specialized diagnostic laboratories.

Personnel

• Oncologists
• Pathologists
• Geneticists
• Laboratory technicians

Risks and Complications

• Minimal risks are associated with the biopsy procedure, such as infection or bleeding.
• Rare technical issues with DNA sequencing may require reanalysis.

Benefits

• Precise identification of genetic mutations to tailor cancer treatment.
• Potential identification of effective targeted therapies.
• Improved prognosis and treatment planning.

Recovery

• Post-biopsy, patients might experience mild discomfort.
• Follow standard biopsy care guidelines such as keeping the site clean and adhering to any specific instructions given by the healthcare provider.
• No recovery is needed for the DNA analysis itself.

Alternatives

• Comprehensive genomic profiling tests
• Single-gene mutation tests
• Broad molecular diagnostic tests
• Each alternative varies in coverage and specificity, with pros and cons discussed based on individual cases.

Patient Experience

During the biopsy, patients may feel pressure or discomfort with local anesthesia used to minimize pain. Post-procedure, some mild discomfort or soreness at the biopsy site is common. The DNA analysis itself does not cause any physical symptoms as it is performed on a tissue sample rather than directly on the patient.