Name of the Procedure:

Hereditary Neuroendocrine Tumor Disorders Genomic Sequence Analysis Panel

Summary

This genetic test analyzes a panel of at least six genes, including MAX, SDHB, SDHC, and SDHD, to identify mutations associated with hereditary neuroendocrine tumors such as medullary thyroid carcinoma, parathyroid carcinoma, and malignant pheochromocytoma or paraganglioma.

Purpose

Determines if a patient has genetic mutations that increase the risk of developing certain types of hereditary neuroendocrine tumors. Identifying these mutations can guide treatment decisions and inform family members of their potential risks.

Indications

• Family history of neuroendocrine tumors
• Presence of symptoms suggesting neuroendocrine tumors (e.g., hormonal imbalances, masses detected on imaging)
• Previous diagnosis of a neuroendocrine tumor, necessitating assessment for hereditary factors
• Patients with syndromic features associated with these tumors

Preparation

• Pre-test genetic counseling to understand the implications of test results
• No special preparation, fasting, or medication adjustments required
• Detailed collection of medical and family history

Procedure Description

1. Blood Sample Collection:
   • A small blood sample is collected from the patient, usually from the arm.
2. DNA Extraction:
   • DNA is extracted from the blood cells.
3. Sequencing:
   • The extracted DNA undergoes sequencing to identify mutations in the specified genes (MAX, SDHB, SDHC, SDHD, etc.).
4. Data Analysis:
   • Bioinformatic tools analyze the genetic sequences to detect any mutations.
5. Report Generation:
   • A detailed report is prepared, summarizing the findings and their potential implications.

Duration

The blood sample collection takes about 10-15 minutes. The entire genomic analysis process can take several weeks to complete.

Setting

The blood sample is usually collected in an outpatient clinic or hospital setting. The sequencing and analysis are conducted in specialized genetic laboratories.

Personnel

• Phlebotomist for blood sample collection
• Geneticist or molecular biologist for sequencing and analysis
• Genetic counselor to explain the results and implications

Risks and Complications

• Minor discomfort or bruising at the blood draw site
• Psychological impact of learning about genetic risks
• Possible need for further confirmatory tests or procedures

Benefits

• Identifies specific genetic mutations linked to hereditary neuroendocrine tumors
• Provides critical information for personalized treatment plans
• Helps in risk assessment and management for family members

Recovery

• No physical recovery needed from the blood draw
• Follow-up with a genetic counselor or healthcare provider to discuss the results

Alternatives

• Surveillance and clinical evaluation without genetic testing
• Non-genetic imaging and biochemical tests to identify tumors
• Each alternative has its own pros and cons, including accuracy and ability to predict future risk

Patient Experience

• The blood draw is quick and relatively painless with minimal discomfort
• Waiting for and receiving genetic test results may cause anxiety, which can be managed with appropriate counseling and support