Name of the Procedure:

Alpha-1-Antitrypsin Deficiency Gene Analysis (SERPINA1)
Common Variants: *S and *Z Alleles

Summary

This is a genetic test used to identify common variants in the SERPINA1 gene, which can cause alpha-1-antitrypsin deficiency (AATD). AATD is a hereditary condition that can lead to lung disease and liver disease.

Purpose

The test is designed to diagnose alpha-1-antitrypsin deficiency, a genetic disorder that can result in severe lung disease (such as COPD) or liver disease. The goal is to identify individuals who carry the common *S and *Z variants of the SERPINA1 gene to facilitate early intervention and management.

Indications

• Family history of alpha-1-antitrypsin deficiency
• Early-onset lung disease, especially if under 45 years old
• Unexplained liver disease
• Chronic obstructive pulmonary disease (COPD) symptoms without a known cause
• Persistent shortness of breath, wheezing, chronic cough, or chronic bronchitis

Preparation

• No specific preparation is generally required.
• A simple blood test or a cheek swab is usually sufficient.
• Patients may be advised to provide a detailed family medical history.

Procedure Description

1. Sample Collection: A blood sample is drawn from a vein, or a cheek swab is taken to collect cells for DNA analysis.
2. Laboratory Analysis: The sample is sent to a specialized genetic laboratory where DNA extraction and analysis are performed.
3. Variant Identification: The laboratory tests for common *S and *Z alleles in the SERPINA1 gene.
4. Results Reporting: The results are interpreted and reported back to the physician and patient.

Duration

• The sample collection typically takes about 5-10 minutes.
• Laboratory analysis and results reporting may take from a few days to a few weeks.

Setting

The sample collection can be done in a doctor's office, outpatient clinic, or laboratory.

Personnel

• Blood sample or cheek swab collection is usually performed by a nurse or phlebotomist.
• Genetic analysis is conducted by trained laboratory technicians and geneticists.
• Results are interpreted by a genetic counselor or physician.

Risks and Complications

• Risks are minimal and may include minor discomfort or bruising at the blood draw site.
• Rarely, there may be anxiety or distress from receiving genetic test results.

Benefits

• Early diagnosis and intervention can lead to better management of symptoms and prevention of complications.
• Allows for the monitoring and treatment of lung and liver disease before significant damage occurs.
• Facilitates informed family planning and testing of at-risk relatives.

Recovery

• No recovery time is needed as it is a non-invasive procedure.
• Patients can return to normal activities immediately after sample collection.

Alternatives

• Serum alpha-1-antitrypsin levels can be measured as an indirect test.
• Detailed pulmonary or liver function tests may provide additional information.
• Imaging studies like chest X-rays or CT scans can assess the extent of lung damage, but they do not identify the specific genetic cause.

Patient Experience

• The patient might experience minor discomfort during the blood draw.
• There is generally no pain with a cheek swab.
• The emotional response to genetic testing results can vary, and genetic counseling can help in understanding and managing these results effectively.