Name of the Procedure:

Alpha-1 Antitrypsin Phenotype Test

Summary

The Alpha-1 Antitrypsin (AAT) Phenotype Test is a blood test that checks for variations in the AAT protein, which helps protect the lungs from damage. It involves drawing a blood sample for laboratory analysis to determine the specific type (phenotype) of AAT a person has.

Purpose

The AAT Phenotype Test is used to:

• Diagnose Alpha-1 Antitrypsin Deficiency, a genetic disorder that can lead to lung and liver disease.
• Determine the type and severity of the deficiency to guide treatment decisions.

Indications

• Chronic obstructive pulmonary disease (COPD) with unexplained causes.
• Unexplained liver disease in adults or children.
• Family history of Alpha-1 Antitrypsin Deficiency.
• Early onset emphysema (before age 45).

Preparation

No special preparation is needed for the test. You can eat and drink normally and continue taking any prescribed medications. It's important to inform your healthcare provider of any medications or supplements you are taking.

Procedure Description

1. A healthcare provider will clean the injection site on your arm with an antiseptic solution.
2. A tourniquet will be applied to your arm to make veins more visible and easier to access.
3. A needle will be inserted into a vein, and a blood sample will be drawn into a vial or syringe.
4. The sample is sent to a laboratory where it is analyzed to determine your AAT phenotype.

Duration

The blood draw itself takes about 5 to 10 minutes. Results from the laboratory may take several days to a few weeks.

Setting

The blood sample is typically collected in a doctor's office, clinic, or laboratory.

Personnel

• Phlebotomist or nurse to draw the blood.
• Laboratory technician to analyze the blood sample.
• Doctor or genetic counselor to interpret the results.

Risks and Complications

• Minor discomfort or bruising at the injection site.
• Rare risk of infection at the injection site.

Benefits

• Identifies AAT deficiency, allowing for early intervention and management.
• Helps guide treatment decisions and lifestyle modifications to prevent complications.
• Informs patients about genetic risks to family members.

Recovery

• No significant recovery needed.
• Patients may return to normal activities immediately after the blood draw.
• Follow-up with your healthcare provider once results are available.

Alternatives

• Genetic testing is another option to identify AAT deficiency mutations.
• Pulmonary function tests and liver function tests can help assess the extent of damage but do not diagnose AAT deficiency.

Patient Experience

• You may feel a brief pinch during the needle insertion.
• Mild bruising or soreness at the puncture site may occur but usually resolves quickly.
• The test is generally well-tolerated, with minimal pain or discomfort.