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Alpha-1 Antitrypsin (A1AT) Mutation Screening in Serum

Published: August 9, 2026Updated: August 16, 2026

This test checks for genetic variations in the Alpha-1 Antitrypsin protein, which may affect your ability to produce enough of this protein. Alpha-1 Antitrypsin is important for protecting your lungs and liver from damage.

Quick summary

["This screening helps identify potential genetic risks for lung or liver diseases linked to low A1AT levels."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
81812-0
Short code
TPP1 Mut Anl Bld/T
Synonyms
TPP1 Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of conditions like chronic obstructive pulmonary disease (COPD) or cirrhosis, or if you have symptoms like persistent coughing, wheezing, or unexplained liver issues. It’s also used for prenatal screening if you or your partner carry a mutation.

What to Expect Before the Test

No special preparation is needed. You’ll provide a blood sample, usually drawn from your arm. The test involves collecting serum (liquid part of blood after clotting), which is then analyzed for genetic mutations in the A1AT gene.

How the Test Works

The test uses genetic sequencing or molecular techniques to detect specific changes (mutations) in the A1AT gene. These mutations can lead to reduced production of the protein, increasing your risk for lung or liver diseases over time.

What the Results Mean

Results may show whether you carry a mutation linked to low A1AT levels. If mutations are present, your provider will discuss next steps, which could include monitoring, lifestyle adjustments, or referral to a specialist.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

A1AT Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result indicates you have a genetic mutation in the A1AT gene, which may lower your protein levels. This can increase your risk of developing lung diseases (like emphysema) or liver diseases (like cirrhosis) later in life. Your provider will help you understand your risk and next steps.
How often should I get this test?
If you have a known mutation, your provider may recommend monitoring every few years or more frequently, depending on your symptoms and family history. Regular check-ups with a specialist (like a pulmonologist or hepatologist) can help manage your risk.
Can lifestyle changes help if I have a mutation?
Yes! Quitting smoking, maintaining a healthy weight, and following a balanced diet can help reduce your risk of complications. Some people with mutations may also benefit from supplements or specialized treatments—always discuss options with your healthcare team.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy