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Alpha-1 Antitrypsin (A1AT) Mutation Analysis – Serum

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

This test checks for genetic mutations in your Alpha-1 Antitrypsin protein, which can affect how well your lungs or liver function over time.

Quick summary

["Helps identify risks for lung diseases or liver problems linked to genetic variants in A1AT."]

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

Key facts at a glance

LOINC
91680-9
Short code
F8 intron 22 Inv Mut Anl Amn/CVS
Synonyms
F8 intron 22 Inv Mut Anl Amn/CVS
Category
chemistry
Sample
fluid
Container
Sterile tube
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
2-5 mL
Stability
Room temperature: 2h, Refrigerated: 24h
Hemolysis max
300
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your doctor may recommend this test if you have a family history of chronic obstructive pulmonary disease (COPD), emphysema, or liver disease, or if symptoms like persistent coughing, wheezing, or unexplained fatigue appear early in life.

What to Expect During the Test

A simple blood draw is used to collect serum. The sample is then analyzed to detect specific mutations in the A1AT gene. Results help determine if you carry a genetic variant that may increase your risk for health issues.

How the Results Are Used

Results may guide decisions about monitoring, lifestyle adjustments, or potential treatments to manage symptoms or prevent complications related to A1AT deficiency.

Common Conditions Linked to A1AT Mutations

Genetic mutations in A1AT can lead to conditions like Alpha-1 Deficiency, which may cause lung diseases (e.g., emphysema) or liver diseases (e.g., cirrhosis). Early detection can help manage risks.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

A1AT Mutation Test

Frequently asked questions

What does a positive or negative result mean?
A positive result indicates the presence of specific mutations in your A1AT gene. This may mean you are at higher risk for lung or liver diseases, depending on the type of mutation. Your doctor will discuss next steps, such as monitoring or lifestyle recommendations.
How often should I get this test?
If you have a family history or symptoms, your doctor may recommend this test once or periodically. Follow-up testing may be needed if mutations are detected to assess risk or progression over time.
Can lifestyle changes help if I have an A1AT mutation?
Yes, lifestyle modifications like quitting smoking, maintaining a healthy weight, and avoiding lung irritants can help reduce risks. Your doctor may also recommend monitoring lung or liver function regularly.
  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