Skip to content

Genetic Mutation Analysis of Alpha-1 Antitrypsin (A1AT) via Whole Blood

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

This test checks for genetic changes in the Alpha-1 Antitrypsin (A1AT) gene, which may affect how your body produces this protein. A1AT is important for protecting your lungs and liver from damage.

Quick summary

["This test helps identify if you carry mutations linked to lung or liver disease."]

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

Key facts at a glance

LOINC
21684-6
Short code
Gau3 gene Mut Tested Bld/T
Synonyms
Gau3 gene Mut Tested 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 lung diseases (like chronic obstructive pulmonary disease, or COPD) or liver problems, or if you have symptoms such as persistent coughing, shortness of breath, or unexplained liver issues.

What to Expect Before the Test

No special preparation is needed. You’ll provide a small sample of whole blood drawn from your arm, similar to a regular blood test. The sample is then sent to a lab for genetic analysis.

What the Results Mean

Results can show whether you have normal gene copies, one mutated copy, or two mutated copies of the A1AT gene. Different mutations may affect your risk differently, and your doctor will discuss the results with you based on your medical history and symptoms.

Common Conditions Linked to A1AT Mutations

Mutations in the A1AT gene can lead to Alpha-1 Antitrypsin Deficiency, a condition that may cause lung diseases (like emphysema) or liver disease. Early detection can help guide treatment and management strategies.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

A1AT Gene Mutation Test

Frequently asked questions

How often will I need this test?
The frequency depends on your risk factors. If you have a family history of A1AT deficiency, your doctor may recommend testing as part of a screening process, possibly every few years or as needed based on symptoms.
What are the typical symptoms of A1AT deficiency?
Symptoms may include persistent coughing, shortness of breath, especially with exertion, chronic bronchitis, or liver-related issues like jaundice or unexplained fatigue. Some people may not have symptoms until adulthood.
Can lifestyle changes help manage A1AT deficiency?
Yes, lifestyle changes such as quitting smoking, maintaining a healthy weight, and following a diet rich in fruits and vegetables can help manage symptoms and slow disease progression. Your doctor may also recommend monitoring lung and 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