Alpha-1 Antitrypsin test

Alpha-1 Antitrypsin test - A1At; types, and results interpretations

Alpha-1 Antitrypsin test, also named A1At test, and AAT test. what is this test and what are its types, and its results interpretations?

Alpha-1 Antitrypsin test called — A1At test is a laboratory test that determines the quantitative amount of AAT in your blood. The test is also used to identify abnormal forms of AAT.

Alpha-1 Antitrypsin test overview

The alpha-1-Antitrypsin test (AAT)  measures the concentration of alpha-1 antitrypsin in the bloodstream.

AAT is a protein produced in the liver. It aids in the prevention of lung damage and conditions such as emphysema and acute or chronic obstructive pulmonary disease (COPD).

Certain genes in your body produce AAT. Genes are the fundamental hereditary units passed down from your parents. They contain information that determines your individual characteristics, such as height and eye color.

Everyone receives two copies of the AAT-producing gene, one from their father and one from their mother. If one or both copies of this gene have a mutation (change), your body will produce less Alpha-1-Antitrypsin or AAT, which does not function properly.

An AAT  can help in early diagnosis if you have a genetic mutation that makes you susceptible to disease.

  • If you have two mutated copies of the genotype, you are suffering from AAT deficiency. People with this disorder are more likely to develop lung disease or liver damage before the age of 45.
  • If you have just one mutated Alpha-1-Antitrypsin gene, you may have lower than normal A1AT levels but no or mild disease symptoms. AAT deficiency is carried by people who have one mutated gene. This means you don’t have the condition, but could be passed down to your children.

Brief Description of AAt Test

Other names Alpha 1 Antitrypsin, AAT Genotyping, AATD Test, Anti-Alpha-1-Trypsin, Prolastin, A1A, AAT (Alpha-1 Antitrypsin), Alpha-1-Antitrypsin Reflex, and AAT
purpose Detect a deficiency of the AAT protein
preparation There is no special preparation required
Specimen Feces and Serum
Reference range Fecal alpha-1-antitrypsin concentration: < or = 54 mg/dL
Serum alpha-1-antitrypsin concentration: 100 – 190 mg/dL
Methodology Quantitative Enzyme-Linked Immunosorbent Assay

Types of A1AT tests

  1. Alpha-1 Antitrypsin (A1AT) blood level test: determines whether or not the amount of AAT protein found in a blood sample is abnormal.
  2. Alpha-1 Antitrypsin phenotyping: detects abnormal forms of the A1AT protein in the blood. Isoelectric focusing is a technical term for this type of testing.
  3. Alpha-1 Antitrypsin genotyping: helps to detect your DNA for specific genetic changes linked to AAT deficiency. AAT genotype can be performed using a blood sample or a swab from the inside of your cheek.
  4. DNA sequencing: This type of testing provides a more complete picture of the section of your DNA that codes for the alpha-1-antitrypsin protein. DNA testing may be measured as a follow-up to an alpha-1 antitrypsin level and phenotype.

purpose of Alpha-1 antitrypsin test

Alpha-1 antitrypsin testing is used to look for signs of an AAT deficiency in individuals who develop unexplained lung diseases at a young age (45 years or younger) and do not have other risk factors such as smoking.

It was also tested to assist in the identification of the cause of early-onset emphysema and/or liver disease.

Due to inherited alpha-1-antitrypsin deficiency, alpha-1 antitrypsin testing is requested for some family members of people with the condition, even if they have no symptoms.

Testing for AAT deficiency may influence treatment for lung problems in some cases. Also, α1-antitrypsin could also be used to diagnose a rare type of liver disease in infants.


Who may need to do A1AT test?

It may be recommended for you If you are under the age of 45, do not smoke, and have symptoms of lung disease as the following:

  • persistent cough
  • Wheezing
  • Breathing difficulty
  • When you stand up, your heartbeat becomes faster than usual
  • Problems with vision
  • Asthma that is resistant to treatment

α1-antitrypsin may also be ordered if you have a family history of AAT deficiency.

In babies, AAT deficiency frequently affects the liver. If your baby’s doctor notices signs of liver disease, he may require an AAT test. These are some examples:

  • Jaundice

Jaundice is defined as a yellowing of the skin and eyes that lasts more than a week or two.

  • splenic enlargement
  • Itching that occurs frequently

What happens during an AAT test?

A small needle will be used by a medical professional to draw blood from a vein in your arm. A small amount of blood will be collected into a test tube or vial after the needle is inserted. When the needle is inserted or removed, you may feel a slight sting. This normally takes less than five minutes.

preparation for the test

AAT tests usually do not necessitate any special preparation. Check with your health provider to see if there are any pre-test instructions you should follow.
If you have an AAT test that involves a cheek swab, you may be asked to rinse your mouth before the test.

alpha-1 antitrypsin results

The interpretation of A1AT test results varies greatly depending on the test performance and the methods used by the laboratory to analyze your sample.
AAT blood levels can be measured in a variety of ways and reported in (mg/dl) or  (M/L) of blood. When reviewing your test results, it is critical to pay close attention to the unit of measurement.

If you have alpha-1 antitrypsin at low levels, it is likely that you have one or two mutated A1AT genes. The lower your level, the more likely you have two mutated genes as well as AAT deficiency.

If you have AAT deficiency, you can take precautions to lower your risk of disease. Among them are:

  • If you smoke, stop. Don’t start if you don’t smoke. Smoking is the leading risk factor for A1AT deficiency-related lung disease.
  • Eating a nutritious diet
  • Regular exercise
  • Regular visits to your doctor
  • Take medications as directed by your healthcare provider.

A counselor allows you to understand the risks and benefits of testing, and provide information on the condition, including your risk of passing the disease on to your children.

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