Alpha1Health.com | Information about Living with Alpha-1 | Testing And Diagnosis

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Should You Be Tested?

Testing for Alpha-1* usually is recommended either because you have symptoms of Alpha-1 or because a family member has been diagnosed with Alpha-1.

*Also known as alpha-1 antitrypsin deficiency, AATD, A1-PI deficiency, alpha-1 proteinase deficiency, A1AD, or hereditary or genetic emphysema.

There are three important blood tests that might be done to determine if you have AAT deficiency:

Immunoassay

The first test – immunoassay – is a simple blood test which determines the amount of AAT protein circulating in the blood.

Phenotyping

If low levels of AAT are detected on the immunoassay, phenotyping is done. This blood test, which can confirm a diagnosis of Alpha-1, identifies the type of AAT protein present in the blood.

Genotyping

This test conclusively identifies specific genetic mutations and is the only test that can detect the null variation.


What Your Test Results Mean

The immunoassay blood test measures the amount of AAT circulating in your blood. An AAT level of more than 20 µM (or 150 mg/dL) is considered normal. An AAT level below 11µM (or 80 mg/dL) represents an AAT deficiency.

Phenotyping and genotyping tests determine the type of genetic mutation that is causing the AAT deficiency. The phenotype report includes the names of the gene variations (alleles) – either M, S, or Z – which you have inherited.

The results of these tests are important to help you and your doctor determine the best treatment plan for you. The test results also help identify preventive measures to protect your lungs. Finally, test results can help with the decision about whether family members should be tested.

Should You Be Tested?

If you have experienced health problems like those described in the Symptoms section, talk to your healthcare professional about whether you should be tested for AAT deficiency.

You should also talk to your healthcare professional about getting tested for AAT deficiency if a blood relative has been diagnosed with AAT deficiency. You could have the condition or be a carrier of the disorder.

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