The diagnosis of alpha-1 antitrypsin deficiency is made by testing the levels of alpha-1- antitrypsin in blood. If they are abnormally low, the next step is to identify the exact alpha-1-antitrypsin protein variants the person carries. Abnormal forms of the alpha-1-antitrypsin protein can be detected using dried blood as a sample for gel electrophoresis. Other tests such as urine collection, ultrasound examination, or tests using specialized X-ray techniques may be necessary. A biopsy of the liver (sampling liver tissue with a needle or by operation) is usually performed to look for liver injury. Relatives who are carriers but do not have the disease can also be diagnosed by blood tests.
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