The genetic test can be done with a blood sample or a swab from inside your mouth. You may consider getting a genetic test before getting a blood test to look for the amount of AAT protein you have. ![]() Serum protein electrophoresis with thin-layer isoelectric focusing. Tests on a blood sample to look for the AAT protein. Your healthcare provider may do a series of tests on the serum in your blood to find the damaged genes. A procedure that involves taking a tiny sample of your liver to look for disease. A test that uses sound waves to find evidence of liver damage. A series of blood tests to see how well your liver works.Ībdominal ultrasound. More detailed X-rays of your lungs and tests to measure any lung and liver damage. HRCT (high-resolution CT) and densitometry. A series of tests to see how well your lungs work. Your healthcare provider may recommend other tests to rule out other conditions: What other tests might I have along with this test? This abnormal alpha-1 anti-trypsin gets stuck in the cells of the liver, where it accumulates, disturbs cell. In this condition, the liver produces abnormal alpha-1 antitrypsin with molecules that are a different shape. Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Contact a health professional who specializes in advising patients about genetic diseases. Alpha-1 antitrypsin deficiency is an inherited condition occurring in approximately one in 1,200 to 2,000 live births. For family testing, alpha-1-protein-level testing alone is not recommended because it does not fully characterize the risk of disease from Alpha-1 For family testing or diagnostic testing of people who have symptoms, genotyping is recommended for at least the S and Z alleles. ![]() For this reason, some groups, including the nonprofit Alpha-1 Foundation, advise talking with a genetic counselor before getting a medical test that will stay in your health records. This makes it more likely that you will develop serious lung or liver problems.Īlthough it's helpful to know whether you have this genetic disorder, a positive test result may affect your mental health and your health insurance (although laws were passed to protect against discrimination for health insurance based on having a genetic condition). If you have AAT deficiency, you have two damaged copies of this gene. The test finds out whether you have normal or damaged copies of a gene that makes this protein. These health problems may show up much earlier than they normally would.ĪAT is a protein made in the liver that helps your lungs work normally. The disorder can cause liver and lung diseases. This disorder is linked to abnormally low levels or a lack of alpha-1 antitrypsin (AAT) protein in the blood. ![]() It helps find out if you have a genetic disorder called alpha-1 antitrypsin deficiency.
0 Comments
Leave a Reply. |