Why Get Tested?
To help diagnose the cause of early onset emphysema and/or liver dysfunction; to establish the risk of developing alpha-1 antitrypsin deficiency-related emphysema and/or liver disease and determine the likelihood that children might inherit the risk
When to Get Tested?
When you show signs of liver disease as an infant or young child, when you develop emphysema before age 40, or when you have a close relative with alpha-1 antitrypsin deficiency
Sample Required?
A blood sample drawn from a vein in your arm
How is it used?
An alpha-1 antitrypsin level is ordered to help diagnose the cause of early onset emphysema, especially when a person does not have obvious risk factors such as smoking or exposure to lung irritants such as dust and fumes.
Alpha-1 antitrypsin is also ordered to help diagnose the cause of persistent jaundice and other signs of liver dysfunction. This is done primarily in infants and young children but may also be done in patients of any age.
Alpha-1 antitrypsin phenotype testing may be ordered if the alpha-1 antitrypsin concentration is lower than normal. It looks at the amount and type of AAT being produced and compares it to normal patterns.
DNA testing may be done as a follow-up to an alpha-1 antitrypsin level and phenotype. Once it has been established that an abnormality exists, then the DNA genetic testing can be ordered to establish which SERPINA1 gene alleles are present. This test does not test for every variant, just the most common ones - M, S, and Z, as well as any that may be common in a particular geographical area or family. Once the affected person’s SERPINA1 gene alleles have been determined, other family members may be tested to establish their own possible risk of developing emphysema and/or liver involvement as well as the likelihood that their children might inherit it.
To help diagnose the cause of early onset emphysema and/or liver dysfunction; to establish the risk of developing alpha-1 antitrypsin deficiency-related emphysema and/or liver disease and determine the likelihood that children might inherit the risk
When to Get Tested?
When you show signs of liver disease as an infant or young child, when you develop emphysema before age 40, or when you have a close relative with alpha-1 antitrypsin deficiency
Sample Required?
A blood sample drawn from a vein in your arm
How is it used?
An alpha-1 antitrypsin level is ordered to help diagnose the cause of early onset emphysema, especially when a person does not have obvious risk factors such as smoking or exposure to lung irritants such as dust and fumes.
Alpha-1 antitrypsin is also ordered to help diagnose the cause of persistent jaundice and other signs of liver dysfunction. This is done primarily in infants and young children but may also be done in patients of any age.
Alpha-1 antitrypsin phenotype testing may be ordered if the alpha-1 antitrypsin concentration is lower than normal. It looks at the amount and type of AAT being produced and compares it to normal patterns.
DNA testing may be done as a follow-up to an alpha-1 antitrypsin level and phenotype. Once it has been established that an abnormality exists, then the DNA genetic testing can be ordered to establish which SERPINA1 gene alleles are present. This test does not test for every variant, just the most common ones - M, S, and Z, as well as any that may be common in a particular geographical area or family. Once the affected person’s SERPINA1 gene alleles have been determined, other family members may be tested to establish their own possible risk of developing emphysema and/or liver involvement as well as the likelihood that their children might inherit it.
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