Diagnostic Tests

Alpha 1 Antitrypsin Phenotyping Blood


Alpha 1 Antitrypsin Phenotyping Blood

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What is this test?

Alpha 1 Antitrypsin Phenotyping blood test is done to check for the genes associated with alpha 1 antitrypsin enzyme deficiency and to evaluate the risk of individual developing hereditary lung or liver diseases like chronic obstructive lung disease(COPD), cirrhosis, etc. This test is done on a sample of blood collected from the individual.

What is Alpha 1 Antitrypsin?

Alpha 1 antitrypsin is a protease inhibitor enzyme found in the blood plasma. The enzyme inhibits trypsin, elastin and other proteases in blood plasma from damaging the organs and tissue spaces like liver, lungs etc. Decreased concentration of this enzyme in the body can make the organs and tissues more sensitive to damage to these protease enzymes. This enzyme is also useful in detecting intestinal damage as it is resistant to digestive enzymes.

What is Alpha 1 Antitrypsin enzyme deficiency?

Alpha 1 Antitrypsin enzyme deficiency is a genetic disorder that can be inherited from the parent to the child. The individuals with this condition have a decreased amount of alpha 1 antitrypsin in the body due to which the risk of a person developing liver and lung diseases is increased. This enzyme deficiency is caused due to the mutation of the SERPINA1 gene.

Why is this test recommended?

This test is recommended by the doctor to find out any damage to the organs like the liver, lungs, intestines. The individuals suffering from organ or tissue damage can experience symptoms like malabsorption of nutrients, fatigue, flatulence. diarrhoea, gastric pain, heartburn, abdominal pain, breathing difficulty, stiffness and pain in the chest, etc.

This test is also recommended by the doctor during diseases or conditions like neonatal hepatitis, emphysema, inflammatory liver diseases, chronic obstructive lung diseases, etc.

Also known as Alpha 1 Antitrypsin Phenotyping.

Test Preparation

Inform your doctor if you are on any medications, have any allergies or underlying medical conditions before your Alpha 1 Antitrypsin Phenotyping Blood. Your doctor will give specific instructions depending on your condition on how to prepare for Alpha 1 Antitrypsin Phenotyping Blood.

No specific test preparations are required for this test.

Understanding your test results

The test results may be different depending on gender, age, health conditions, and other factors. Positive test results may indicate inherited gene mutations associated with alpha 1 antitrypsin enzyme deficiency, and the individual may have an increased risk of developing early lung diseases, cancers etc.

Negative test results indicate an absence of gene mutation associated with alpha 1 antitrypsin enzyme deficiency and further diagnostic tests may be recommended by the healthcare professional to diagnose the health condition.

GenderAge groupsValue
MALEAll age groupsSERPINA1 gene mutation, people with SS are asymptomatic, SZ have increased risk, ZZ are severely affected
FEMALEAll age groupsSERPINA1 gene mutation, people with SS are asymptomatic, SZ have increased risk, ZZ are severely affected
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