Genetic Mutation Analysis for Intron 1 of the INV Gene (Alpha-1 Antitrypsin Variant Screening)

Why This Test Might Be Ordered

Your doctor may recommend this test if you have a family history of Alpha-1 Antitrypsin deficiency, unexplained lung issues (like chronic bronchitis or emphysema), or liver problems. It’s also used in prenatal screening or genetic counseling for certain genetic conditions.

What to Expect Before the Test

No special preparation is needed. A blood sample will be taken from your arm, similar to other routine blood tests. The sample is processed to analyze genetic material for mutations in the specified gene region.

What the Results Mean

Results identify whether you carry specific mutations in intron 1 of the Alpha-1 Antitrypsin gene. These mutations can alter how the protein is made, potentially increasing your risk for lung or liver disease. Your doctor will discuss findings in the context of your medical history.

Common Conditions Linked to This Test

Positive findings may indicate an inherited predisposition to Alpha-1 Antitrypsin deficiency, which can cause progressive lung disease (such as emphysema) or liver disease. Early detection helps guide prevention strategies or monitoring.