Alpha-1-Antitrypsin Genotyping

What is Alpha-1 Antitrypsin Genotyping and what is it used for?

Alpha-1 Antitrypsin (A1AT) genotyping is a genetic test used to identify mutations in the SERPINA1 gene, which can cause Alpha-1 Antitrypsin Deficiency. This inherited condition can lead to chronic lung disease (like COPD or emphysema) and liver disease. The genotyping test helps confirm a diagnosis, assess disease risk in family members, and guide appropriate clinical management.


How is the test carried out?

A blood sample is collected for DNA analysis. The sample is processed using molecular techniques such as PCR and DNA sequencing to identify specific mutations in the SERPINA1 gene. Common variants include the “Z” and “S” alleles, which are associated with reduced levels or malfunctioning of the A1AT protein.


What do the results tell us?

 If a person carries one defective gene (heterozygous), they may have lower A1AT levels but often remain symptom-free. If both copies of the gene are defective (homozygous), the risk of lung and liver disease increases significantly. Knowing the genotype helps determine the likelihood of disease development and whether lifestyle changes or monitoring are necessary. Family members may also be tested to determine their carrier status.


Who should get tested for A1AT deficiency?

People with early-onset COPD, unexplained liver disease, or a family history of A1AT deficiency are often advised to undergo this test. It is also considered in individuals with recurrent lung infections or asthma that doesn't respond well to standard therapy.


Is fasting or any special preparation needed?

No fasting is required for this genetic test. You should inform your physician about your personal and family medical history for accurate interpretation of the results and genetic counseling, if needed.