I am researching Alpha-1 antitrypsin deficiency. Please identify the gene primarily associated with this condition, its chromosomal location, and the specific type of genetic change that causes it. Additionally, describe the normal function of the protein product of this gene, and find out if there are any specific genetic tests mentioned for diagnosing this condition on the website.
Navigate to 'https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/'. Locate the 'Causes' section to identify the gene responsible and the type of genetic change. Extract the name of the gene and the specific type of genetic change. Click on the link for the identified gene (e.g., 'SERPINA1 gene') to navigate to its dedicated page. On the gene's page, locate and extract its chromosomal location. On the gene's page, locate the 'Normal Function' section and extract the name of the protein product and its normal function. On the condition page or the gene page, look for information related to genetic tests or diagnosis for Alpha-1 antitrypsin deficiency, potentially under sections like 'Diagnosis', 'Medical Tests', or 'Understanding Genetics'. Synthesize all collected information to answer the task, including any mentioned genetic tests.
The agent successfully navigates to the 'Alpha-1 antitrypsin deficiency' condition page. The agent correctly identifies the `SERPINA1` gene as the primary gene involved. The agent correctly states that Alpha-1 antitrypsin deficiency is caused by variants (mutations) in the `SERPINA1` gene. The agent successfully navigates to the `SERPINA1` gene page. The agent correctly identifies the chromosomal location of the `SERPINA1` gene as 'chromosome 14 at position q32.1'. The agent correctly states that the `SERPINA1` gene provides instructions for making a protein called alpha-1 antitrypsin. The agent correctly describes the normal function of alpha-1 antitrypsin, e.g., 'This protein protects the body from a powerful enzyme called neutrophil elastase.' The agent correctly identifies that 'Alpha-1 antitrypsin deficiency genetic testing' is a mentioned genetic test for diagnosing the condition.