A1AT inhibits enzymes that would otherwise break down lung tissue. Inherited deficiency leads to inadequate protection of the lungs and can also cause liver disease because the abnormal protein accumulates in liver cells. Adults often present with early-onset emphysema; infants and children may present with jaundice or liver dysfunction.
This test is ordered for patients with unexplained early or non-smoking emphysema, family history of A1AT deficiency, infants with cholestatic jaundice, and adults with chronic unexplained liver disease. When low levels are found, follow-up genotyping confirms the specific deficiency type and guides counseling. Sample type is serum.
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