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Genetic Testing for Alpha-1 Antitrypsin Deficiency

Blue Cross & Blue Shield of Mississippi·MS · Pulmonology, Gastroenterology, Family Medicine +1 more·Medical Policy
Effective date
Not stated
We identified it
Jun 20, 2026
Days to comply

Summary

New BCBS policy defines when genetic testing for Alpha-1 Antitrypsin Deficiency is covered. Testing is medically necessary for individuals with clinical suspicion (COPD, unexplained liver disease, necrotizing panniculitis, etc.) or family history, and when serum AAT levels show severe deficiency. All other genetic testing for AATD is considered investigational.

Action Required

Action needed
Immediately: Review all Alpha-1 Antitrypsin Deficiency genetic testing orders to ensure they meet medical necessity criteria. Billing team must verify patients have qualifying clinical factors (COPD, unexplained liver disease, necrotizing panniculitis, anti-proteinase 3-positive vasculitis, bronchiectasis, asthma with irreversible airflow obstruction), first-degree relative with AATD, or severe deficiency serum levels before submitting claims. Update prior authorization requests to include specific clinical justification. Claims not meeting these criteria will likely be denied as investigational.