Rare α₁-antitrypsin genotype in a grass seed worker

Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians

“…Furthermore, results will only be returned for pre-specified mutations of AAT. Rare mutations associated with normal serum levels may be missed and particular care must be taken not to interpret negative genotype results as "normal" or "M" as has been frequently reported in the literature [40][41][42] .…”