SERPINA1

OMIMHGNC

Synonym(s): AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT, PI

Locus: 14q32.1

Protein: Short peptide from AAT

 

Disorders

Tests

Test Type Method Laboratory
Alpha-1 Antitrypsin deficiency test◦ Molecular
◦ Sequencing, Capillary
Medical Genetics Center, Asian Medical Center - Seoul, Korea, Republic of
Alpha-1-Antitrypsin Mutation / Genotyping◦ Molecular
◦ Genotyping (Microarray, Beads, etc.)
Nebraska Medical Center, Molecular Diagnostic Laboratory - Omaha, NE, USA