Alpha-1-Antitrypsin Deficiency (SERPINA1) Targeted Testing

Short Name: SERPINA1 Targeted

Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. Manifestations of the deficiency include emphysema and liver disease. Emphysema becomes evident by the third to fourth decade. Liver disease occurs in both children and adults and may result in cirrhosis and liver failure. A missense mutation, c.1096G>A (p.Glu366ys), in SERPINA1 was identified as the genetic cause of this condition. This test will specifically analyze the c.1096G>A pathogenic variant in the Amish population.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 613490
MedGen: 67461