Alpha-1-antitrypsin - serum
Last updated: Wednesday, 07, April, 2004
MBS Online Search Page: Click here for details
5 mL blood in plain tube.
5 mL blood in lithium heparin tube for genotyping, if indicated.
Immunoassay; IEF for phenotyping.
| Reference Interval|
0.9-1.7 g/L (method dependent).
Detection of hereditary deficiency. Investigation of early onset emphysema; neonatal hepatitis; juvenile cirrhosis; panniculitis.
α1-antitrypsin deficiency is associated with early onset emphysema, hepatitis and cirrhosis and with panniculitis. If deficiency is documented, phenotyping should be done on proband and family. Levels of α1-antitrypsin are increased in an acute phase response and this may mask a deficiency state; if there is a high clinical suspicion of α1-antitrypsin deficiency, phenotyping should be performed, regardless of the α1-antitrypsin level.
Genetic variants with at least 100 alleles have been described; genotyping is currently available for two phenotypes associated with disease: S and Z.
Perlmutter DH. Gastroenterol Clin N Amer 1995; 24: 27-43.