SERPINA1 gene mutation; alpha-1 antitrypsin gene mutation
Jump to navigation
Jump to search
Clinical significance
- defects in SERPINA1 are the cause of alpha-1-antitrypsin deficiency
Specimen
- whole blood (ACD or EDTA)
- tissue
- store whole blood at room temperature or 4 degrees C
- store tissue frozen at -20 degrees C is nucleic acid cannot be immediately extracted
More general terms
Additional terms
- alpha-1 antitrypsin phenotyping
- alpha-1-antitrypsin; alpha-1 protease inhibitor; alpha-1-antiproteinase; Serpin A1 (SERPINA1, AAT, PI, PRO0684, PRO2209)
References
- ↑ Loinc
- ↑ Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995
- ↑ Panel of 5 tests Laboratory Test Directory ARUP: http://www.aruplab.com/guides/ug/tests/0051256.jsp
- ↑ Mini Panel of 2 tests: Alpha-1-Antitrypsin . A1A Phenotype Laboratory Test Directory ARUP: http://www.aruplab.com/guides/ug/tests/0080500.jsp