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SERPINA1 gene mutation; alpha-1 antitrypsin gene mutation

Clinical significance: - defects in SERPINA1 are the cause of alpha-1-antitrypsin deficiency Specimen: 1) whole blood (ACD or EDTA) 2) tissue 3) store whole blood at room temperature or 4 degrees C 4) store tissue frozen at -20 degrees C is nucleic acid cannot be immediately extracted

Related

alpha-1 antitrypsin phenotyping alpha-1-antitrypsin; alpha-1 protease inhibitor; alpha-1-antiproteinase; Serpin A1 (SERPINA1, AAT, PI, PRO0684, PRO2209)

General

gene mutation testing; gene mutation analysis

References

  1. Loinc
  2. Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995
  3. Panel of 5 tests Laboratory Test Directory ARUP: 51256
  4. Mini Panel of 2 tests: Alpha-1-Antitrypsin . A1A Phenotype Laboratory Test Directory ARUP: 80500