A1ALC [A Test in Focus]

• Alpha-1-Antitrypsin Proteotype S/Z by LC-MS/MS, Serum
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• Determining the specific proteotype for prognosis and genetic counseling for patients with alpha-1-antitrypsin deficiency

• Serum — Click here to view full specimen details.

• Alpha-1-antitrypsin (A1A) inhibits the enzyme neutrophil elastase. This function is especially important in the lungs because it protects against excess tissue degradation.
• Patients with AIA deficiency may be misdiagnosed as having asthma because the symptoms (cough, wheezing, and dyspnea with exertion) are similar.
• A1A deficiency is a relatively common disorder in Northern European Caucasians.
• A1A is produced by the liver and mutations in the protein can cause defective transport out of the liver resulting in liver cell destruction and elevated liver enzymes.
• The combination of quantitation of the serum A1A and A1A proteotype determination by mass spectrometry is Mayo Clinic’s preferred approach to diagnose A1A deficiency.
• When the serum level differs from what is expected for that proteotype, additional studies are performed that may include A1A phenotyping by isoelectric focusing and DNA sequencing.

When should I order this test?

This test should be ordered for individuals suspected of A1A deficiency. The test can be used for diagnosis and to identify a specific proteotype to determine prognosis.

• A1ALC: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
• AATP: Nephelometry

• Day(s) and Time(s) Test Performed: Monday and Thursday; 12:00 p.m.
• Test reported Tuesday and Friday; 11:00 a.m.
• Analytic Time: 4 days