Test Code A1ALC Alpha-1-Antitrypsin Proteotype S/Z, LC-MS/MS, Serum
Useful For
Identification of homozygous and heterozygous S and Z proteotypes of alpha-1-antitrypsin deficiency
Profile Information
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
A1ASZ | A1AT Proteotype S/Z, LC-MS/MS | No | Yes |
AATP | Alpha-1-Antitrypsin, S | Yes, (order AAT) | Yes |
Reflex Tests
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
A1APR | Alpha-1-Antitrypsin Phenotype, S | Yes, (order A1APP) | No |
Testing Algorithm
If the mass spectrometry proteotype and quantitative serum level are discordant, then phenotyping will be added and performed at an additional charge.
For more information see Alpha-1-Antitrypsin-A Comprehensive Testing Algorithm
Special Instructions
Reporting Name
A1AT Proteotype S/Z, LC-MS/MS, SSpecimen Type
SerumSpecimen Required
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Red top
Acceptable: Serum gel
Submission Container/Tube: Plastic vial
Specimen Volume: 1.25 mL
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
Specimen Minimum Volume
0.5 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Serum | Refrigerated (preferred) | 28 days | |
Ambient | 28 days | ||
Frozen | 28 days |
Reference Values
ALPHA-1-ANTITRYPSIN:
100-190 mg/dL
ALPHA-1-ANTITRYPSIN PROTEOTYPE:
Negative for S and Z phenotype (Non S Non Z)
Interpretation
For each of the possible alpha-1-antitrypsin (A1A) genotypes there is an expected range for the total serum level of A1A. However, a number of factors can influence either the A1A serum level or the A1A proteotype results, including acute illness (A1A is an acute-phase reactant), protein replacement therapy, the presence of other rare variants, or the presence of rare DNA alterations (ie, polymorphisms). When the serum level differs from what is expected for that proteotype (ie, discordant), additional studies are performed to ensure the most appropriate interpretation of test results. Additional follow-up may include A1A phenotyping by isoelectric focusing, obtaining additional clinical information, and DNA sequencing. See Alpha-1-Antitrypsin Testing Result Table.
Clinical Reference
1. Murray JD, Willrich MA, Krowka MJ, et al. Liquid chromatography-tandem mass spectrometry based alpha1-antitypsin (AAT) testing. Am J Clin Clin Pathol. 2021;155(4):547-552
2. Chen Y, Snyder MR, Zhu Y, et al. Simultaneous phenotyping and quantification of alpha-1-antitrypsin by liquid chromatography-tandem mass spectrometry. Clin Chem. 2011;57(8):1161-1168
Day(s) Performed
Monday, Thursday
Report Available
7 to 14 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
82103
82542
82104 (if appropriate)
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
A1ALC | A1AT Proteotype S/Z, LC-MS/MS, S | 102082-5 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
AATP | Alpha-1-Antitrypsin, S | 6771-0 |
34855 | A1AT Proteotype S/Z, LC-MS/MS | 49244-7 |
Method Name
A1ASZ: Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
AATP: Nephelometry
A1APR: Isoelectric Focusing
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.Forms
If not ordering electronically, complete, print, and send a Gastroenterology and Hepatology Test Request (T728) with the specimen.