Alpha 1 Antitrypsin Type S/Z (Sendout)
General Information
- Lab Name
- Alpha 1 Antitrypsin Type S/Z
- Lab Code
- RA1APR
- Epic Ordering
- Alpha 1 Antitrypsin Type S/Z (Sendout)
- External Test Id
- A1ALC
- Description
Useful For: Identification of homozygous and heterozygous S and Z proteotypes of alpha-1-antitrypsin deficiency.
Testing Algorithm: If the mass spectrometry proteotype and quantitative serum level are discordant, then phenotyping will be added and performed at an additional charge.
- Synonyms
- A1ALC, A1AT Proteotype S/Z, Alpha 1 Antitrypsin Deficiency Profile, Alpha-1-Antitrypsin, Pi Typing (Alpha-1-Antitrypsin Proteotyping), Protease Inhibitor Allo Typing
- Components
-
Code Name RA1A Alpha 1 Antitrypsin, Total RA1ASZ Alpha 1 Antitrypsin Type S/Z
Interpretation
- Method
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS), Nephelometry, Isoelectric Focusing (reflex phenotyping)
- Reference Range
- See individual components
- Ref. Range Notes
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.
- Interferences and Limitations
Cautions:
This assay will not detect 5% of the known genetic variants that cause alpha-1-antitrypsin (A1A) deficiency. Therefore, the absence of a detectable genetic variant does not rule out the possibility that an individual is a carrier of, or affected with, this disease.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in the interpretation of results may occur if information given is inaccurate or incomplete.
Rare variants exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.
Errors in interpretation may occur if patients have had a recent blood transfusion or are on A1A replacement therapy.
Ordering & Collection
- Specimen Type
- Blood
- Collection
-
4 mL blood in RED TOP tube or GOLD SST
- Handling Instructions
Outside Laboratories: Centrifuge sample and transfer serum to a separate plastic vial. Refrigerate serum.
Stability: Refrigerated (preferred): 28 days; Frozen: 28 days; Ambient: 28 days.
Reject Due To: Gross lipemia. Gross hemolysis and gross icterus are acceptable.
- Quantity
-
requested: 1.3 mL serum
minimum: 0.5 mL serum
Processing
- Processing
Centrifuge sample and transfer serum to a separate plastic vial. Refrigerate serum.
Sendouts:
- Order Mayo Test: A1ALC.
- Interfaced: Yes.
Stability: Refrigerated (preferred): 28 days; Frozen: 28 days; Ambient: 28 days.
Reject Due To: Gross lipemia. Gross hemolysis and gross icterus are acceptable.
Performance
- LIS Dept Code
- Sendouts Mayo Lab (RF) (MARF)
- Performing Location(s)
-
Sendout Mayo Clinic Laboratories (Superior Drive)
800-533-17103050 Superior Drive NW
Rochester, MN 55901 - Frequency
- Performed: Monday - Friday. Report Available: 2-6 days.
- Available STAT?
- No
Billing & Coding
- CPT codes
- 82103, 82542
- LOINC
- 18719-5