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HelpTest Code A1APP Alpha-1-Antitrypsin Phenotype, Serum
Reporting Name
Alpha-1-Antitrypsin PhenotypeUseful For
Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency
Profile Information
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| A1AP2 | Alpha-1-Antitrypsin Phenotype | No | Yes |
| AATP | Alpha-1-Antitrypsin, S | Yes, (Order AAT) | Yes |
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
SerumSpecimen Required
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 |
Special Instructions
Reference Values
ALPHA-1-ANTITRYPSIN
100-190 mg/dL
ALPHA-1-ANTITRYPSIN PHENOTYPE
The interpretive report will identify the alleles present. For rare alleles, the report will indicate whether or not they have been associated with reduced quantitative levels of alpha-1-antitrypsin.
Day(s) Performed
Monday through Friday
Test Classification
This test has been cleared, approved, or is exempt by the US Food and Drug Administration and is used per manufacturer's instructions. Performance characteristics were verified by Mayo Clinic in a manner consistent with CLIA requirements.CPT Code Information
82103
82104
Clinical Information
Alpha-1-antitrypsin (A1A) is the most abundant serum protease inhibitor and inhibits trypsin and elastin, as well as several other proteases. The release of proteolytic enzymes from plasma onto organ surfaces and into tissue spaces results in tissue damage unless inhibitors are present. Congenital deficiency of A1A is associated with the development of emphysema at an unusually early age and with an increased incidence of neonatal hepatitis, usually progressing to cirrhosis.
Most normal individuals have the M phenotype (M, M1, or M2). Over 99% of M phenotypes are genetically MM. In the absence of family studies, the phenotype (M) and quantitative level can be used to infer the genotype (MM). The most common alleles associated with a quantitative deficiency are Z and S.
See Alpha-1-Antitrypsin-A Comprehensive Testing Algorithm in Special Instructions.
Report Available
2 to 6 daysReject Due To
| Gross hemolysis | OK |
| Gross lipemia | Reject |
| Gross icterus | OK |
Method Name
A1AP2: Isoelectric Focusing
AATP: Nephelometry
Forms
If not ordering electronically, complete, print, and send 1 of the following with the specimen:
-Gastroenterology and Hepatology Test Request (T728)
-General Request (T239)