Test Code LAB2189 Alpha-1-Antitrypsin Phenotype, Serum
Additional Codes
A1APP
Useful 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 |
Testing Algorithm
See Alpha-1-Antitrypsin-A Comprehensive Testing Algorithm in Special Instructions.
Performing Laboratory
Mayo Clinic Laboratories in RochesterSpecimen 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
CPT Code Information
82103
82104
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
A1APP | Alpha-1-Antitrypsin Phenotype | 32769-2 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
AATP | Alpha-1-Antitrypsin, S | 6771-0 |
8166 | Alpha-1-Antitrypsin Phenotype | 32769-2 |
Interpretation
There are greater than 40 alpha-1-antitrypsin (A1A) phenotypes (most of these are associated with normal quantitative levels of protein). The most common normal phenotype is M (M, M1, or M2), and greater than 90% of individuals of European descent are genetically homozygous M (MM).
A1A deficiency is usually associated with the Z phenotype (homozygous ZZ), but SS and SZ are also associated with decreased A1A levels.
Method Description
Phenotyping is done by isoelectric focusing in agarose gels.(Package insert: Hydragel 18 A1AT Isofocusing. Sebia. 2013 July)
Nephelometry.(Instruction manual: Siemens Nephelometer II. Siemens, Inc., Newark, DE)
Report Available
2 to 6 daysReject Due To
Gross hemolysis | OK |
Gross lipemia | Reject |
Gross icterus | OK |
Method Name
A1AP2: Isoelectric Focusing
AATP: Nephelometry
Secondary ID
26953Forms
If not ordering electronically, complete, print, and send 1 of the following with the specimen:
-Gastroenterology and Hepatology Test Request (T728)
-General Request (T239)