Alpha-1-Antitrypsin Phenotype, Serum
Use
The test is useful for identifying homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency, which is associated with the development of emphysema at an unusually early age and with an increased incidence of neonatal hepatitis, usually progressing to cirrhosis. It helps in understanding the physiology and pathophysiology related to alpha-1-antitrypsin, the most abundant serum protease inhibitor, and its role in inhibiting trypsin and elastin.
Special Instructions
Not provided.
Limitations
The test identifies the phenotype of the circulating alpha-1-antitrypsin (A1A) protein. If the patient is on replacement therapy or has been recently transfused, it might detect both patient and replacement/transfused plasma A1A protein. The test cannot detect a null allele responsible for A1A deficiency. When two bands are seen, for example, an M and a Z band, it is reported as MZ. If one band, like a Z band, is seen and the quantitative level indicates a homozygote, the phenotype is assumed to be homozygous and is reported as ZZ.
FDA ApprovedNew York Approved
Methodology
Other
Biomarkers
Alpha-1-Antitrypsin
Protein
LOINC Codes
- 32769-2 - A1AT Phenotyp SerPl-Imp
- 6771-0 - A1AT SerPl Neph-mCnc
- 32769-2 - A1AT Phenotyp SerPl-Imp
Result Turnaround Time
2-6 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
1.25 mL
Minimum Volume
0.5 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Causes for Rejection
Gross lipemia
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 28 days |
| Refrigerated | 28 days |
| Frozen | 28 days |