Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype
Also known as: A1A GENO
Use
The test is used to identify alpha-1-antitrypsin deficiency, which is associated with respiratory and liver diseases. Alpha-1-antitrypsin deficiency is an autosomal recessive condition caused by mutations in the SERPINA1 gene, leading to decreased levels of the alpha-1-antitrypsin protein which protects the lungs and liver from damage. The test detects the presence of the common deficiency alleles S and Z, and measures the serum concentration of the protein. Phenotyping may be added if certain genetic conditions are met.
Special Instructions
This test requires informed consent for genetic testing for New York state patients. Genetic counseling is recommended. Additional charges apply if reflex testing for phenotyping is required.
Limitations
The test will not detect mutations in the SERPINA1 gene other than the S (c.791A>T) and Z (c.1024G>A) alleles. Diagnostic errors may occur due to rare sequence variations. The test is developed and its performance characteristics determined by ARUP Laboratories and is not FDA cleared or approved.
New York Approved
Methodology
Immunoassay (Immunoturbidimetry)
Biomarkers
LOINC Codes
- 1825-9
- 1829-1
- 1831-7
- 1830-9
- 49244-7
- 31208-2
Result Turnaround Time
2-10 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.5 mL
Minimum Volume
0.5 mL
Container
Serum separator tube
Collection Instructions
Allow serum to clot completely at room temperature. Separate serum from cells ASAP or within 2 hours of collection.
Storage Instructions
Transport at refrigerated temperature.
Causes for Rejection
Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week |
| Refrigerated | 3 months |
| Frozen | 3 months |
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