α1-Antitrypsin Deficiency Profile
Also known as: Alpha1-Antitrypsin Deficiency
Use
The α1-Antitrypsin Deficiency Profile is used to diagnose alpha-1 antitrypsin deficiency, a genetic condition that can result in serious lung and liver disease. It detects common associated mutations (S and Z) via genotyping, the level of α1-antitrypsin in the serum, and performs a reflex to phenotype using isoelectric focusing. This multi-faceted approach enables more accurate detection of this deficiency.
Special Instructions
Not provided.
Limitations
This assay is limited to detecting the two most common mutations, S and Z. It cannot identify rare alleles, null alleles, or any mutations beyond these two. The test may show elevated levels during concurrent infections, pregnancy, or medication use, which can obscure detection unless specifically accounted for.
Methodology
Immunoassay
Biomarkers
LOINC Codes
- 1825-9 - A1AT SerPl-mCnc
- 1825-9 - A1AT SerPl-mCnc
- 21723-2 - SERPINA1 gene Mut Anl Bld/T
- 21726-5 - SERPINA1 gene Mut Tested Bld/T
- 72486-4 - Lab director name Provider
- 6770-2 - A1AT Phenotyp SerPl IFE
- 32769-2 - A1AT Phenotyp SerPl-Imp
Result Turnaround Time
6-12 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
3 mL
Minimum Volume
1.2 mL
Container
Red-top tube or gel-barrier tube
Patient Preparation
Overnight fasting is preferred.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Chylous serum; hemolysis; quantity not sufficient for analysis; improper container; frozen whole blood
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days at 4°C |
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