Alpha‑1 Antitrypsin (AAT) Quantitation and Mutation Analysis
Use
Assists in the evaluation of alpha-1 antitrypsin deficiency, which is implicated in early-onset pulmonary disease such as emphysema and chronic bronchitis, as well as hepatic disorders like neonatal hepatitis and cirrhosis. Quantitation of serum AAT levels, combined with mutation analysis, supports diagnostic and screening efforts in individuals suspected of having inherited AAT deficiency.
Special Instructions
This germline genetic test requires physician attestation that patient consent has been received if the ordering medical facility is located in AK, DE, FL, GA, IA, MN, NV, NJ, NY, OR, SD or VT, or if the test is performed in MA. Both serum and whole blood specimens are required.
Limitations
Rare alleles other than the common S and Z variants are not assessed by this assay. Interpretation of mutation analysis must consider that rare or novel variants may not be detected.
Methodology
Other
Biomarkers
Result Turnaround Time
4-7 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
1 mL
Minimum Volume
0.5 mL
Collection Instructions
Serum required
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |
| Frozen | 90 days |