Casandra
Casandra Test Code QD46995Version 1 (DRAFT)
Performing Lab
Alpha‑1 Antitrypsin (AAT) Quantitation and Mutation Analysis
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
Methodology
Other
Biomarkers
2 components
AAT QuantitationAAT Mutation Analysis
Result Turnaround Time
4-7 days
Related Documents
For more information, please review the documents below
Specimen Requirements
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 |
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