Alpha-1 Antitrypsin (AAT) Mutation Analysis
Also known as: AAT Deficiency, Alpha-1 Protease Inhibitor (PI) Mutation, AAT Genotype, AAT Mutation, Alpha-1 Antitrypsin Genotype
Use
This test is a germline genetic assay intended to aid in diagnosis and genetic evaluation of individuals suspected to have alpha‑1 antitrypsin deficiency. It detects mutations in the SERPINA1 gene associated with clinically significant AAT deficiency.
Special Instructions
This germline genetic test requires physician attestation that patient consent has been received if ordering facility is located in AK, DE, FL, GA, IA, MN, NV, NJ, NY, OR, SD or VT or if test is performed in MA.
Limitations
Not explicitly stated in available sources; molecular genetic testing may not detect all rare variants beyond those interrogated by PCR‑based mutation analysis; results should be interpreted in context of clinical and family history.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
5-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL (2 mL minimum)
Minimum Volume
2 mL
Container
EDTA (lavender‑top) tube
Collection Instructions
Whole Blood: Use normal phlebotomy procedure. Do not transfer to other containers. Store and ship ambient immediately. Do not freeze.