Genetic analysis for alpha-1 antitrypsin (AAT) variant detection using next-generation sequencing (NGS) probe
This test checks for mutations in the gene that produces alpha-1 antitrypsin, a protein that helps protect your lungs from damage caused by inflammation.
["Helps diagnose conditions linked to low alpha-1 antitrypsin levels, such as chronic obstructive pulmonary disease (COPD)."]
Key facts at a glance
- LOINC
- 105781-9
- Short code
- BLAGES
- Synonyms
- blaGES gene Ct Bld Pos Qn NAA+probe
- Category
- chemistry
- Sample
- whole-blood
- Container
- Positive blood culture bottle (aerobic or anaerobic) from continuous-monitoring blood culture system (e.g., BACTEC, BacT/ALERT)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- probe-amp-tar
- CPT
- 87640
- SNOMED
- 441636005
- Specimen volume
- 1-2 mL aliquot from positive blood culture bottle; do not submit the entire bottle
- Stability
- Stable at room temperature for up to 24 hours from time of blood culture positivity; refrigerate at 2-8°C if testing is delayed beyond 24 hours (up to 48 hours)
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 1–8 hours
- Order
- routine
Why This Test Matters for Your Health
Alpha-1 antitrypsin is crucial for lung and liver health. Deficiencies can lead to lung diseases like emphysema or liver cirrhosis. This test helps identify genetic risks early, allowing for proactive management if needed.
What to Expect Before the Test
No special preparation is required. A blood sample will be taken from a vein in your arm. If you have a history of blood draws, let your provider know to minimize discomfort.
How the Test Works
Your blood sample is analyzed using advanced genetic sequencing technology. This identifies any variations (mutations) in the alpha-1 antitrypsin gene that may affect protein production.
What the Results Mean
Results will show whether you carry normal or mutated copies of the alpha-1 antitrypsin gene. This information helps determine if you’re at higher risk for lung or liver disease.
Reference range
Detected or Not Detected; Cycle Threshold (Ct) value reported quantitatively when positive. Lower Ct values indicate higher bacterial loads.N/A
No special patient preparation required. Testing is performed on blood culture specimens already flagged positive by continuous-monitoring blood culture systems.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance
Short name
AAT Gene Sequencing
Frequently asked questions
How often should I get this test?
What are the typical reference ranges for this test?
Can I fast before this test?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy