Alpha-1 Antitrypsin AAT Phenotype Test
Understanding Alpha-1 Antitrypsin Deficiency
Alpha-1 Antitrypsin (AAT) is a vital protein produced primarily in the liver that protects the lungs from damage caused by enzymes released during inflammation. The AAT Phenotype Test is a sophisticated genetic analysis that identifies specific variations in the SERPINA1 gene, which codes for the alpha-1 antitrypsin protein. This comprehensive testing is essential for diagnosing Alpha-1 Antitrypsin Deficiency, a hereditary condition that significantly increases the risk of developing serious lung and liver diseases.
What Does the Test Measure?
The Alpha-1 Antitrypsin AAT Phenotype Test utilizes isoelectric focusing technology to precisely identify the specific genetic variants of the alpha-1 antitrypsin protein in your bloodstream. This advanced methodology detects:
- Specific protein phenotypes (M, S, Z variants)
- Genetic combinations that determine AAT levels
- Risk assessment for lung and liver complications
- Inheritance patterns for family planning
Who Should Consider This Test?
This test is particularly recommended for individuals experiencing:
- Unexplained shortness of breath or wheezing
- Early-onset emphysema or COPD diagnosis
- Chronic bronchitis symptoms without smoking history
- Family history of lung or liver disease
- Abnormal liver function tests
- Unexplained liver cirrhosis in adults
- Neonatal hepatitis or prolonged jaundice in infants
Clinical Symptoms That Warrant Testing
Patients presenting with these symptoms should discuss AAT testing with their healthcare provider:
- Progressive breathing difficulties starting before age 45
- Chronic cough with mucus production
- Recurrent respiratory infections
- Decreased exercise tolerance
- Wheezing that doesn’t respond to standard treatments
- Liver abnormalities without clear cause
Benefits of Alpha-1 Antitrypsin Testing
Early detection through AAT phenotype testing offers numerous advantages:
- Accurate Diagnosis: Provides definitive identification of Alpha-1 Antitrypsin Deficiency
- Personalized Treatment: Enables targeted therapy including augmentation therapy
- Preventive Measures: Allows implementation of lifestyle changes to protect lung function
- Family Screening: Identifies at-risk relatives for early intervention
- Improved Outcomes: Early intervention can significantly slow disease progression
- Comprehensive Care Planning: Facilitates coordinated care between pulmonologists and hepatologists
Understanding Your Test Results
Your AAT phenotype results will fall into several categories with distinct clinical implications:
Normal Results (MM Phenotype)
Individuals with the MM phenotype have normal alpha-1 antitrypsin levels and are not at increased risk for AAT deficiency-related diseases. This result indicates adequate protection against lung tissue damage.
Carrier Status (MS or MZ Phenotype)
These individuals carry one normal gene and one abnormal gene. While they typically have sufficient AAT levels for lung protection, they can pass the abnormal gene to their children. Regular monitoring may be recommended.
Deficiency States (SS, SZ, or ZZ Phenotype)
These results indicate significant AAT deficiency requiring immediate medical attention:
- SS Phenotype: Moderate deficiency with increased lung disease risk
- SZ Phenotype: Moderate to severe deficiency requiring close monitoring
- ZZ Phenotype: Severe deficiency with high risk for emphysema and liver disease
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| Alpha-1 Antitrypsin AAT Phenotype Test | $626 USD | $450 USD |
Testing Process and Timeline
Our testing process ensures accuracy and reliability:
- Sample Collection: 2 mL serum from Red Top tube (no SST gel barrier tubes)
- Sample Submission: Samples accepted by the 7th of each month
- Turnaround Time: Results available within 2-3 weeks
- Shipping Requirements: Refrigerated or frozen transport
- Required Documentation: Completed Test Send Out Consent Form (Form 35)
Nationwide Testing Availability
General Genetics Corporation provides comprehensive Alpha-1 Antitrypsin testing services across the United States. We have established branches in all major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston and Texas locations
- Phoenix and Southwest facilities
- Miami and Florida centers
- Seattle and Pacific Northwest clinics
Take Control of Your Respiratory Health
Don’t let unexplained respiratory symptoms or family history of lung disease go unaddressed. The Alpha-1 Antitrypsin AAT Phenotype Test provides critical information for managing your long-term health. Early detection can make a significant difference in treatment outcomes and quality of life.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing needs and schedule your Alpha-1 Antitrypsin AAT Phenotype Test. Our team is available to answer your questions and guide you through the testing process.
Call or WhatsApp: +1(267) 388-9828
Book your comprehensive genetic assessment and take the first step toward understanding your respiratory health risks. Our experienced healthcare professionals are ready to provide the personalized care and accurate testing you deserve.
