SERPINA1 Gene Alpha-1 Antitrypsin Deficiency NGS Genetic DNA Test
Understanding Alpha-1 Antitrypsin Deficiency Genetic Testing
The SERPINA1 Gene Alpha-1 Antitrypsin Deficiency NGS Genetic DNA Test represents a breakthrough in precision medicine for identifying individuals at risk for Alpha-1 Antitrypsin Deficiency (AATD). This comprehensive genetic analysis utilizes advanced Next-Generation Sequencing technology to examine the SERPINA1 gene, which encodes the alpha-1 antitrypsin protein essential for protecting lung tissue from damage caused by enzymes released during inflammation.
What Does This Test Measure?
This sophisticated genetic test specifically targets and sequences the entire SERPINA1 gene to identify mutations that lead to Alpha-1 Antitrypsin Deficiency. The test detects:
- Common pathogenic variants including the Z and S alleles
- Rare mutations affecting protein production and function
- Gene deletions and insertions impacting alpha-1 antitrypsin levels
- Compound heterozygous states that increase disease risk
- Specific genotype combinations determining disease severity
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Unexplained chronic obstructive pulmonary disease (COPD) symptoms
- Early-onset emphysema without significant smoking history
- Persistent asthma that doesn’t respond well to standard treatments
- Abnormal liver function tests or unexplained liver cirrhosis
- Family history of Alpha-1 Antitrypsin Deficiency
- Siblings or children of individuals diagnosed with AATD
- Unexplained bronchiectasis or chronic bronchitis
Clinical Benefits of Early Detection
Early identification of Alpha-1 Antitrypsin Deficiency through genetic testing provides numerous advantages:
- Enables proactive management to prevent lung function decline
- Guides appropriate treatment decisions including augmentation therapy
- Helps implement lifestyle modifications to protect lung health
- Provides crucial information for family planning and genetic counseling
- Reduces risk of liver complications through early monitoring
- Facilitates smoking cessation and environmental exposure avoidance
Understanding Your Test Results
Your genetic test results will provide detailed information about your SERPINA1 gene status:
- Normal Result: No pathogenic variants detected – indicates typical alpha-1 antitrypsin production
- Carrier Status: One abnormal copy detected – indicates increased risk for offspring but typically no symptoms
- Deficient Status: Two abnormal copies detected – confirms Alpha-1 Antitrypsin Deficiency diagnosis
- Compound Heterozygote: Two different abnormal copies – indicates varying disease severity
All results include comprehensive interpretation by our genetic specialists and recommendations for follow-up care and monitoring.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SERPINA1 Gene Alpha-1 Antitrypsin Deficiency NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to understand implications
- Family pedigree chart development for affected relatives
- Discussion of potential outcomes with healthcare provider
Nationwide Testing Availability
We proudly offer this advanced genetic testing service across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to uncover crucial information about your genetic predisposition to Alpha-1 Antitrypsin Deficiency. Early detection can significantly impact your long-term health outcomes and quality of life. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SERPINA1 Gene Alpha-1 Antitrypsin Deficiency NGS Genetic DNA Test and take the first step toward personalized health management.
