Alpha Thalassemia Mutation Screening – 3 Common Mutations
Comprehensive Genetic Screening for Alpha Thalassemia
Alpha Thalassemia Mutation Screening is a sophisticated genetic test designed to detect three of the most common mutations responsible for alpha thalassemia, a hereditary blood disorder affecting hemoglobin production. This condition results from mutations in the HBA1 and HBA2 genes, leading to reduced or absent alpha-globin chain synthesis. Early detection through this screening provides crucial information for individuals and families at risk, enabling proactive healthcare decisions and informed family planning.
What Does This Test Detect?
Our advanced screening test specifically identifies three prevalent genetic mutations associated with alpha thalassemia:
- –SEA deletion – The most common mutation in Southeast Asian populations
- -α3.7 deletion – Frequently found in Mediterranean, African, and Middle Eastern populations
- -α4.2 deletion – Common in various ethnic groups worldwide
Using state-of-the-art End Point PCR technology, the test analyzes DNA extracted from peripheral blood samples to provide accurate, reliable results for these critical genetic variations.
Who Should Consider Alpha Thalassemia Screening?
Key Indicators and Risk Factors
This screening is particularly important for individuals experiencing:
- Unexplained microcytic hypochromic anemia
- Family history of thalassemia or related blood disorders
- Ethnic backgrounds with higher prevalence (Southeast Asian, Mediterranean, African, Middle Eastern)
- Couples planning pregnancy with known risk factors
- Abnormal hemoglobin electrophoresis results
- Persistent fatigue and weakness without clear cause
Significant Benefits of Early Detection
Proactive Health Management
Undergoing Alpha Thalassemia Mutation Screening offers numerous advantages:
- Informed Family Planning: Couples can understand their genetic risks before conception
- Early Intervention: Enables timely medical management for affected individuals
- Genetic Counseling: Provides basis for professional genetic counseling services
- Peace of Mind: Eliminates uncertainty about genetic carrier status
- Comprehensive Care: Facilitates appropriate follow-up testing and monitoring
Understanding Your Test Results
Interpreting Genetic Findings
Your test results will fall into one of several categories:
- Normal Result: No detected mutations – indicates low risk for alpha thalassemia
- Carrier Status: One mutation detected – indicates alpha thalassemia trait
- Multiple Mutations: Two or more mutations detected – suggests potential for more severe forms
All results are accompanied by detailed explanations and recommendations for follow-up care. Our genetic counselors are available to help you understand your results and discuss next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | Alpha Thalassemia Mutation Screening – 3 Common Mutations |
| Regular Price | $250 USD |
| Discount Price | $188 USD |
| Turnaround Time | 7-8 Days |
| Sample Type | Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | End Point PCR |
Important Pre-Test Information
Alpha Thalassemia mutation screening requires a Doctor’s prescription in most cases. However, prescription requirements do not apply for surgery preparation, pregnancy cases, or individuals planning international travel. Please consult with our staff to determine if you need a prescription for your specific situation.
Nationwide Testing Availability
We have convenient testing locations across the United States, including major cities such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks affect your health decisions. Our Alpha Thalassemia Mutation Screening provides the clarity you need for informed healthcare choices. With rapid 7-8 day turnaround and comprehensive analysis of three common mutations, this test represents exceptional value at only $188 USD.
Ready to schedule your test? Contact our genetic specialists today to book your appointment or discuss any questions you may have about alpha thalassemia screening.
Call or WhatsApp: +1(267) 388-9828
Our knowledgeable staff is available to assist with scheduling, answer questions about the testing process, and provide guidance on preparation requirements. Take the first step toward understanding your genetic health with confidence and professional support.

