Prenatal Alpha Thalassemia Mutation Screening – 3 Common Mutations
Comprehensive Genetic Screening for Healthy Pregnancy Outcomes
Prenatal Alpha Thalassemia Mutation Screening represents a critical advancement in genetic medicine, offering expectant parents the opportunity to identify potential inherited blood disorders before birth. This sophisticated diagnostic test specifically targets three of the most prevalent genetic mutations associated with alpha thalassemia, providing families with essential information to make informed decisions about their pregnancy journey and future healthcare planning.
What Does This Test Detect?
Our specialized screening test identifies three specific genetic mutations in the HBA1 and HBA2 genes that are responsible for alpha thalassemia:
- –SEA deletion – The most common mutation in Southeast Asian populations
- -α3.7 deletion – Frequently found in Mediterranean and African populations
- -α4.2 deletion – Another significant mutation with global distribution
Using advanced End Point PCR technology, our laboratory analyzes DNA samples to detect these mutations with exceptional accuracy and reliability. The test examines genetic material from various sample types including peripheral blood, amniotic fluid, chorionic villi, or cord blood, depending on the stage of pregnancy and clinical requirements.
Who Should Consider This Screening?
This prenatal screening is particularly recommended for:
- Couples with family history of thalassemia or hemoglobin disorders
- Individuals from ethnic backgrounds with higher thalassemia prevalence (Southeast Asian, Mediterranean, African, Middle Eastern)
- Pregnant women with abnormal blood test results suggesting possible carrier status
- Couples planning pregnancy who want comprehensive genetic screening
- Individuals with unexplained anemia or microcytic red blood cells
Clinical Benefits and Importance
Early detection through prenatal alpha thalassemia screening offers numerous advantages:
- Informed Decision Making: Provides crucial information for pregnancy management decisions
- Prevention of Severe Complications: Identifies risk for hemoglobin Bart’s hydrops fetalis, a fatal condition
- Family Planning Guidance: Helps couples understand inheritance patterns and future pregnancy risks
- Early Intervention Planning: Allows preparation for potential specialized neonatal care
- Peace of Mind: Reduces anxiety by providing clear genetic information
Understanding Your Test Results
Our comprehensive report provides clear interpretation of your screening results:
- Normal Result: No detected mutations – indicates low risk for alpha thalassemia transmission
- Carrier Status: One mutation detected – indicates thalassemia trait with 25% risk of affected child if partner is also carrier
- Affected Status: Multiple mutations detected – indicates clinical alpha thalassemia requiring specialized care
All positive results include genetic counseling recommendations and detailed explanations of inheritance patterns. Our medical team provides comprehensive support to help you understand the implications of your results and next steps.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| Prenatal Alpha Thalassemia Mutation Screening – 3 Common Mutations | Discount Price: $188 Regular Price: $250 |
Turnaround Time: 10-12 days
Sample Types: Peripheral blood, Amniotic Fluid, Chorionic villi, Cord blood
Test Components: Sterile container, Sterile Normal Saline Container, EDTA Vacutainer (2ml)
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing 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 network of certified collection centers ensures easy access to this vital genetic screening regardless of your location.
Take Action for Your Family’s Health
Don’t leave your baby’s genetic health to chance. Our Prenatal Alpha Thalassemia Mutation Screening provides the critical information you need for a healthy pregnancy outcome. With our discounted price of only $188 USD and comprehensive genetic analysis, you can gain peace of mind and make informed decisions about your family’s future.
Book your test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Our genetic counselors are available to answer your questions and guide you through the testing process.
Note: This test requires a doctor’s prescription in most cases. Prescription requirements may not apply for surgery, pregnancy cases, or individuals planning international travel. Consult with our healthcare specialists for specific requirements in your situation.
