Beta Thalassemia 9 Common Mutations Screening Single
Comprehensive Genetic Screening for Inherited Blood Disorders
The Beta Thalassemia 9 Common Mutations Screening Single test represents a cutting-edge genetic diagnostic approach designed to identify individuals at risk for Beta Thalassemia, a hereditary blood disorder affecting hemoglobin production. This specialized screening targets nine of the most prevalent genetic mutations responsible for this condition, providing crucial insights for medical management and family planning decisions.
What Does This Test Measure?
This advanced genetic screening specifically detects mutations in the HBB gene that codes for the beta-globin chain of hemoglobin. The test examines nine common mutations including:
- IVS-I-1 (G→A)
- IVS-I-5 (G→C)
- IVS-I-6 (T→C)
- IVS-II-1 (G→A)
- IVS-II-745 (C→G)
- 619-bp deletion
- Codons 8/9 (+G)
- Codons 41/42 (-TTCT)
- Codons 15 (G→A)
Using sophisticated End Point PCR technology, the test analyzes peripheral blood samples collected in EDTA Vacutainers to provide highly accurate genetic information about thalassemia carrier status and potential risks.
Who Should Consider This Screening?
This genetic screening is particularly important for individuals who:
- Have a family history of thalassemia or related blood disorders
- Experience unexplained anemia or abnormal blood counts
- Are planning pregnancy or starting a family
- Belong to ethnic groups with higher thalassemia prevalence
- Show symptoms of chronic fatigue, weakness, or pale skin
- Have partners with known thalassemia carrier status
- Require pre-marital genetic counseling
Key Benefits of Early Detection
Undergoing Beta Thalassemia screening offers numerous advantages:
- Informed Family Planning: Understand genetic risks before starting a family
- Early Intervention: Implement appropriate medical management strategies
- Genetic Counseling: Make educated decisions based on comprehensive genetic information
- Peace of Mind: Eliminate uncertainty about hereditary conditions
- Cost-Effective Prevention: Avoid potential future medical complications and expenses
- Comprehensive Health Assessment: Gain complete understanding of your genetic health profile
Understanding Your Test Results
Your genetic screening results will fall into one of several categories:
- Normal Result: No detected mutations – indicates low risk for Beta Thalassemia
- Carrier Status: One mutated gene detected – indicates thalassemia trait with no symptoms but potential to pass to offspring
- Affected Status: Two mutated genes detected – indicates Beta Thalassemia requiring medical management
- Variant of Unknown Significance: Rare genetic variations requiring further evaluation
Our certified genetic counselors provide comprehensive result interpretation and personalized guidance based on your specific genetic profile and family history.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Beta Thalassemia 9 Common Mutations Screening Single | $132 USD | $176 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including 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 leave your genetic health to chance. The Beta Thalassemia 9 Common Mutations Screening Single test provides essential information for making informed health decisions and planning for your family’s future. With rapid 3-4 day turnaround times and expert genetic counseling support, you can gain peace of mind about hereditary blood conditions.
Ready to schedule your screening? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online to take the first step toward comprehensive genetic health assessment.
Note: This test requires a Doctor’s prescription in most cases. Prescription requirements may not apply for surgery preparation, pregnancy cases, or individuals planning international travel. Consult with our genetic counselors for specific requirements.
