Beta Thalassemia 9 Common Mutations Screening Couple
Comprehensive Genetic Screening for Family Planning
The Beta Thalassemia 9 Common Mutations Screening Couple test represents a crucial advancement in preventive genetic medicine, specifically designed for couples planning to start a family. This sophisticated diagnostic tool provides essential insights into genetic compatibility and helps identify potential risks for inherited blood disorders before conception.
What is Beta Thalassemia?
Beta thalassemia is an inherited blood disorder characterized by reduced production of hemoglobin, the oxygen-carrying protein in red blood cells. This condition results from mutations in the HBB gene, which provides instructions for making the beta-globin subunit of hemoglobin. When both parents carry beta-thalassemia mutations, there’s a 25% chance their child will inherit the severe form of the disease.
What the Test Detects
Our advanced screening test specifically identifies nine of the most common beta-thalassemia mutations using cutting-edge End Point PCR technology:
- IVS I-1 (G→A)
- IVS I-5 (G→C)
- IVS I-110 (G→A)
- IVS II-1 (G→A)
- IVS II-745 (C→G)
- Codons 8/9 (+G)
- Codons 41/42 (-TTCT)
- Codon 15 (G→A)
- Codon 26 (G→A) – HbE mutation
Who Should Consider This Test
This screening is particularly recommended for:
- Couples planning pregnancy, especially those from high-risk ethnic backgrounds
- Individuals with family history of thalassemia or related blood disorders
- People experiencing unexplained anemia or abnormal blood counts
- Couples from Mediterranean, Middle Eastern, African, or Southeast Asian descent
- Individuals with known carrier status in their family
- Couples seeking comprehensive preconception genetic screening
Common Symptoms and Risk Factors
While carriers typically show no symptoms, individuals with beta-thalassemia may experience:
- Fatigue and weakness
- Pale or yellowish skin
- Facial bone deformities
- Slow growth in children
- Abdominal swelling
- Dark urine
Benefits of Beta Thalassemia Screening
- Informed Family Planning: Make educated decisions about pregnancy with complete genetic information
- Early Intervention: Identify risks before conception for proper medical guidance
- Peace of Mind: Eliminate uncertainty about genetic compatibility
- Comprehensive Analysis: Test for the nine most common mutations with high accuracy
- Quick Results: Receive comprehensive findings within 3-4 days
- Professional Counseling: Access genetic counseling services for result interpretation
Understanding Your Test Results
Your results will fall into one of these categories:
Normal Results
No beta-thalassemia mutations detected. This significantly reduces the risk of having a child with beta-thalassemia major, though it doesn’t eliminate all genetic risks.
Carrier Status
Detection of one mutation indicates carrier status. Carriers typically don’t show symptoms but can pass the mutation to their children.
Both Partners as Carriers
When both partners are carriers, there’s a 25% chance with each pregnancy of having a child with beta-thalassemia major, requiring specialized medical consultation.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | Beta Thalassemia 9 Common Mutations Screening Couple |
| Regular Price | $250 USD |
| Discount Price | $188 USD |
| Turnaround Time | 3-4 days |
| Sample Type | Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | End Point PCR |
Pre-Test Instructions
The Beta Thalassemia 9 Common Mutations Screening Couple test requires a doctor’s prescription in most cases. However, prescription requirements do not apply for:
- Surgery preparation cases
- Pregnancy-related testing
- Individuals planning international travel
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, San Jose, and many more. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health
Don’t leave your family’s genetic health to chance. The Beta Thalassemia 9 Common Mutations Screening Couple provides the critical information needed for informed family planning decisions. Our experienced genetic counselors are available to help you understand your results and discuss next steps.
Ready to Schedule Your Test?
Take the first step toward comprehensive genetic screening. Contact our dedicated team today to schedule your appointment or learn more about our genetic testing services.
Call or WhatsApp: +1(267) 388-9828
Our genetic specialists are available to answer your questions and help you book your Beta Thalassemia screening test at our convenient locations across the USA.
