Sickle Cell Anemia Trio Prenatal Mutation Detection Test
Comprehensive Prenatal Genetic Screening for Sickle Cell Disease
The Sickle Cell Anemia Trio Prenatal Mutation Detection Test represents a breakthrough in prenatal genetic diagnostics, offering families unprecedented insight into their baby’s genetic health. This sophisticated molecular test specifically targets mutations in the HBB gene, which is responsible for hemoglobin production and, when mutated, causes sickle cell disease. By analyzing genetic material from both parents alongside amniotic fluid samples, this test provides a comprehensive assessment of the fetus’s genetic status regarding sickle cell anemia.
What This Advanced Test Detects
This specialized genetic screening focuses exclusively on the HBB gene, which encodes the beta-globin subunit of hemoglobin. The test identifies specific mutations including:
- HbS mutation (Glu6Val) – the primary cause of sickle cell disease
- Other beta-globin gene variants that may affect disease severity
- Carrier status in both parents
- Fetal genotype for accurate prenatal diagnosis
Who Should Consider This Essential Screening?
This test is particularly recommended for:
- Couples with known family history of sickle cell disease or trait
- Individuals from ethnic backgrounds with higher sickle cell prevalence (African, Mediterranean, Middle Eastern, Indian descent)
- Parents who are confirmed carriers of sickle cell trait
- Couples planning pregnancy with concerns about genetic disorders
- Patients with abnormal hemoglobin electrophoresis results
Critical Benefits of Early Detection
Undergoing this comprehensive genetic screening provides numerous advantages:
- Informed Decision Making: Enables families to make educated choices about pregnancy management
- Early Intervention Planning: Allows healthcare providers to prepare for potential medical needs at birth
- Reduced Anxiety: Provides clarity and reduces uncertainty during pregnancy
- Family Planning Guidance: Offers valuable information for future reproductive decisions
- Comprehensive Assessment: Trio testing provides the most accurate genetic picture by analyzing both parents and the fetus
Understanding Your Test Results
Your results will fall into one of several categories, each with specific implications:
- Normal Result: No sickle cell mutations detected in the fetus
- Carrier Status: Fetus carries one copy of the mutation (sickle cell trait)
- Affected Status: Fetus carries two copies of the mutation (sickle cell disease)
- Compound Heterozygote: Fetus carries different mutations affecting hemoglobin
Our genetic counselors are available to help interpret your results and discuss next steps based on your specific situation.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Sickle Cell Anemia Trio Prenatal Mutation Detection Test – Discount Price | $326 |
| Sickle Cell Anemia Trio Prenatal Mutation Detection Test – Regular Price | $450 |
Nationwide Availability and Convenient Testing
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art facilities ensure accurate testing with rapid turnaround times – samples received by Monday 11 am yield results by Friday.
Take Control of Your Family’s Genetic Health
Don’t leave your baby’s genetic health to chance. The Sickle Cell Anemia Trio Prenatal Mutation Detection Test provides the comprehensive information you need for informed family planning and pregnancy management. Our experienced genetic counselors and hematology specialists are ready to support you through every step of the process.
Ready to schedule your test? Call us today at +1(267) 388-9828 or book your appointment online. Take the first step toward genetic clarity and peace of mind during your pregnancy journey.
