Prenatal Hemophilia A Common Mutation Screening – Factor VIII Intron 22 and Intron 1 Inversion Analysis
Comprehensive Introduction to Prenatal Hemophilia A Screening
Prenatal Hemophilia A Common Mutation Screening represents a crucial advancement in genetic diagnostics, specifically designed to detect the most frequent genetic mutations responsible for Hemophilia A during pregnancy. This specialized test focuses on identifying Factor VIII gene inversions in Intron 22 and Intron 1 regions, which collectively account for nearly half of all severe Hemophilia A cases worldwide. The ability to detect these specific mutations prenatally provides expecting families with invaluable information for making informed decisions about pregnancy management and future healthcare planning.
Hemophilia A is an X-linked recessive bleeding disorder caused by deficiencies in clotting Factor VIII. The inversions detected by this screening test represent the most common genetic abnormalities leading to severe forms of the condition. Early identification through prenatal screening enables healthcare providers to prepare appropriate medical interventions and develop comprehensive care strategies for affected infants.
What This Advanced Genetic Test Detects
This sophisticated screening test specifically targets and identifies:
- Factor VIII Intron 22 Inversion mutations
- Factor VIII Intron 1 Inversion mutations
- Genetic rearrangements affecting blood clotting factor production
- Specific DNA sequence inversions that disrupt normal gene function
The test utilizes End Point PCR methodology to accurately detect these critical genetic abnormalities. These inversions represent the most prevalent genetic causes of severe Hemophilia A, making this screening particularly valuable for at-risk families.
Who Should Consider Prenatal Hemophilia A Screening?
This specialized genetic screening is recommended for:
- Pregnant women with family history of Hemophilia A
- Couples where the mother is a known carrier of Hemophilia A
- Families with previous children diagnosed with Hemophilia A
- Women with unexplained bleeding disorders in their family medical history
- Those seeking comprehensive prenatal genetic information
Significant Benefits of Early Detection
Undergoing Prenatal Hemophilia A Common Mutation Screening offers numerous advantages:
- Early Intervention Planning: Allows medical teams to prepare for specialized care at birth
- Informed Decision Making: Provides crucial information for pregnancy management decisions
- Genetic Counseling Support: Enables targeted genetic counseling based on specific mutation findings
- Family Planning Insights: Offers valuable information for future family planning considerations
- Reduced Diagnostic Uncertainty: Provides definitive answers about specific genetic risks
Understanding Your Test Results
Your screening results will provide clear genetic information:
- Normal Result: No Factor VIII Intron 22 or Intron 1 inversions detected
- Positive for Mutation: Specific inversion mutation identified, indicating Hemophilia A risk
- Carrier Status: Important information for female fetuses regarding carrier potential
All results are accompanied by comprehensive genetic counseling to ensure complete understanding and appropriate next steps. Our genetic specialists will guide you through result interpretation and discuss implications for your pregnancy and family health.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Prenatal Hemophilia A Common Mutation Screening – Factor VIII Intron 22 and Intron 1 Inversion Analysis | $376 USD | $500 USD |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston and Texas metropolitan areas
- Phoenix and Southwest locations
- All other major metropolitan areas nationwide
Take Action for Your Family’s Health
Don’t leave genetic health questions unanswered. Our specialized Prenatal Hemophilia A Screening provides the clarity and confidence you need during your pregnancy journey. With rapid 10-11 day turnaround times and comprehensive genetic counseling support, we make advanced genetic testing accessible and understandable.
Book your Prenatal Hemophilia A Common Mutation Screening today by calling our dedicated genetic testing specialists at +1(267) 388-9828. Our team is ready to answer your questions, schedule your appointment, and guide you through the testing process with compassion and expertise.
Take the important step toward comprehensive prenatal care and genetic awareness. Contact us now to schedule your screening and gain the peace of mind that comes with advanced genetic knowledge.
