Cystic Fibrosis Mutation Screening CFTR Del 508 Prenatal Test
Understanding Cystic Fibrosis Prenatal Screening
Cystic Fibrosis (CF) is a serious genetic disorder that primarily affects the lungs and digestive system, causing persistent lung infections and limiting the ability to breathe over time. The Cystic Fibrosis Mutation Screening CFTR Del 508 Prenatal test represents a crucial advancement in prenatal care, specifically designed to detect the most common genetic mutation responsible for this condition during pregnancy.
This specialized screening focuses on identifying the Delta F508 deletion in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, which accounts for approximately 70% of all cystic fibrosis cases worldwide. Early detection through prenatal screening provides expectant parents with essential information to make informed decisions about their pregnancy and prepare for any necessary medical interventions.
What This Test Measures and Detects
The Cystic Fibrosis Mutation Screening utilizes sophisticated Sanger Sequencing technology to analyze specific genetic markers:
- Delta F508 Mutation Detection: Identifies the specific three-base pair deletion in the CFTR gene that causes cystic fibrosis
- CFTR Gene Analysis: Examines the critical gene responsible for regulating salt and water movement in and out of cells
- Carrier Status Determination: Helps identify if parents carry the CFTR gene mutation
- Fetal Genetic Assessment: Provides comprehensive analysis of the developing baby’s genetic makeup
Who Should Consider This Prenatal Screening
This test is particularly recommended for:
- Couples with Family History: Individuals with known family history of cystic fibrosis
- Carrier Screening Candidates: Parents identified as carriers through previous genetic testing
- High-Risk Populations: Individuals of Caucasian European descent, where CF is most prevalent
- Preconception Planning: Couples planning pregnancy who want comprehensive genetic information
- Advanced Maternal Age: Women over 35 considering pregnancy
Common Indications Include:
- Previous child with cystic fibrosis
- Known carrier status in either parent
- Abnormal ultrasound findings suggestive of CF
- Family planning with genetic concerns
Benefits of Prenatal Cystic Fibrosis Screening
Choosing this advanced genetic screening offers numerous advantages:
- Early Intervention Planning: Allows for preparation and specialized care if CF is detected
- Informed Decision Making: Provides crucial information for pregnancy management decisions
- Peace of Mind: Offers reassurance when results are negative for the mutation
- Comprehensive Genetic Counseling: Includes professional guidance on results interpretation
- Family Planning Insights: Helps understand genetic risks for future pregnancies
- Advanced Medical Preparation: Enables coordination with pediatric specialists if needed
Understanding Your Test Results
Your genetic screening results will fall into one of several categories:
Negative Result
A negative result indicates that the Delta F508 mutation was not detected in the tested sample. This significantly reduces the likelihood of cystic fibrosis in your baby, though it doesn’t completely eliminate the possibility of other rare CF mutations.
Positive Result
A positive result means the Delta F508 mutation was identified. This indicates an increased risk for cystic fibrosis, and comprehensive genetic counseling is recommended to discuss implications and next steps.
Carrier Status
If carrier testing is performed, results will indicate whether parents carry the CFTR gene mutation, helping assess inheritance risks.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | Cystic Fibrosis Mutation Screening CFTR Del 508 Prenatal |
| Discount Price | $262 USD |
| Regular Price | $350 USD |
| Turnaround Time | 7-8 days |
| Sample Type | Amniotic fluid / Chorionic villi / Cord blood |
| Testing Method | Sanger Sequencing |
| Test Components | Sterile container / Sterile Normal Saline Container / EDTA Vacutainer (2ml) |
Pre-Test Instructions and Requirements
The Cystic Fibrosis mutation screening requires a doctor’s prescription for testing. Please note that prescriptions are not applicable for surgery and pregnancy cases or individuals planning to travel abroad. Consultation with your gynecologist or genetic counselor is recommended before proceeding with this screening.
Nationwide Availability
We have diagnostic centers conveniently located across the United States, serving all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing services wherever you are located.
Take the Next Step in Your Prenatal Care
Don’t leave your baby’s genetic health to chance. Our comprehensive Cystic Fibrosis screening provides the critical information you need for informed pregnancy decisions. With rapid 7-8 day turnaround and professional genetic counseling support, we’re here to guide you through every step of the process.
Ready to schedule your screening? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and help you understand the benefits of prenatal genetic testing.
Take control of your prenatal health journey with advanced genetic screening from trusted professionals. Your peace of mind is our priority.
