Cystic Fibrosis Mutation Screening CFTR Del 508 G551D R553X G542X
Understanding Cystic Fibrosis Genetic Testing
Cystic Fibrosis Mutation Screening is a sophisticated genetic analysis designed to detect specific mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. This comprehensive screening targets four critical mutations: Del 508, G551D, R553X, and G542X, which are among the most common genetic variations associated with cystic fibrosis. The CFTR gene plays a vital role in regulating the movement of salt and water in and out of cells, and mutations in this gene can lead to the development of cystic fibrosis, a serious inherited disorder affecting multiple organ systems.
What This Test Measures and Detects
This advanced genetic screening utilizes End Point PCR technology to precisely identify specific mutations in the CFTR gene:
- Del 508 Mutation: The most common CFTR mutation worldwide, accounting for approximately 70% of cystic fibrosis cases
- G551D Mutation: A class III mutation affecting channel gating and function
- R553X Mutation: A class I nonsense mutation leading to premature termination of protein synthesis
- G542X Mutation: Another significant class I mutation causing truncated protein production
Who Should Consider This Genetic Screening
This test is recommended for individuals experiencing symptoms or with risk factors including:
- Persistent respiratory symptoms including chronic cough and recurrent lung infections
- Digestive issues such as poor weight gain, fatty stools, or pancreatic insufficiency
- Salty-tasting skin, which is a classic symptom of cystic fibrosis
- Family history of cystic fibrosis or known CFTR mutations
- Couples planning pregnancy, especially when there’s a family history of genetic disorders
- Newborns with positive newborn screening results for cystic fibrosis
- Individuals of European descent, where cystic fibrosis is most prevalent
Key Benefits of Cystic Fibrosis Mutation Screening
Undergoing this comprehensive genetic screening offers numerous advantages:
- Early Detection: Identify genetic mutations before symptoms become severe
- Family Planning: Make informed decisions about family planning and genetic counseling
- Proactive Management: Enable early intervention and personalized treatment strategies
- Peace of Mind: Provide clarity and reduce uncertainty about genetic risks
- Comprehensive Analysis: Screen for multiple high-prevalence mutations in a single test
- Accurate Results: Advanced PCR technology ensures reliable and precise mutation detection
Understanding Your Test Results
Your genetic screening results will provide valuable insights into your CFTR gene status:
- Negative Result: No detected mutations in the screened variants – indicates lower risk but doesn’t completely rule out cystic fibrosis
- Positive for One Mutation: Carrier status – you carry one copy of a CFTR mutation but typically won’t develop cystic fibrosis
- Positive for Two Mutations: High likelihood of cystic fibrosis development – requires comprehensive medical evaluation
- Variant of Uncertain Significance: Rare genetic changes requiring further interpretation by genetic specialists
All results should be discussed with a healthcare provider or genetic counselor for proper interpretation and next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | Cystic Fibrosis Mutation Screening CFTR Del 508 G551D R553X G542X |
| 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 and Requirements
The Cystic Fibrosis Mutation Screening requires a Doctor’s prescription for most cases. However, prescription requirements do not apply for individuals undergoing surgery, pregnancy-related testing, or those planning international travel. Our experienced healthcare team will guide you through the simple blood collection process and ensure proper sample handling for accurate results.
Nationwide Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including 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 Today
Don’t wait to gain valuable insights into your genetic health. Early detection of CFTR mutations can significantly impact your healthcare journey and family planning decisions. Our dedicated team is ready to assist you with scheduling, questions, and comprehensive support throughout the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to book your Cystic Fibrosis Mutation Screening and take the first step toward proactive genetic health management.
