Cystic Fibrosis CFTR Full Gene Sequence Analysis
Comprehensive Genetic Testing for Cystic Fibrosis
Cystic Fibrosis CFTR Full Gene Sequence Analysis represents the most advanced genetic testing available for detecting cystic fibrosis mutations. This comprehensive examination utilizes Next-Generation Sequencing (NGS) technology to analyze the entire CFTR gene, providing unparalleled accuracy in identifying genetic variations that cause cystic fibrosis. Unlike standard screening tests that only check for common mutations, this full gene analysis detects both known and novel mutations across all coding regions and splice sites.
What Does This Test Measure?
The CFTR Full Gene Sequence Analysis examines the complete genetic blueprint of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, which spans approximately 250,000 base pairs on chromosome 7. This comprehensive analysis detects:
- All known CFTR gene mutations including DeltaF508, G551D, and other common variants
- Rare and novel mutations that standard screening panels might miss
- Point mutations, insertions, deletions, and splice site variations
- Complete coding sequence analysis of all 27 exons
- Promoter region and intronic boundary analysis
Who Should Consider This Test?
This comprehensive genetic analysis is recommended for individuals experiencing symptoms suggestive of cystic fibrosis or those with specific risk factors:
- Newborns with positive newborn screening results
- Children and adults with recurrent respiratory infections
- Individuals with chronic digestive issues and pancreatic insufficiency
- People with salty-tasting skin or excessive sweat electrolyte levels
- Couples planning pregnancy, especially with family history of CF
- Prenatal screening for at-risk pregnancies
- Individuals with unexplained infertility or reproductive concerns
- Family members of individuals diagnosed with cystic fibrosis
Clinical Benefits of Comprehensive CFTR Analysis
Choosing the full gene sequence analysis provides significant advantages over standard testing approaches:
- Complete Mutation Detection: Identifies both common and rare mutations that might be missed by targeted panels
- Accurate Diagnosis: Provides definitive genetic confirmation for symptomatic individuals
- Family Planning Guidance: Enables informed reproductive decisions for couples
- Personalized Treatment: Specific mutation information can guide targeted therapies
- Carrier Status Determination: Identifies individuals who carry one copy of a CFTR mutation
- Prenatal Risk Assessment: Provides crucial information during pregnancy planning
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical professionals:
- Positive Result: Indicates the presence of two disease-causing CFTR mutations, confirming cystic fibrosis diagnosis
- Carrier Status: Identifies individuals with one mutation who are carriers but typically unaffected
- Negative Result: No CFTR mutations detected, significantly reducing cystic fibrosis risk
- Variants of Uncertain Significance: Some genetic changes may require additional family studies for interpretation
All results include comprehensive genetic counseling to help you understand the implications for your health and family planning.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | Cystic Fibrosis CFTR Full Gene Sequence Analysis |
| Regular Price | $1000 USD |
| Discount Price | $750 USD |
| Turnaround Time | 4-6 weeks |
| Sample Types | Amniotic fluid, Chorionic villi, Peripheral blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection facilities ensures accessible testing regardless of your location.
Book Your Comprehensive Genetic Analysis Today
Take the first step toward understanding your genetic health and making informed medical decisions. Our experienced genetic counselors are available to answer your questions and guide you through the testing process. Contact us today to schedule your Cystic Fibrosis CFTR Full Gene Sequence Analysis.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team is ready to assist you with scheduling, insurance questions, and any concerns you may have about genetic testing. Don’t wait to get the comprehensive genetic information you need for better health outcomes.
