Cystic Fibrosis Mutation Detection Test
Comprehensive Genetic Analysis for Cystic Fibrosis
The Cystic Fibrosis Mutation Detection Test represents a breakthrough in genetic diagnostics, offering precise identification of mutations in the CFTR gene that cause cystic fibrosis. This life-changing test provides critical information for patients, families, and healthcare providers, enabling early intervention and personalized treatment strategies.
What Does This Test Measure?
Our advanced molecular diagnostic test specifically targets the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, which plays a crucial role in regulating salt and water movement in various organs. The test detects:
- Over 1,700 known CFTR gene mutations
- Common mutations including ΔF508, G542X, and G551D
- Rare and novel mutations through comprehensive sequencing
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Test?
This genetic screening 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 intestinal blockages
- Salty-tasting skin, a classic indicator of cystic fibrosis
- Newborns with positive CF screening results
- Couples planning pregnancy with family history of cystic fibrosis
- Siblings of individuals diagnosed with CF
- Individuals with unexplained infertility or reproductive concerns
Key Benefits of Cystic Fibrosis Mutation Detection
- Early Intervention: Enables proactive management before severe symptoms develop
- Personalized Treatment: Guides targeted therapies based on specific mutations
- Family Planning: Provides crucial information for reproductive decisions
- Accurate Diagnosis: Confirms or rules out cystic fibrosis with 99% accuracy
- Comprehensive Analysis: Covers both common and rare mutations
- Expert Interpretation: Results reviewed by certified genetic counselors
Understanding Your Test Results
Your genetic test report will provide detailed information about CFTR gene mutations:
- Positive Result: Indicates the presence of one or more CFTR mutations. Two mutations confirm cystic fibrosis diagnosis, while one mutation indicates carrier status.
- Negative Result: No CFTR mutations detected, significantly reducing the likelihood of cystic fibrosis.
- Variant of Unknown Significance: Rare genetic changes requiring further clinical correlation.
All results include comprehensive interpretation by our molecular genetics team, with recommendations for next steps and genetic counseling options.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $300 |
| Regular Price | $450 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about cystic fibrosis risk. Our state-of-the-art molecular diagnostics laboratory provides accurate, reliable genetic testing with comprehensive support from our team of genetic specialists. Early detection can significantly improve quality of life and treatment outcomes.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your Cystic Fibrosis Mutation Detection Test. Our genetic counselors are available to answer your questions and help you understand the testing process.
Test Specifications
- Turnaround Time: Sample collected daily by 11 AM; Report available in 6 weeks
- Sample Type: 4 mL (2 mL minimum) whole blood in 1 Lavender top (EDTA) tube OR 10 mL Amniotic fluid in sterile screw-capped container
- Shipping Instructions: Ship refrigerated. DO NOT FREEZE
- Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
- Testing Methodology: Advanced PCR and Sequencing technologies
- Specialty: Pediatric Genetics, Medical Genetics, Pulmonology
- Department: Molecular Diagnostics
