BRAF Gene Cardiofaciocutaneous Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for CFC Syndrome
The BRAF Gene Cardiofaciocutaneous Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Cardiofaciocutaneous (CFC) syndrome. This rare genetic disorder affects multiple body systems, including the heart, facial features, and skin development. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting BRAF gene mutations, enabling precise diagnosis and personalized treatment planning for affected individuals and their families.
What Does This Test Measure?
This comprehensive genetic test specifically analyzes the BRAF gene using next-generation sequencing technology to identify pathogenic variants responsible for Cardiofaciocutaneous syndrome. The test detects:
- Point mutations in the BRAF gene coding regions
- Small insertions and deletions affecting protein function
- Specific nucleotide changes associated with CFC syndrome
- Genetic variations that disrupt normal cellular signaling pathways
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms or clinical features:
- Characteristic facial features including high forehead, sparse eyebrows, and down-slanting eyes
- Congenital heart defects such as pulmonary valve stenosis or hypertrophic cardiomyopathy
- Skin abnormalities including dry, scaly skin or hyperkeratosis
- Developmental delays and intellectual disability
- Growth retardation and failure to thrive
- Family history of CFC syndrome or related RASopathies
- Unexplained multiple congenital anomalies
Key Benefits of BRAF Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out CFC syndrome with high precision
- Early Intervention: Enables timely medical management and therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of RASopathies and related disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your BRAF gene analysis:
- Positive Result: Indicates the presence of a pathogenic BRAF mutation associated with CFC syndrome. This confirms the diagnosis and enables targeted management strategies.
- Negative Result: Suggests that no disease-causing BRAF mutations were detected. However, clinical correlation with symptoms remains essential.
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown. Additional family studies may be recommended.
- Carrier Status: Provides information about inheritance patterns and recurrence risks for family members.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| BRAF Gene Cardiofaciocutaneous Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| BRAF Gene Cardiofaciocutaneous Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our BRAF Gene Cardiofaciocutaneous Syndrome NGS Genetic DNA Test provides the answers you need for informed medical care and family planning. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. Take control of your genetic health with confidence and precision.
