MAP2K2 Gene Cardiofaciocutaneous Syndrome Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for CFC Syndrome Type 4
The MAP2K2 Gene Cardiofaciocutaneous Syndrome Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare developmental disorders. This advanced test specifically targets mutations in the MAP2K2 gene, which plays a critical role in the RAS/MAPK signaling pathway essential for normal cellular growth, differentiation, and development. Cardiofaciocutaneous (CFC) syndrome type 4 is a rare genetic condition characterized by distinctive facial features, congenital heart defects, skin abnormalities, and developmental delays.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the MAP2K2 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Missense mutations affecting protein function
- Pathogenic variants associated with CFC syndrome type 4
- Novel mutations in the MAP2K2 gene coding regions
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, bitemporal narrowing, and downslanting palpebral fissures
- Congenital heart defects such as pulmonary valve stenosis or hypertrophic cardiomyopathy
- Skin abnormalities including ichthyosis, keratosis pilaris, or eczema
- Developmental delays and intellectual disability
- Growth retardation and failure to thrive
- Hair abnormalities such as sparse, curly hair
- Family history of CFC syndrome or related RASopathies
Benefits of MAP2K2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out CFC syndrome type 4 with high accuracy
- Personalized Treatment: Enables targeted management strategies for cardiac and developmental issues
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of developmental therapies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic MAP2K2 mutation, confirming CFC syndrome type 4 diagnosis
- Negative Result: Suggests absence of detectable MAP2K2 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry mutations that could be passed to offspring
All results include detailed clinical correlations and recommendations for follow-up care with genetic specialists and cardiologists.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| MAP2K2 Gene Cardiofaciocutaneous Syndrome Type 4 NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Cardiovascular Genetics
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of relevant symptoms and clinical findings
- Informed consent for genetic testing
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of Cardiofaciocutaneous syndrome type 4, don’t wait to get answers. Our comprehensive MAP2K2 genetic test provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward better health understanding.
Call or WhatsApp us at +1(267) 388-9828 to book your MAP2K2 Gene Cardiofaciocutaneous Syndrome Type 4 NGS Genetic DNA Test today!
