MAP2K1 Gene Cardiofaciocutaneous Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Multisystem Disorders
The MAP2K1 Gene Cardiofaciocutaneous Syndrome Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare developmental disorders. This advanced test specifically targets mutations in the MAP2K1 gene, which plays a critical role in the RAS/MAPK signaling pathway essential for normal cellular growth, differentiation, and development. Cardiofaciocutaneous Syndrome Type 3 is characterized by a distinct triad of cardiac abnormalities, facial dysmorphism, and cutaneous manifestations, making early and accurate diagnosis crucial for optimal patient outcomes.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the MAP2K1 gene to identify:
- Pathogenic variants and mutations in the MAP2K1 gene sequence
- Single nucleotide polymorphisms (SNPs) associated with disease manifestation
- Insertions, deletions, and copy number variations affecting gene function
- Novel genetic alterations that may contribute to syndrome presentation
- Inheritance patterns and familial risk assessment
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with the following clinical features:
- Cardiac Manifestations: Congenital heart defects including pulmonary valve stenosis, atrial septal defects, or hypertrophic cardiomyopathy
- Facial Characteristics: Distinctive facial features such as high forehead, bitemporal narrowing, downslanting palpebral fissures, and low-set ears
- Dermatological Findings: Ichthyosis, keratosis pilaris, eczema, or unusual skin pigmentation patterns
- Growth and Development: Failure to thrive, developmental delay, or intellectual disability
- Family History: Individuals with family members diagnosed with RASopathies or similar genetic syndromes
Key Benefits of MAP2K1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Cardiofaciocutaneous Syndrome Type 3 with high precision
- Personalized Management: Enables tailored medical care based on specific genetic findings
- Family Planning Guidance: Provides crucial information for reproductive decision-making
- Early Intervention: Facilitates timely implementation of appropriate therapies and monitoring
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances scientific understanding of rare genetic disorders
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic MAP2K1 mutation, confirming diagnosis of Cardiofaciocutaneous Syndrome Type 3
- Negative Result: Suggests absence of detectable MAP2K1 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
All results are accompanied by detailed explanations and recommendations for next steps in medical management.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| MAP2K1 Gene Cardiofaciocutaneous Syndrome Type 3 NGS Genetic DNA Test | 500 USD | 700 USD |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. 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 expert team of genetic counselors and medical professionals is ready to guide you through the testing process and provide the answers you need for informed healthcare choices.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Take control of your genetic health with confidence and precision.
