Noonan RASopathies Panel NGS Genetic DNA Test
Comprehensive Genetic Analysis for RAS Pathway Disorders
The Noonan RASopathies Panel NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with RASopathies – a group of developmental disorders caused by dysregulation in the RAS/MAPK signaling pathway. This sophisticated genetic screening utilizes next-generation sequencing (NGS) technology to provide comprehensive analysis of 22 critical genes that play essential roles in cellular growth, differentiation, and development.
What This Advanced Genetic Test Detects
Our comprehensive panel examines mutations across multiple genes including:
- BRAF, KRAS, NRAS, HRAS – Key regulators of cell proliferation
- PTPN11, SOS1, SOS2 – Critical components of RAS signaling
- RAF1, MAP2K1, MAP2K2 – Essential elements in the MAPK pathway
- NF1, NF2, TSC1, TSC2 – Tumor suppressor genes
- SHOC2, SPRED1, LZTR1 – Additional RASopathy-associated genes
Who Should Consider This Genetic Test?
This comprehensive genetic screening is recommended for individuals presenting with:
Clinical Indications and Symptoms
- Characteristic Facial Features: Hypertelorism, ptosis, low-set ears, webbed neck
- Cardiac Abnormalities: Pulmonary valve stenosis, hypertrophic cardiomyopathy
- Growth Concerns: Short stature, failure to thrive in infancy
- Developmental Delays: Cognitive impairments, learning disabilities
- Skeletal Manifestations: Chest deformities, cubitus valgus
- Family History: Known RASopathies in relatives
Significant Benefits of Genetic Testing
Early Diagnosis and Intervention
Timely identification of RASopathies enables:
- Personalized medical management strategies
- Early intervention for cardiac complications
- Appropriate developmental support services
- Family planning and genetic counseling
- Improved long-term health outcomes
Comprehensive Genetic Insights
Our NGS technology provides:
- High-resolution analysis of multiple genes simultaneously
- Detection of both common and rare mutations
- Accurate variant classification and interpretation
- Clinically actionable results for healthcare providers
Understanding Your Test Results
Result Interpretation Guidance
Your genetic test results will fall into one of these categories:
- Positive Result: Identifies a pathogenic mutation confirming diagnosis, enabling targeted management
- Negative Result: No mutations detected in tested genes, though clinical evaluation remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Important information for family planning considerations
Post-Test Recommendations
Following testing, we recommend:
- Consultation with a genetic counselor for result interpretation
- Coordination with relevant medical specialists (cardiologist, endocrinologist)
- Family member testing when appropriate
- Regular follow-up based on specific genetic findings
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Noonan RASopathies Panel NGS Genetic DNA Test – Discount Price | $500 |
| Noonan RASopathies Panel NGS Genetic DNA Test – Regular Price | $750 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Pediatric Genetics
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your health decisions. Our comprehensive Noonan RASopathies Panel provides the answers you need for informed medical management and family planning. With our discounted pricing and nationwide availability, accessing advanced genetic testing has never been more convenient.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing needs and schedule your appointment. Call or WhatsApp us at +1(267) 388-9828 to book your Noonan RASopathies Panel NGS Genetic DNA Test and take control of your genetic health journey.
Note: Prior to testing, we recommend genetic counseling and providing complete clinical history to ensure optimal test interpretation and personalized care planning.
